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Article

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

Neurobiology of aging - 1 Jan 2018

Nguyen Hung Phuoc, Van Mossevelde Sara, Dillen Lubina, De Bleecker Jan L, Moisse Matthieu, Van Damme Philip, Van Broeckhoven Christine, van der Zee Julie

Abstract excerpt

We evaluated the genetic impact of the amyotrophic lateral sclerosis (ALS) risk gene never in mitosis gene a-related kinase 1 (NEK1) in a Belgian cohort of 278 patients with ALS (n = 245) or ALS with frontotemporal dementia (ALS-FTD, n = 33) and 609 control individuals. We identified 2 ALS patients carrying a loss-of-function (LOF) mutation, p.Leu854Tyrfs*2 and p.Tyr871Valfs*17, that was absent in the control...

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Source

Identifiers

PMID: 28935222
DOI: 10.1016/j.neurobiolaging.2017.08.021

Genes

NEK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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