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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

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Title: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Authors: Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Laura 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., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Lloyd TE; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD 21205, USA., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, UK., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14618, USA., Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA., Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA., Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Day J; Department of Neurology, Stanford University, Stanford, CA 94304, USA., Burns J; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, 2145Australia., Finkel RS; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ramchandren S; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA., Weiss MD; Department of Neurology, University of Washington, Seattle, WA, 98195USA., Acsadi G; Connecticut Children's Medical Center, Hartford, CT 06106, USA., Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA., Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London, WC1N 1EH, UK., Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Corporate Authors: Inherited Neuropathies Consortium—Rare Disease Clinical Research Network
Source: Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4336-4349.
Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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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  Data: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
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  Data: <searchLink fieldCode="AU" term="%22Record+CJ%22">Record CJ</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Skorupinska+M%22">Skorupinska M</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Laura+M%22">Laura 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="%22Pareyson+D%22">Pareyson D</searchLink>; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pisciotta+C%22">Pisciotta C</searchLink>; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Feely+SME%22">Feely SME</searchLink>; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Lloyd+TE%22">Lloyd TE</searchLink>; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, UK.<br /><searchLink fieldCode="AU" term="%22Sadjadi+R%22">Sadjadi R</searchLink>; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14618, USA.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Walk+D%22">Walk D</searchLink>; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.<br /><searchLink fieldCode="AU" term="%22Yum+SW%22">Yum SW</searchLink>; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Lewis+RA%22">Lewis RA</searchLink>; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.<br /><searchLink fieldCode="AU" term="%22Day+J%22">Day J</searchLink>; Department of Neurology, Stanford University, Stanford, CA 94304, USA.<br /><searchLink fieldCode="AU" term="%22Burns+J%22">Burns J</searchLink>; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, 2145Australia.<br /><searchLink fieldCode="AU" term="%22Finkel+RS%22">Finkel RS</searchLink>; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA.<br /><searchLink fieldCode="AU" term="%22Saporta+MA%22">Saporta MA</searchLink>; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Ramchandren+S%22">Ramchandren S</searchLink>; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA.<br /><searchLink fieldCode="AU" term="%22Weiss+MD%22">Weiss MD</searchLink>; Department of Neurology, University of Washington, Seattle, WA, 98195USA.<br /><searchLink fieldCode="AU" term="%22Acsadi+G%22">Acsadi G</searchLink>; Connecticut Children's Medical Center, Hartford, CT 06106, USA.<br /><searchLink fieldCode="AU" term="%22Fridman+V%22">Fridman V</searchLink>; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.<br /><searchLink fieldCode="AU" term="%22Muntoni+F%22">Muntoni F</searchLink>; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London, WC1N 1EH, UK.<br /><searchLink fieldCode="AU" term="%22Poh+R%22">Poh R</searchLink>; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Polke+JM%22">Polke JM</searchLink>; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Shy+ME%22">Shy ME</searchLink>; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, 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="%22Reilly+MM%22">Reilly MM</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
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