Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions

OBJECTIVE: Elucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI). METHODS: A worldwide large sample of FFI patients from our case series and literature review diagnosed by genetic testing...

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Detalles Bibliográficos
Autores principales: Zhang, Jing, Chu, Min, Tian, ZiChen, Xie, KeXin, Cui, Yue, Liu, Li, Meng, JiaLi, Yan, HaiHan, Ji, Yang-Mingyue, Jiang, Zhuyi, Xia, Tian-Xinyu, Wang, Dongxin, Wang, Xin, Zhao, Ye, Ye, Hong, Li, Junjie, Wang, Lin, Wu, Liyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurodegeneration
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862016/
https://www.ncbi.nlm.nih.gov/pubmed/34667102
http://dx.doi.org/10.1136/jnnp-2021-327247

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