Discover Community Create You

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

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

Nature - 4 Mar 1993

Rosen D R, Siddique T, Patterson D, Figlewicz D A, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan J P, Deng H X

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord. Its cause is unknown and it is uniformly fatal, typically within five years. About 10% of cases are inherited as an autosomal dominant trait, with high penetrance after the sixth decade. In most instances, sporadic and autosomal dominant familial ALS (FALS) are clinically similar. We have...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8446170
DOI: 10.1038/362059a0

Genes

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.PMID 8446170Read ↗

Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.Semantic proximity Read ↗

Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis.Semantic proximity Read ↗

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.Semantic proximity Read ↗

Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.Semantic proximity Read ↗

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.Semantic proximity Read ↗

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses.Semantic proximity Read ↗

Analysis of SOD1 variants in Chinese patients with familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputesSemantic proximity Read ↗

Pathogenic mechanisms in familial amyotrophic lateral sclerosis due to mutation of Cu, Zn superoxide dismutase.Semantic proximity Read ↗

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene.Semantic proximity Read ↗

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