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

Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study.

Journal of the neurological sciences - 15 May 2008

Suzuki Megumi, Irie Togo, Watanabe Takeshi, Mikami Hirotsugu, Yamazaki Toshihiro, Oyanagi Kiyomitsu, Ono Seiitsu

Abstract excerpt

We describe a 39-year-old Japanese woman with familial amyotrophic lateral sclerosis (FALS) in whom we identified a missense mutation (Gly93-->Ser) in exon 4 of the Cu/Zn superoxidase dismutase-1 (SOD1) gene in which no pathological data have been available. The disease duration was 16 years, and she died of respiratory failure. The initial sign was weakness of the lower limbs. She had no clear upper motor neuron...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Central Nervous System

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

Share to Family Health

Share to SOD1 gene

Share to Glycine

Share to Mutation

Share to Serine

Share to Superoxide Dismutase

Source

Identifiers

PMID: 18191946
DOI: 10.1016/j.jns.2007.11.020

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

Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study.PMID 18191946Read ↗

[Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase].Semantic proximity Read ↗

Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation.Semantic proximity Read ↗

Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease.Semantic proximity Read ↗

[Familial amyotrophic lateral sclerosis (FALS) with a novel SOD1 gene mutation: a clinicopathological study].Semantic proximity Read ↗

[Familial amyotrophic lateral sclerosis and mutations in the Cu/Zn superoxide dismutase gene].Semantic proximity Read ↗

Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions.Semantic proximity Read ↗

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

Familial amyotrophic lateral sclerosis: a SOD1-unrelated Japanese family of bulbar type with Bunina bodies and ubiquitin-positive skein-like inclusions in lower motor neurons.Semantic proximity Read ↗

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy.Semantic proximity Read ↗

Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.Semantic proximity Read ↗

Amyotrophic lateral sclerosis: all roads lead to Rome.Semantic proximity Read ↗

Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations.Semantic proximity Read ↗

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