Observational studyNeurology(R) neuroimmunology & neuroinflammation2022
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Erratum issuedAbstract readMulticenter StudyObservational Study
In one paragraph
Observational study in Neurology(R) neuroimmunology & neuroinflammation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 54 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 1 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Efficacy and safety of anti-CD20 monoclonal antibody therapy for autoimmune nodopathies: a systematic review and meta-analysis.Frontiers in neurologyPooled it
- Follow-Up Studies of Nerve Ultrasound and Motor Conduction in Patients With Autoimmune Nodopathy.Muscle & nerve · 2026Article
- Specific HLA-DRB1 Alleles Associate With Anti-Caspr1 and Anti-CNTN1 Autoantibodies in Autoimmune Nodopathies.Neurology(R) neuroimmunology & neuroinflammation · 2026Article
- Autoimmune nodopathy associated with contactin-2 antibodies manifesting as Guillain-Barré syndrome: a case report.Journal of medical case reports · 2026Article
- Clinical and laboratory features of juvenile-onset anti-NF155 autoimmune nodopathy.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Comprehensive Review of Types, Pathophysiology, and Treatment Approaches.Brain and behavior · 2026Review
- Clinical utility of human leukocyte antigen genotyping and immunoglobulin G4 autoantibody testing in autoimmune neurological diseases: A focused minireview.World journal of biological chemistry · 2026Review
- Prevalence and Patterns of Cranial Nerve Involvement in CIDP, Autoimmune Nodopathy, MMN, and Anti-MAG Neuropathy: A Multicenter Korea/UK Study of 582 Patients.European journal of neurology · 2026Article
- The clinical features of anti-CNTN1 antibodies associated autoimmune nodopathies with nephropathy: a case series.Frontiers in neurology · 2026Article
- Advances in the treatment of autoimmune nodopathy: based on treatment strategies of CIDP.Frontiers in immunology · 2026Review
- Case report: Unilateral optic atrophy and intracranial hypertension in anti-NF155 nodopathy: a case managed with sequential efgartigimod and rituximab.Frontiers in immunology · 2026Article
- Familial Occurrence of Anti-NF155 Autoimmune Nodopathy in Father and Son: Expanding the Spectrum of IgG4-Related Nodopathies.Case reports in neurological medicine · 2026Article
- Neural synaptic vesicle autoimmunity following aerosolized porcine neural tissue exposure: insights into autoimmune inflammatory polyradiculoneuropathy.EBioMedicine · 2025Article
- Clinical, Electrophysiologic, and Pathologic Features of Anti-Contactin-Associated Protein 1 Autoimmune Nodopathy.Neurology · 2025Article
- Global research landscape of autoimmune nodopathy: a 20-year bibliometric analysis (2005-2025).Orphanet journal of rare diseases · 2025Article
- The potential role of IgG subclass in NF155-associated nodopathy for targeting therapy: a pediatric case report highlighting the efficacy of pulsed oral corticosteroids.BMC neurology · 2025Article
- Article
- The changing landscape of primary autoimmune neuropathies.Nature reviews. Neurology · 2025Review
- Rare NF140-Positive Nodopathy Masquerading as Fulminant Guillain-Barré Syndrome: A Diagnostic Challenge.Annals of Indian Academy of Neurology · 2025Article
- Ofatumumab for the Treatment of Anti-Neurofascin 155 Autoimmune Nodopathy: A Case Series.Brain and behavior · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
43 authors.
Lorena Martín-AguilarFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0002-1553-2224
Cinta LleixàFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Elba Pascual-GoñiFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Marta Caballero-ÁvilaFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0001-9850-8504
Laura Martínez-MartínezFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Jordi Díaz-ManeraFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Ricard Rojas-GarcíaFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0003-1411-5573
Elena Cortés-VicenteFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Janina Turon-SansFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Noemi de LunaFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Xavier Suárez-CalvetFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0002-5314-6607
Eduard GallardoFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Yusuf RajaballyFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Sangeeta ScottonFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Bart C JacobsFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0002-8985-2458
Adája BaarsFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0001-7842-0871
Andrea CorteseFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Elisa VegezziFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0001-8776-6831
Romana HöftbergerFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Fritz ZimprichFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0002-6998-5480
Cornelia RoeslerFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Eduardo Nobile-OrazioFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Giuseppe LiberatoreFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0003-2666-1678
Fu Liong HiewFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Alicia Martínez-PiñeiroFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Alejandra CarvajalFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Raquel Piñar-MoralesFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0003-3490-4932
Mercedes Usón-MartínFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Olalla AlbertíFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Maria Ángeles López-PérezFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Fabian MárquezFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Julio Pardo-FernándezFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Laura Muñoz-DelgadoFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.ORCID 0000-0002-8818-1824
Macarena Cabrera-SerranoFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Nicolau OrtizFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Manuel BartoloméFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Özgür DumanFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Vera BrilFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Darwin Segura-ChávezFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Kalliopi PitarokoiliFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Claudia SteenFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Isabel IllaFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Luis QuerolFrom the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany. lquerol@santpau.cat.ORCID 0000-0002-4289-8264
Funding
Medical Research Council MR/T001712/1
Abstract
BACKGROUND AND
objectivesTo study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN).
methodsPatients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, and functional scales (modified Rankin Scale [mRS] and Inflammatory Rasch-built Overall Disability Scale [I-RODS]) were retrospectively collected at baseline and at the follow-up. Autoantibody and neurofilament light (NfL) chain levels were analyzed at baseline and at the follow-up.
resultsForty NF155+ patients with AN were included. Mean age at onset was 42.4 years. Patients presented with a progressive (75%), sensory motor (87.5%), and symmetric distal-predominant weakness in upper (97.2%) and lower extremities (94.5%), with tremor and ataxia (75%). Patients received a median of 3 (2-4) different treatments in 46 months of median follow-up. Response to IV immunoglobulin (86.8%) or steroids (72.2%) was poor in most patients, whereas 77.3% responded to rituximab. HLA-DRB1*15 was detected in 91.3% of patients. IgG4 anti-NF155 antibodies were predominant in all patients; anti-NF155 titers correlated with mRS within the same patient ( DISCUSSION: Anti-NF155 AN presents a distinct clinical profile and good response to rituximab. Autoantibody titers and sNfL are useful to monitor disease status in these patients. The use of untagged-NF155 plasmids minimizes the detection of false anti-NF155+ cases. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that anti-NF155 antibodies associate with a specific phenotype and response to rituximab.
Indexed as
Autoimmune Diseases of the Nervous SystemAdultAgedAutoantibodiesCell Adhesion MoleculesFemaleHumansImmunologic FactorsMaleMiddle AgedNerve Growth FactorsRanvier's NodesRetrospective StudiesRituximabYoung AdultAutoantibodiesCell Adhesion MoleculesImmunologic FactorsNerve Growth FactorsNFASC protein, humanRituximab
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