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Article

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.

BMC genomics - 29 Jun 2024

Pottinger Tess D, Motelow Joshua E, Povysil Gundula, Moreno Cristiane A Martins, Ren Zhong, Phatnani Hemali, Aitman Timothy J, Santoyo-Lopez Javier, Mitsumoto Hiroshi, Goldstein David B, Harms Matthew B

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease. As therapies that slow or prevent...

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Identifiers

PMID: 38951798
DOI: 10.1186/s12864-024-10538-1
PMCID: PMC11218304

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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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