ArticleNeurology. Genetics2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
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7 citing papers in PubMed, 9 citations in OpenAlex.
- Development and Structural Characterization of UTE-156, a Covalent Inhibitor of the VCP/p97 AAA+ ATPase.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.Orphanet journal of rare diseases · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
- Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.Neurology. Genetics · 2024Article
- Mechanism of allosteric inhibition of human p97/VCP ATPase and its disease mutant by triazole inhibitors.Communications chemistry · 2024Article
- An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.American journal of human genetics · 2023Article
- Report on the 6th Ottawa International Conference on Neuromuscular Disease & Biology - September 7-9, 2023, Ottawa, Canada.Journal of neuromuscular diseasesArticle
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Authors and funding
50 authors at 1 institution in 2 countries.
Marianela SchiavaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0002-2709-265X
Chiseko IkenagaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0003-2264-1696
Ana TopfFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Marta Caballero-ÁvilaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0001-9850-8504
Tsui-Fen ChouFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Shan LiFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Feng WangFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Jil DawFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Tanya StojkovicFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0002-4054-2838
Rocio Villar-QuilesFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Ichizo NishinoFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0001-9452-112X
Michio InoueFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0003-2757-3266
Yukako NishimoriFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Yoshihiko SaitoFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Masahisa KatsunoFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0001-9453-9311
Seiya NodaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Chihiro ItoFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Mieko OtsukaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Sruthi NahirFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Georgios ManousakisFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
David WalkFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0001-7941-1993
Colin QuinnFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0003-0618-5854
Lindsay AlfanoFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Zarife SahenkFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Giorgio TascaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0003-0849-9144
Mauro MonforteFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Mario SabatelliFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Giulia BisogniFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Anders OldforsFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Anna RydeliuFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0002-6742-1825
Endre PalFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0001-6525-0754
Carmen ParadasFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Beatriz VelezFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Jan L De BleeckerFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Maria Elena FarugiaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Cheryl LongmanFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Matthew B HarmsFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Stuart RalstonFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0002-2804-7586
Edmar ZanoteliFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Andre Macedo Serafim da SilvaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Javier SotocaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0003-3400-1434
Raul Juntas-MoralesFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Jorge BevilacquaFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0002-0525-9308
Mireya BalartFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Stuart TalbotFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Volker StraubFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.ORCID https://orcid.org/0000-0001-9046-3540
Michela GuglieriFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Chiara Marini-BettoloFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Jordi Diaz-ManeraFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Conrad Chris WeihlFrom the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
Johns Hopkins University · US
Funding
VCP in myopathy and dementiaR01AG031867 · NIA · WASHINGTON UNIVERSITY · PI CONRAD C WEIHL · 2009 to 2026
$9.1MDysregulation of p97/VCP disease mutants in IBM and FTLD-UR01NS102279 · NINDS · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI CHOU, TSUI-FEN · 2018 to 2022
$2.8MClinical and Translational Studies in Muscle DiseaseK24AR073317 · NIAMS · WASHINGTON UNIVERSITY · PI CONRAD C WEIHL · 2018 to 2026
$1.6MNIAMS NIH HHS K24 AR073317NIA NIH HHS R01 AG031867NINDS NIH HHS R01 NS102279
Abstract
Background and Objectives: Pathogenic variants in the valosin-containing protein ( Methods: A 6-item clinical score was developed to evaluate the phenotypic level of evidence to support the pathogenicity of the novel variants. Each item is allocated a value, a score ranging from 0.5 to 5.5 points. A receiver-operating characteristic curve was used to identify a cutoff value of 3 to consider a variant as high likelihood disease associated. The scoring system results were confronted with results of in vitro ATPase activity assays and with in silico analysis. Results: All variants were missense, except for one small deletion-insertion, 18 led to amino acid changes within the N and D1 domains, and 13 increased the enzymatic activity. The clinical score coincided with the functional studies in 17 of 19 variants and with the in silico analysis in 12 of 19. For 12 variants, the 3 predictive tools agreed, and for 7 variants, the predictive tools disagreed. The pooled data supported the pathogenicity of 13 of 19 novel VCP variants identified in the study. Discussion: This study provides data to support pathogenicity of 14 of 19 novel
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