Article
Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.
Journal of neurology - 1 Aug 2022
Li Jinyue, Liu Qing, Sun Xiaohan, Zhang Kang, Liu Shuangwu, Wang Zhili, Yang Xunzhe, Liu Mingsheng, Cui Liying, Zhang Xue
Abstract excerpt
BACKGROUND: This study aims to determine the genetic and clinical features of TARDBP-mutated patients in our cohort of Chinese patients with amyotrophic lateral sclerosis (ALS) combined with data in the literature. METHODS: We performed TARDBP mutation screening in 1258 Chinese ALS patients, including 1204 sporadic ALS (sALS) and 54 familial ALS (fALS) patients. A systematic literature review was conducted by...
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