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Article

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Journal of human genetics - 1 Mar 2021

Naruse Hiroya, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Matsukawa Takashi, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Goto Jun, Toda Tatsushi, Tsuji Shoji

Abstract excerpt

Loss-of-function (LoF) variants in NEK1 have recently been reported to be associated with amyotrophic lateral sclerosis (ALS). In this study, we investigated the association of NEK1 LoF variants with an increased risk of sporadic ALS (SALS) and the clinical characteristics of patients with SALS carrying LoF variants in a Japanese case series. Whole-exome sequencing analysis was performed for a series of 446 SALS...

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PMID: 32920598
DOI: 10.1038/s10038-020-00830-9

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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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