Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis

1 Mar 1996

Abstract excerpt

We examined the neurofilament heavy subunit (NEFH) as a candidate gene for familial amyotrophic lateral sclerosis. We screened the KSP repeat region of the NEFH gene in 117 unrelated individuals who inherited familial amyotrophic lateral sclerosis as an autosomal trait but who do not have the mutation in the SOD1 locus, and we found no variants in any individual. We conclude that the motor neuron degeneration...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis Research
Share to Neurogenetic and Muscular Disorders Research
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8618684
DOI: 10.1212/wnl.46.3.789

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosisPMID 8618684Read ↗

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

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)Semantic proximity Read ↗

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

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.Semantic proximity Read ↗

Familial amyotrophic lateral sclerosisSemantic proximity Read ↗

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

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.Semantic proximity Read ↗

Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.