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Article

Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.

Behavioural brain research - 1 Jun 2011

Filali Mohammed, Dequen Florence, Lalonde Robert, Julien Jean-Pierre

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is the most frequently encountered hereditary disease causing sensorimotor neuropathies and slowly progressive muscle weakness and atrophy. The P22S mutation of the NEFL gene encoding the light polypeptide neurofilament (NFL) is associated with CMT. To understand...

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Identifiers

PMID: 21168446
DOI: 10.1016/j.bbr.2010.12.022

Genes

NEFL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21168446-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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