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Article

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Neurobiology of aging - 1 Oct 2017

Pang Shirley Yin-Yu, Hsu Jacob Shujui, Teo Kay-Cheong, Li Yan, Kung Michelle H W, Cheah Kathryn S E, Chan Danny, Cheung Kenneth M C, Li Miaoxin, Sham Pak-Chung, Ho Shu-Leong

Abstract excerpt

Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1...

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Identifiers

PMID: 28709720
DOI: 10.1016/j.neurobiolaging.2017.06.007

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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