No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.

doi:10.1080/14660820310011737

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

Community

Back to search

Article

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.

Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases - 1 Sept 2003

Ahmad-Annuar Azlina, Shah Paresh, Hafezparast Majid, Hummerich Holger, Witherden Abi S, Morrison Karen E, Shaw Pamela J, Kirby Janine, Warner Thomas T, Crosby Andrew, Proukakis Christos, Wilkinson Philip, Orrell Richard W, Bradley Lloyd, Martin Joanne E, Fisher Elizabeth M C

Abstract excerpt

We have shown in a mouse model of motor neuron disease, the legs-at-odd-angles (Loa) mutant, and that mutations in the cytoplasmic dynein heavy chain gene (Dnchc1) cause motor neuron degeneration. Mice exhibiting the Loa phenotype suffer progressive loss of locomotor function and homozygous animals have neuronal inclusion bodies that are positive for SOD1, CDK5, neurofilament and ubiquitin proteins. As this...

Read the complete abstract on PubMed

Topics

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

Share to Dyneins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exons

Share to Family Health

Share to Genomics

Share to Motor Neuron Disease

Share to Protein Subunits

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to White People

Source

Open in PubMed

Identifiers

PMID: 13129801
DOI: 10.1080/14660820310011737

Genes

CDK5
SOD1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.PMID 13129801Read ↗

No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach.Semantic proximity Read ↗

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Semantic proximity Read ↗

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.Semantic proximity Read ↗

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.Semantic proximity Read ↗

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.Semantic proximity Read ↗

Neurodegenerative mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactions.Semantic proximity Read ↗

Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease.Semantic proximity Read ↗

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.Semantic proximity Read ↗

A dynein mutation attenuates motor neuron degeneration in SOD1(G93A) mice.Semantic proximity Read ↗

CHCHD10 is not a frequent causative gene in Chinese ALS patients.Semantic proximity Read ↗

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominanceSemantic proximity Read ↗

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.Semantic proximity Read ↗

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