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

Clinical characteristics of SOD1 gene mutations in UK families with ALS.

Journal of the neurological sciences - 31 Oct 1999

Orrell R W, Habgood J J, Malaspina A, Mitchell J, Greenwood J, Lane R J, deBelleroche J S

Abstract excerpt

Five to ten percent of patients with ALS have a family history of the disease, inheritance is usually autosomal dominant. Mutations of the SOD1 gene were first identified in a proportion of families with ALS by Rosen et al. The SOD1 gene encodes the enzyme copper zinc superoxide dismutase. Patients were studied from throughout the UK, where more than one individual in the family had ALS. Clinical history and...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Aged
Share to Amyotrophic Lateral Sclerosis

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

Share to Genetic Markers

Share to Mutation

Share to Superoxide Dismutase

Share to Superoxide Dismutase-1

Share to United Kingdom

Source

Identifiers

PMID: 10540008
DOI: 10.1016/s0022-510x(99)00216-6

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

Clinical characteristics of SOD1 gene mutations in UK families with ALS.PMID 10540008Read ↗

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.Semantic proximity Read ↗

High Prevalence of <i>SOD1</i> Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALSSemantic proximity Read ↗

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric studySemantic proximity Read ↗

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in 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 ↗

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.Semantic proximity Read ↗

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?Semantic proximity Read ↗

Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.Semantic proximity Read ↗

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.Semantic proximity Read ↗

A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

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