Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.
Jinyue LiQing LiuXiaohan SunKang ZhangShuangwu LiuZhili WangXunzhe YangMingsheng LiuLi-Ying CuiXue ZhangPublished in: Journal of neurology (2022)
Our study found that TARDBP mutation was not rare in Chinese fALS patients. Different TARDBP mutations were associated with specific features in phenotypes.