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Genetic and clinical characteristics of ALS patients with NEK1 gene variants.

Neurobiology of aging - 1 Mar 2023

Jiang Qirui, Lin Junyu, Wei Qianqian, Li Chunyu, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Liu Kuncheng, Yang Tianmi, Xiao Yi, Hadano Shinji, Shang Huifang

Abstract excerpt

NIMA-related kinase 1(NEK1) gene was related to amyotrophic lateral sclerosis (ALS). However, genetic spectrum and clinical characteristics of ALS patients with NEK1 variants was largely unknown. We conducted genetic analysis on 1587 Chinese ALS patients and used software to predict the pathogenicity of NEK1 missense variant. We searched the literatures in PubMed, Embase, and Web of Science. In our ALS cohort, 42...

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Identifiers

PMID: 36443167
DOI: 10.1016/j.neurobiolaging.2022.11.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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