Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion.
作者信息
Kermorvant Hugo, Debs Rabab, Maisonobe Thierry, Huin Vincent, Stojkovic Tanya, Lenglet Timothée
机构信息
Sorbonne Université, AP-HP, Hôpital Pitié-Salpêtrière Hospital, Department of Neurology, Paris ALS Center, 75013 Paris, France.
Sorbonne Université, AP-HP, Hôpital Pitié-Salpêtrière Hospital, Department of Neurophysiology, 75013 Paris, France.
出版信息
Clin Neurophysiol. 2022 Feb;134:34-36. doi: 10.1016/j.clinph.2021.11.005. Epub 2021 Dec 3.
PMID:34968871
Abstract
摘要
Zotero 插件