Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
作者信息
Pellerin David, Iruzubieta Pablo, Tekgül Şeyma, Danzi Matt C, Ashton Catherine, Dicaire Marie-Josée, Wandzel Marion, Roth Virginie, Lamont Phillipa J, Bonnet Céline, Renaud Mathilde, Synofzik Matthis, Zuchner Stephan, Brais Bernard, Başak Nazlı A, Houlden Henry
机构信息
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
出版信息
Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552.
PMID:37565404
Abstract
摘要
Zotero 插件