Zobrazeno 1 - 10
of 14 947
pro vyhledávání: '"HLA-DRB1"'
Autor:
Drosu N; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139., Anderson M; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114., Bilodeau PA; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114., Nishiyama S; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114., Mikami T; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114., Bobrowski-Khoury N; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114., Cabot J; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114., Housman D; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139., Levy M; Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Oct 29; Vol. 121 (44), pp. e2416097121. Date of Electronic Publication: 2024 Oct 21.
Autor:
Andrade G; Laboratório de Histocompatibilidade e Criopreservação, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil., Cunha M; Laboratório de Histocompatibilidade e Criopreservação, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil., Vianna R; Omixon Biocomputing Ltd, Budapest, Hungary., Porto LC; Laboratório de Histocompatibilidade e Criopreservação, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil., Secco D; Laboratório de Histocompatibilidade e Criopreservação, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Publikováno v:
HLA [HLA] 2024 Oct; Vol. 104 (4), pp. e15724.
Autor:
Li X; Hainan Women and Children's Medical Center, Haikou, Hainan, China.; NHC Key Laboratory of Tropical Disease Control,School of Tropical Medicine, Hainan Medical University, Haikou, Hainan, China., Zhou Q; Hainan Women and Children's Medical Center, Haikou, Hainan, China., Lu Z; Hainan Women and Children's Medical Center, Haikou, Hainan, China., Huang R; Hainan Women and Children's Medical Center, Haikou, Hainan, China., Lin D; Hainan Women and Children's Medical Center, Haikou, Hainan, China., Xu J; Hainan Women and Children's Medical Center, Haikou, Hainan, China., Yu X; Hainan Women and Children's Medical Center, Haikou, Hainan, China.; Priority Area Chronic Lung Diseases, Research Center Borstel, Borstel, Germany., Li X; NHC Key Laboratory of Tropical Disease Control,School of Tropical Medicine, Hainan Medical University, Haikou, Hainan, China.
Publikováno v:
Journal of medical virology [J Med Virol] 2024 Aug; Vol. 96 (8), pp. e29867.
Autor:
Elsermans V; CHU de Lille, Institut d'Immunologie-HLA, Lille, France., Visentin J; Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.; UMR CNRS 5164 Immunoconcept, Université de Bordeaux, Bordeaux, France., Pajot T; CHU de Lille, Institut d'Immunologie-HLA, Lille, France., Top I; CHU de Lille, Institut d'Immunologie-HLA, Lille, France., Labalette M; CHU de Lille, Institut d'Immunologie-HLA, Lille, France.; Inserm U1286 INFINITE, Université de Lille, Lille, France.
Publikováno v:
HLA [HLA] 2024 Aug; Vol. 104 (2), pp. e15626.
Autor:
Loginova M; Research Laboratory of Applied Immunogenetics, Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute under the Federal Medicine and Biology Agency, Kirov, Russia.; Department of Microbiology, Federal State Budget Educational Institution of Higher Professional Education: Vyatka State University, Kirov, Russia., Smirnova D; Research Laboratory of Applied Immunogenetics, Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute under the Federal Medicine and Biology Agency, Kirov, Russia., Paramonov I; Research Laboratory of Applied Immunogenetics, Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute under the Federal Medicine and Biology Agency, Kirov, Russia.
Publikováno v:
HLA [HLA] 2024 Aug; Vol. 104 (2), pp. e15655.
Autor:
Johansson E; Department of clinical neuroscience, Karolinska Institutet, Stockholm, Sweden., Olsson T; Department of clinical neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden., Strid P; Department of clinical neuroscience, Karolinska Institutet, Stockholm, Sweden., Kockum I; Department of clinical neuroscience, Karolinska Institutet, Stockholm, Sweden., Alfredsson L; Department of clinical neuroscience, Karolinska Institutet, Stockholm, Sweden.; Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.; Center for Occupational and Environmental Medicine, Region Stockholm, Sweden., Hedström AK; Department of clinical neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v:
Sleep [Sleep] 2024 Oct 11; Vol. 47 (10).
Autor:
Guerini FR; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., Bolognesi E; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., Mensi MM; Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.; IRCCS Fondazione Mondino, 27100 Pavia, Italy., Zanette M; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., Agliardi C; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., Zanzottera M; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., Chiappedi M; Child Neurology and Psychiatry Unit, ASST Pavia, 27029 Vigevano, Italy., Annunziata S; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., García-García F; Computational Biomedicine Laboratory, Principe Felipe Research Center (CIPF), C/Eduardo Primo Yúfera 3, 46012 Valencia, Spain., Cavallini A; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy., Clerici M; Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy.; Pathophysiology and Transplantation Department, University of Milan, 20122 Milan, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 12; Vol. 25 (18). Date of Electronic Publication: 2024 Sep 12.
Autor:
Nóvoa-Medina Y; Unidad de Endocrinología Pediátrica, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain. yeraynm@hotmail.com.; Asociación Canaria para la Investigación Pediátrica (ACIP canarias), Las Palmas, Spain. yeraynm@hotmail.com.; Instituto Universitario de Investigaciones Biomédicas y Sanitarias de la Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain. yeraynm@hotmail.com., Marcelino-Rodriguez I; Preventive Medicine and Public Health Area, University of La Laguna, Santa Cruz de Tenerife, Spain.; Institute of Biomedical Technologies, University of La Laguna, Santa Cruz de Tenerife, Spain., Suárez NM; Instituto Universitario de Investigaciones Biomédicas y Sanitarias de la Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Barreiro-Bautista M; Instituto Universitario de Investigaciones Biomédicas y Sanitarias de la Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Rivas-García E; Servicio de Inmunología, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Sánchez-Alonso S; Servicio de Inmunología, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., González-Martínez G; Servicio de Inmunología, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Quinteiro-González S; Unidad de Endocrinología Pediátrica, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Domínguez Á; Unidad de Endocrinología Pediátrica, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Cabrera M; Unidad de Endocrinología Pediátrica, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., López S; Unidad de Endocrinología Pediátrica, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Pavlovic S; Servicio de Pediatría Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Flores C; Institute of Biomedical Technologies, University of La Laguna, Santa Cruz de Tenerife, Spain.; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Facultad de Ciencias de la Salud, Universidad Fernando de Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Wägner AM; Instituto Universitario de Investigaciones Biomédicas y Sanitarias de la Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.; Servicio de Endocrinología y Nutrición, Complejo Hospitalario Universitario Insular Materno Infantil de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Sep 06; Vol. 24 (1), pp. 569. Date of Electronic Publication: 2024 Sep 06.
Autor:
Kikili Cİ; Department of Internal Medicine., Kivanç D; Department of Medical Biology, Istanbul Faculty of Medicine, Istanbul University., Ortaboz D; Department of Adult Hematology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa., Şentürk Çiftçi H; Department of Medical Biology, Istanbul Faculty of Medicine, Istanbul University., Özbalak MM; Department of Adult Hematology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Yenerel MN; Department of Adult Hematology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Nalçaci M; Department of Adult Hematology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Ar MC; Department of Adult Hematology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa., Oğuz FS; Department of Medical Biology, Istanbul Faculty of Medicine, Istanbul University., Beşişik SK; Department of Adult Hematology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Publikováno v:
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2024 Sep 01; Vol. 35 (6), pp. 307-315. Date of Electronic Publication: 2024 Jul 24.
Autor:
Llansó L; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Segarra-Casas A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Domínguez-González C; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Malfatti E; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Kapetanovic S; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Rodríguez-Santiago B; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., de la Calle O; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Blanco R; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Dobrescu A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Nascimento-Osorio A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Paipa A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Hernandez-Lain A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Jou C; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Mariscal A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., González-Mera L; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Arteche A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Lleixà C; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Caballero-Ávila M; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Carbayo Á; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Vesperinas A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Querol L; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Gallardo E; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Olivé M; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain.
Publikováno v:
Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2024 Sep; Vol. 11 (5), pp. e200285. Date of Electronic Publication: 2024 Aug 06.