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Article

Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).

European journal of human genetics : EJHG - 1 Mar 2004

Skvortsova Veronika, Shadrina Marya, Slominsky Petr, Levitsky Gleb, Kondratieva Ekaterina, Zherebtsova Anna, Levitskaya Nina, Alekhin Alexander, Serdyuk Anna, Limborska Svetlana

Abstract excerpt

Motor neuron disease (MND) results in the selective degeneration of motor neurons in the cerebral cortex, brain stem and spinal cord. The most common form of MND is amyotrophic lateral sclerosis (ALS). MND is complex and many genetic systems may be involved in the pathogenesis of this disease. Pathological and animal studies implicate neurofilament involvement in MND. The heavy subunit (NEFH) tail domain contains...

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Identifiers

PMID: 14722583
DOI: 10.1038/sj.ejhg.5201144

Genes

NEFH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).PMID 14722583Read ↗

[Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development].Semantic proximity Read ↗

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.Semantic proximity Read ↗

Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.Semantic proximity Read ↗

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.Semantic proximity Read ↗

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onsetSemantic proximity Read ↗

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosisSemantic proximity Read ↗

Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosisSemantic proximity Read ↗

Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis.Semantic proximity Read ↗

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