Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.-论文-万方医学网

第一作者： Oranee,Sanmaneechai

第一单位： 1 Department of Neurology, University of Iowa Hospitals and Clinics, Iowa, IA, USA 2 Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand oranee141@gmail.com.

作者： Oranee,Sanmaneechai ^[1] ; Shawna,Feely ^[2] ; Steven S,Scherer ^[3] ; David N,Herrmann ^[4] ; Joshua,Burns ^[5] ; Francesco,Muntoni ^[6] ; Jun,Li ^[7] ; Carly E,Siskind ^[8] ; John W,Day ^[8] ; Matilde,Laura ^[9] ; Charlotte J,Sumner ^[10] ; Thomas E,Lloyd ^[10] ; Sindhu,Ramchandren ^[11] ; Rosemary R,Shy ^[2] ; Tiffany,Grider ^[2] ; Chelsea,Bacon ^[2] ; Richard S,Finkel ^[12] ; Sabrina W,Yum ^[13] ; Isabella,Moroni ^[14] ; Giuseppe,Piscosquito ^[15] ; Davide,Pareyson ^[15] ; Mary M,Reilly ^[9] ; Michael E,Shy ^[2] ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC)

作者单位： 1 Department of Neurology, University of Iowa Hospitals and Clinics, Iowa, IA, USA 2 Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand oranee141@gmail.com. ^[1] 1 Department of Neurology, University of Iowa Hospitals and Clinics, Iowa, IA, USA. ^[2] 3 The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. ^[3] 4 Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA. ^[4] 5 Arthritis and Musculoskeletal Research Group, University of Sydney / Paediatric Gait Analysis Service of NSW, Children's Hospital at Westmead, Sydney / Neuromuscular Research Group, Murdoch Childrens Research Institute, Melbourne, Australia. ^[5] 6 University College London Institute of Child Health and Great Ormond Street Hospital, London, UK. ^[6] 7 Department of Neurology, Vanderbilt University, Nashville, TN, USA. ^[7] 8 Department of Neurology, Stanford University, Stanford, CA, USA. ^[8] 9 MRC Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, UK. ^[9] 10 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[10] 11 Department of Neurology, University of Michigan, Ann Arbor, MI, USA. ^[11] 12 Nemours Children's Hospital, Orlando, FL, USA. ^[12] 3 The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA 13 Neuromuscular Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[13] 14 Departments of Child Neurology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. ^[14] 15 Departments of Clinical Neurosciences, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. ^[15]

医学主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);老年人(Aged);老年人, 80以上(Aged, 80 and over);夏科-马里-图斯病(Charcot-Marie-Tooth Disease);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);横断面研究(Cross-Sectional Studies);脱髓鞘疾病(Demyelinating Diseases);女(雌)性(Female);基因型(Genotype);听觉丧失(Hearing Loss);人类(Humans);男(雄)性(Male);中年人(Middle Aged);行走困难(Mobility Limitation);髓磷脂P0蛋白质(Myelin P0 Protein);神经传导(Neural Conduction);表型(Phenotype);脊柱侧凸(Scoliosis);青年人(Young Adult)

DOI 10.1093/brain/awv241

PMID 26310628

发布时间 2025-05-29

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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Brain

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Brain

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