Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of new patients with NEFL-related CMT, identified from those attending clinics at the particip...

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Опубликовано в: :J Neurol Neurosurg Psychiatry
Главные авторы: Horga, Alejandro, Laurà, Matilde, Jaunmuktane, Zane, Jerath, Nivedita U, González, Michael A, Polke, James, Poh, Roy, Blake, Julian C, Liu, Yo-Tsen, Wiethoff, Sarah, Bettencourt, Conceição, Hanna, Michael G, Houlden, Henry, Brandner, Sebastian, Züchner, Stephan, Shy, Michael E, Reilly, Mary M
Формат: Artigo
Язык:Inglês
Опубликовано: 2017
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580821/
https://ncbi.nlm.nih.gov/pubmed/28501821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2016-315077
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