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Article

Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis.

Cellular and molecular life sciences : CMLS - 27 Jul 2024

Guarnaccia Maria, Morello Giovanna, La Cognata Valentina, La Bella Vincenzo, Conforti Francesca Luisa, Cavallaro Sebastiano

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is an age-related neurodegenerative disease characterized by selective loss of motor neurons in the brainstem and spinal cord. Several genetic factors have been associated to ALS, ranging from causal genes and potential risk factors to disease modifiers. The search for pathogenic variants in these genes has mostly focused on single nucleotide variants (SNVs) while relatively...

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Identifiers

PMID: 39066921
DOI: 10.1007/s00018-024-05335-8
PMCID: PMC11335238

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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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