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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

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Title: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Authors: Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Dohrn MF; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Negri S; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy., Lassuthova P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia., Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy., Al-Ajmi A; Division of Neurology, Department of Medicine, Al-Jahra Hospital, Al-Jahra 00020, Kuwait., Feng C; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA., Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil., Fernandez-Eulate G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France., Haddad S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Laurà M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Vegezzi E; IRCCS Mondino Foundation, Pavia 27100, Italy., Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Sleigh JN; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London WC1E 6BT, UK., Rebelo A; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA., Beijer D; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Raposo J; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA., Saporta M; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA., Lauerova B; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia., Pernice HF; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany., Achenbach P; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Schöne U; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Department of Neurology, Maria Hilf Hospital Mönchengladbach, Mönchengladbach 41063, Germany., Alon T; Department of Neurology, Beilinson Hospital, Rabin Medical Center, Petah Tikva 4941492, Israel., Deschauer M; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany., Cordts I; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany., Obermaier CD; Center for Genomics and Transcriptomics Tübingen and Zentrum für Humangenetik Tübingen, Tübingen 72076, Germany., Winter N; Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen 72076, Germany., Creigh PD; Department of Neurology, University of Rochester, Rochester, NY 14642, USA., Sowden JE; Department of Neurology, University of Rochester, Rochester, NY 14642, USA., Rehbein T; Department of Neurology, University of Rochester, Rochester, NY 14642, USA., Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Bertini A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Saveri P; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Ripellino P; Department of Neurology, Neurocenter of Southern Switzerland EOC, Ospedale Regionale di Lugano, Lugano 6900, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano 6900, Switzerland., Huang J; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA., Nadaj-Pakleza A; Service de neurologie, Centre de référence des maladies neuromusculaires, Hôpitaux Universitaires de Strasbourg, Strasbourg 67091, France., Ross A; Clinical Genetics, NHS Grampian, Aberdeen AB15 6RE, UK., Holt JKL; Department of Neurology, The Walton Centre, Liverpool L9 7LJ, UK., Brennan KM; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Sukenik-Halevy R; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah Tikva 4941492, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel., Bizaoui V; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen 14000, France., Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 1827, Turkey., Battaloglu E; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul 34342, Turkey., Cakar A; Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey., Alrohaif H; Kuwait Medical Genetics Centre, Sabah Hospital, Kuwait City, Kuwait., Hammans S; Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. Southampton, SO16 6YD, UK., Kumar KR; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School, The University of Sydney, Concord, NSW 2006, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; St Vincent's Healthcare Clinical Campus, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord and School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), Istanbul 34010, Turkey., Amado DA; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Hahn K; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany., Valentino P; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro 88100, Italy., Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS) 87050, Italy., Gaetano C; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, Skien 3710, Norway., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France., Peric S; Neurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia., Bolino A; Human Inherited Neuropathies Unit, Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan 20132, Italy.; Vita-Salute San Raffaele University, Milan 20132, Italy., Previtali SC; Neuromuscular Repair Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan 20132, Italy., Yi-Chung L; Department of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan., Başak AN; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, Istanbul 34010, Turkey., Hamed SA; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut 71515, Egypt., Rojas-Garcia R; Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona 08193, Spain.; Center for Networked Biomedical Research into Rare Diseases (CIBERER), Madrid 28029, Spain., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Leuven 3000, Belgium., Marques W; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil., Sevilla T; Neurology Department, La Fe Health Research Institute (IISLAFE), Neuromuscular Research Unit, Valencia 46026, Spain., Schlotter-Weigel B; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, München 80336, Germany., Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy., Zhang R; Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14642, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia., Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Züchner S; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Source: Brain : a journal of neurology [Brain] 2025 Oct 03; Vol. 148 (10), pp. 3737-3747.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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Items – Name: Title
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  Data: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
– Name: Author
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  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Cortese+A%22">Cortese A</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.<br /><searchLink fieldCode="AU" term="%22Dohrn+MF%22">Dohrn MF</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Curro+R%22">Curro R</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.<br /><searchLink fieldCode="AU" term="%22Negri+S%22">Negri S</searchLink>; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy.<br /><searchLink fieldCode="AU" term="%22Lassuthova+P%22">Lassuthova P</searchLink>; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.<br /><searchLink fieldCode="AU" term="%22Pisciotta+C%22">Pisciotta C</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Tozza+S%22">Tozza S</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy.<br /><searchLink fieldCode="AU" term="%22Al-Ajmi+A%22">Al-Ajmi A</searchLink>; Division of Neurology, Department of Medicine, Al-Jahra Hospital, Al-Jahra 00020, Kuwait.<br /><searchLink fieldCode="AU" term="%22Feng+C%22">Feng C</searchLink>; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Tomaselli+PJ%22">Tomaselli PJ</searchLink>; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil.<br /><searchLink fieldCode="AU" term="%22Fernandez-Eulate+G%22">Fernandez-Eulate G</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Haddad+S%22">Haddad S</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Laurà+M%22">Laurà M</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Rossor+AM%22">Rossor AM</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Vegezzi+E%22">Vegezzi E</searchLink>; IRCCS Mondino Foundation, Pavia 27100, Italy.<br /><searchLink fieldCode="AU" term="%22Facchini+S%22">Facchini S</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.<br /><searchLink fieldCode="AU" term="%22Sleigh+JN%22">Sleigh JN</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London WC1E 6BT, UK.<br /><searchLink fieldCode="AU" term="%22Rebelo+A%22">Rebelo A</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Beijer+D%22">Beijer D</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Raposo+J%22">Raposo J</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Saporta+M%22">Saporta M</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Lauerova+B%22">Lauerova B</searchLink>; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.<br /><searchLink fieldCode="AU" term="%22Pernice+HF%22">Pernice HF</searchLink>; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany.<br /><searchLink fieldCode="AU" term="%22Achenbach+P%22">Achenbach P</searchLink>; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Schöne+U%22">Schöne U</searchLink>; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Department of Neurology, Maria Hilf Hospital Mönchengladbach, Mönchengladbach 41063, Germany.<br /><searchLink fieldCode="AU" term="%22Alon+T%22">Alon T</searchLink>; Department of Neurology, Beilinson Hospital, Rabin Medical Center, Petah Tikva 4941492, Israel.<br /><searchLink fieldCode="AU" term="%22Deschauer+M%22">Deschauer M</searchLink>; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Cordts+I%22">Cordts I</searchLink>; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Obermaier+CD%22">Obermaier CD</searchLink>; Center for Genomics and Transcriptomics Tübingen and Zentrum für Humangenetik Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Winter+N%22">Winter N</searchLink>; Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Creigh+PD%22">Creigh PD</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Sowden+JE%22">Sowden JE</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Rehbein+T%22">Rehbein T</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Magri+S%22">Magri S</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+A%22">Bertini A</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Saveri+P%22">Saveri P</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Ripellino+P%22">Ripellino P</searchLink>; Department of Neurology, Neurocenter of Southern Switzerland EOC, Ospedale Regionale di Lugano, Lugano 6900, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano 6900, Switzerland.<br /><searchLink fieldCode="AU" term="%22Huang+J%22">Huang J</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Nadaj-Pakleza+A%22">Nadaj-Pakleza A</searchLink>; Service de neurologie, Centre de référence des maladies neuromusculaires, Hôpitaux Universitaires de Strasbourg, Strasbourg 67091, France.<br /><searchLink fieldCode="AU" term="%22Ross+A%22">Ross A</searchLink>; Clinical Genetics, NHS Grampian, Aberdeen AB15 6RE, UK.<br /><searchLink fieldCode="AU" term="%22Holt+JKL%22">Holt JKL</searchLink>; Department of Neurology, The Walton Centre, Liverpool L9 7LJ, UK.<br /><searchLink fieldCode="AU" term="%22Brennan+KM%22">Brennan KM</searchLink>; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.<br /><searchLink fieldCode="AU" term="%22Sukenik-Halevy+R%22">Sukenik-Halevy R</searchLink>; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah Tikva 4941492, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22Bizaoui+V%22">Bizaoui V</searchLink>; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen 14000, France.<br /><searchLink fieldCode="AU" term="%22Parman+Y%22">Parman Y</searchLink>; Neuromuscular Unit, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 1827, Turkey.<br /><searchLink fieldCode="AU" term="%22Battaloglu+E%22">Battaloglu E</searchLink>; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul 34342, Turkey.<br /><searchLink fieldCode="AU" term="%22Cakar+A%22">Cakar A</searchLink>; Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.<br /><searchLink fieldCode="AU" term="%22Alrohaif+H%22">Alrohaif H</searchLink>; Kuwait Medical Genetics Centre, Sabah Hospital, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Hammans+S%22">Hammans S</searchLink>; Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. Southampton, SO16 6YD, UK.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School, The University of Sydney, Concord, NSW 2006, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; St Vincent's Healthcare Clinical Campus, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia.<br /><searchLink fieldCode="AU" term="%22Kennerson+ML%22">Kennerson ML</searchLink>; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord and School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Kayserili+H%22">Kayserili H</searchLink>; Department of Medical Genetics, Koc University School of Medicine (KUSOM), Istanbul 34010, Turkey.<br /><searchLink fieldCode="AU" term="%22Amado+DA%22">Amado DA</searchLink>; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Hahn+K%22">Hahn K</searchLink>; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany.<br /><searchLink fieldCode="AU" term="%22Valentino+P%22">Valentino P</searchLink>; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro 88100, Italy.<br /><searchLink fieldCode="AU" term="%22Cavalcanti+F%22">Cavalcanti F</searchLink>; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS) 87050, Italy.<br /><searchLink fieldCode="AU" term="%22Gaetano+C%22">Gaetano C</searchLink>; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy.<br /><searchLink fieldCode="AU" term="%22Taroni+F%22">Taroni F</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Braathen+GJ%22">Braathen GJ</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien 3710, Norway.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Peric+S%22">Peric S</searchLink>; Neurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.<br /><searchLink fieldCode="AU" term="%22Bolino+A%22">Bolino A</searchLink>; Human Inherited Neuropathies Unit, Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan 20132, Italy.; Vita-Salute San Raffaele University, Milan 20132, Italy.<br /><searchLink fieldCode="AU" term="%22Previtali+SC%22">Previtali SC</searchLink>; Neuromuscular Repair Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan 20132, Italy.<br /><searchLink fieldCode="AU" term="%22Yi-Chung+L%22">Yi-Chung L</searchLink>; Department of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan.<br /><searchLink fieldCode="AU" term="%22Başak+AN%22">Başak AN</searchLink>; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, Istanbul 34010, Turkey.<br /><searchLink fieldCode="AU" term="%22Hamed+SA%22">Hamed SA</searchLink>; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut 71515, Egypt.<br /><searchLink fieldCode="AU" term="%22Rojas-Garcia+R%22">Rojas-Garcia R</searchLink>; Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona 08193, Spain.; Center for Networked Biomedical Research into Rare Diseases (CIBERER), Madrid 28029, Spain.<br /><searchLink fieldCode="AU" term="%22Claeys+KG%22">Claeys KG</searchLink>; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Leuven 3000, Belgium.<br /><searchLink fieldCode="AU" term="%22Marques+W%22">Marques W</searchLink>; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil.<br /><searchLink fieldCode="AU" term="%22Sevilla+T%22">Sevilla T</searchLink>; Neurology Department, La Fe Health Research Institute (IISLAFE), Neuromuscular Research Unit, Valencia 46026, Spain.<br /><searchLink fieldCode="AU" term="%22Schlotter-Weigel+B%22">Schlotter-Weigel B</searchLink>; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, München 80336, Germany.<br /><searchLink fieldCode="AU" term="%22Manganelli+F%22">Manganelli F</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy.<br /><searchLink fieldCode="AU" term="%22Zhang+R%22">Zhang R</searchLink>; Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Seeman+P%22">Seeman P</searchLink>; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.<br /><searchLink fieldCode="AU" term="%22Pareyson+D%22">Pareyson D</searchLink>; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Shy+ME%22">Shy ME</searchLink>; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Züchner+S%22">Züchner S</searchLink>; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2025 Oct 03; Vol. 148 (10), pp. 3737-3747.
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