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Article

Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.

Neurobiology of disease - 1 Jan 2006

Garcia Michael L, Singleton Andrew B, Hernandez Dena, Ward Christopher M, Evey Crystal, Sapp Peter A, Hardy John, Brown Robert H, Cleveland Don W

Abstract excerpt

While 1 to 2% of amyotrophic lateral sclerosis (ALS) is caused by mutations in the SOD1 gene, the basis of the remaining instances of inherited disease is unknown. Neuropathology, mouse modeling, and human genetics have implicated neurofilaments in the pathogenesis of motor neuron diseases such as ALS and Charcot-Marie-Tooth disease (CMT). A systematic analysis of the coding region and intron-exon boundaries of...

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Identifiers

PMID: 16084104
DOI: 10.1016/j.nbd.2005.06.016

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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