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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M E; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu; Weiss, Michael D; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M; Zuchner, Stephan; Shy, Michael E; Scherer, Steven S; Reilly, Mary M.
Affiliation
  • 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.
  • Lewis RA; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Day J; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Burns J; Department of Neurology, Stanford University, Stanford, CA 94304, USA.
  • Finkel RS; 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.
  • Saporta MA; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA.
  • Ramchandren S; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Weiss MD; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.
  • Acsadi G; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA.
  • Fridman V; Department of Neurology, University of Washington, Seattle, WA, 98195USA.
  • Muntoni F; Connecticut Children's Medical Center, Hartford, CT 06106, USA.
  • Poh R; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.
  • Polke JM; 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.
  • Zuchner S; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
  • Shy ME; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
  • Scherer SS; 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.
  • Reilly MM; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
Brain ; 146(10): 4336-4349, 2023 10 03.
Article in En | MEDLINE | ID: mdl-37284795
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Clinical_trials Limits: Female / Humans / Male Language: En Journal: Brain Year: 2023 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Clinical_trials Limits: Female / Humans / Male Language: En Journal: Brain Year: 2023 Type: Article Affiliation country: United kingdom