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Article

Neuropathy target esterase gene mutations cause motor neuron disease.

American journal of human genetics - 1 Mar 2008

Rainier Shirley, Bui Melanie, Mark Erin, Thomas Donald, Tokarz Debra, Ming Lei, Delaney Colin, Richardson Rudy J, Albers James W, Matsunami Nori, Stevens Jeff, Coon Hilary, Leppert Mark, Fink John K

Abstract excerpt

The possibility that organophosphorus (OP) compounds contribute to motor neuron disease (MND) is supported by association of paraoxonase 1 polymorphisms with amyotrophic lateral sclerosis (ALS) and the occurrence of MND in OP compound-induced delayed neuropathy (OPIDN), in which neuropathy target esterase (NTE) is inhibited by organophosphorylation. We evaluated a consanguineous kindred and a genetically...

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Identifiers

PMID: 18313024
DOI: 10.1016/j.ajhg.2007.12.018
PMCID: PMC2427280

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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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