69 authors.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-2168-1119 Véronique BolducNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Fady GuirguisNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Ying HuNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Rotem OrbachNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Riley M McCartyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Apurva SarathyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Gina NoratoClinical Trials Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Beryl B CummingsProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Monkol LekProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Anna SarkozyDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.
Russell J ButterfieldDepartments of Neurology and Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany.ORCID 0000-0003-1618-7386 Andrés NascimentoNeuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII, Barcelona 08950, Spain.
Daniel Natera-de BenitoNeuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII, Barcelona 08950, Spain.
Susana Quijano-RoyGarches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches 92380, France.
Tanya StojkovicCentre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris 75013, France.
Luciano MerliniDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.
Giacomo ComiNeurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20133, Italy.
Monique RyanDepartment of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
Denise McDonaldDepartment of Neurodisability, Children's Health Ireland at Tallaght, Dublin D24 TN3C, Ireland.
Pinki MunotDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.
Grace YoonDepartment of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
Edward LeungDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.
Erika FinangerDepartment of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA.
Meganne E LeachNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
James CollinsDivisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Cuixia TianDivisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Payam MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Sarah B NeuhausNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Dimah SaadeNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Benjamin T CocanougherDivision of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.
Mary-Lynn ChuDepartment of Neurology, New York University School of Medicine, New York, NY 10016, USA.
Mena ScavinaDivision of Neurology, Nemours Children's Hospital Delaware, Wilmington, DE 19803, USA.
Carla GrosmannDepartment of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA 92123, USA.
Randal RichardsonDepartment of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.
Brian D KossakDepartment of Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.
Sidney M GospeDepartment of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA.ORCID 0000-0002-0099-109X Vikram BhiseDepartments of Pediatrics and Neurology, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA.
Gita TaurinaChildren's Clinical University Hospital, Medical Genetics and Prenatal Diagnostic Clinic, Riga 1004, Latvia.
Baiba LaceRiga East Clinical University, Institute of Clinical and Preventive Medicine of the University of Latvia, Riga 1586, Latvia.
Monica TroncosoPediatric Neuropsychiatry Service, Hospital Clínico San Borja Arriarán, Pediatric Department, Universidad de Chile, Santiago 1234, Chile.
Mordechai ShohatThe Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel.
Adel ShalataThe Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel.
Sophelia H S ChanDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Manu JokelaClinical Neurosciences, University of Turku, Turku, Finland and Neurocenter, Turku University Hospital, Turku 20520, Finland.
Johanna PalmioNeuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland.
Göknur HaliloğluDivision of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey.
Cristina JouPathology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona 08950, Spain.
Corine GartiouxINSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.
Herimela Solomon-DegefaCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.
Carolin D FreiburgCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.
Alvise SchiavinatoCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.
Haiyan ZhouNational Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK.
Sara AgutiNeurodegenerative Disease Department, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Yoram NevoInstitute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.ORCID 0000-0001-9452-112X Cecilia Jimenez-MallebreraLaboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.
Shireen R LamandéDepartment of Paediatrics, University of Melbourne, The Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Valérie AllamandINSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.
Francesca GualandiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.
Daniel G MacArthurProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-5771-2290 Steve D WiltonCentre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Raimund WagenerCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.
Enrico BertiniResearch Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.ORCID 0000-0001-9276-4590 Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.