Article
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.
European journal of neurology - 1 Oct 2023
Zhao Bi, Jiang Qirui, Lin Junyu, Wei Qianqian, Li Chunyu, Hou Yanbing, Cao Bei, Zhang Lingyu, Ou Ruwei, Liu Kuncheng, Yang Tianmi, Xiao Yi, Shang Huifang
Abstract excerpt
BACKGROUND AND PURPOSE: Haploinsufficiency of TANK-binding kinase 1 (TBK1) loss-of-function (LoF) variants has been shown to be pathogenic in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the genetic spectrum of TBK1 and clinical features of ALS patients with TBK1 variants remain largely unknown in Asians. METHODS: Genetic analysis was performed on 2011 Chinese ALS patients....
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