RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

David Pellerin,Felix Heindl,Andreas Traschütz,Dan Rujescu,Annette M. Hartmann,Bernard Brais,Henry Houlden,Claudia Dufke,Olaf Riess,Tobias Haack,Michael Strupp,Matthis Synofzik

Journal of Neurology（2024）

引用 0|浏览0

暂无评分

摘要

The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50

查看译文

关键词

FGF14,SCA27B,GAA-FGF14 ataxia,CANVAS,Cerebellar ataxia,Bilateral vestibulopathy

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要