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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

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第一作者: Kailee S,Ward
第一单位: Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.
作者单位: Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA. [1] Biomolecular Nuclear Magnetic Resonance Facility, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. [2] Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. [3] Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy. [4] Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. [5] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. [6] Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA. [7] University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145  Australia. [8] Center for Experimental Neurotherapies, St. Jude Children's Research Hospital, Memphis, TN  USA. [9] Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205, USA. [10] Department of Neurology, Stanford University, Stanford, CA 94304, USA. [11] Department of Neurology, Nemours Children's Hospital, Orland, FL 32827, USA. [12] Department of Neurology, University of Rochester, Rochester, NY 14618, USA. [13] Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. [14] Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA. [15] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.;John P. Hussman Institutue for Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. [16] Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA. [17]
DOI 10.1093/brain/awaf219
PMID 40488457
发布时间 2025-07-19
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Brain : a journal of neurology

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