Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation screening of NEK1 in Chinese ALS patients.

Neurobiology of aging - 1 Nov 2018

Shu Shi, Lei Xingxing, Liu Fang, Cui Bo, Liu Qing, Ding Qingyun, Liu Ming Sheng, Li Xiao Guang, Cui Liying, Zhang Xue

Abstract excerpt

NEK1 was recently identified as an amyotrophic lateral sclerosis (ALS) gene through rare variant burden analysis, and its role in ALS in various populations is still unclear. The aim of this study was to determine the frequency and spectrum of NEK1 mutations in an ALS cohort from mainland China. All exons and their flanking intron regions of NEK1 were screened by direct nucleotide sequencing in 377 unrelated ALS...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to Cohort Studies

Share to DNA Mutational Analysis

Share to Genetic Testing

Share to Young Adult

Source

Identifiers

PMID: 30093141
DOI: 10.1016/j.neurobiolaging.2018.06.022

Genes

NEK1
MAF
SOD1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation screening of NEK1 in Chinese ALS patients.PMID 30093141Read ↗

Genetic and clinical characteristics of ALS patients with NEK1 gene variants.Semantic proximity Read ↗

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.Semantic proximity Read ↗

Hand‐onset weakness is a common feature of ALS patients with a NEK1 loss‐of‐function variantSemantic proximity Read ↗

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.Semantic proximity Read ↗

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

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patientsSemantic proximity Read ↗

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.Semantic proximity Read ↗

NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.Semantic proximity Read ↗

<i>NEK1</i>mutations in familial amyotrophic lateral sclerosisSemantic proximity Read ↗

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis.Semantic proximity Read ↗

Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.