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Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis.

Neurobiology of disease - 1 Dec 2022

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: Variants in the annexin A11 gene (ANXA11) have been reported to be associated with amyotrophic lateral sclerosis (ALS). These variants may be involved in the pathogenesis of ALS by causing defects in intracellular protein trafficking. However, the genetic spectrum and clinical characteristics of ALS patients with ANXA11 variants are largely unknown. METHODS: Genetic analysis was performed on 1587...

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PMID: 36280108
DOI: 10.1016/j.nbd.2022.105907

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