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. |
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| 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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