First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia
首次报道三名患有晚发性小脑共济失调的兄弟姐妹中的两名同时存在FGF14（SCA27B）和RFC1（CANVAS）重复序列扩增。
期刊:Cerebellum
影响因子:2.4
doi:10.1007/s12311-025-01921-z
Tsokkos, Tasos; Christodoulou, Kyproula; Votsi, Christina; Georghiou, Anthi; Christofides, Andrea; Constantinou, Astero; Zamba-Papanicolaou, Eleni
