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Article

Identifying the molecular drivers of ALS-implicated missense mutations.

Journal of medical genetics - 1 May 2023

Portelli Stephanie, Albanaz Amanda, Pires Douglas Eduardo Valente, Ascher David Benjamin

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressively fatal, neurodegenerative disease associated with both motor and non-motor symptoms, including frontotemporal dementia. Approximately 10% of cases are genetically inherited (familial ALS), while the majority are sporadic. Mutations across a wide range of genes have been associated; however, the underlying molecular effects of these mutations and...

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Identifiers

PMID: 36180205
DOI: 10.1136/jmg-2022-108798

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.

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