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

Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2000

Abe T, Tsuda T, Yoshida M, Wada Y, Kano T, Itoyama Y, Tamai M

Abstract excerpt

OBJECTIVE: To evaluate the macular function of Japanese patients with a trinucleotide repeat expansion in the spinocerebellar ataxia type 7 (SCA7) gene. METHODS: Ophthalmic findings in patients whose DNA analysis revealed expanded alleles of the trinucleotide repeat in the SCA7 gene were evaluated. RESULTS: Trinucleotide repeat was expanded from 40 to 48 in affected patients (control subjects, 12 repeats)....

Read the complete abstract on PubMed

Topics

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

Share to Ataxin-7
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Macular Degeneration

Share to Spinocerebellar Degenerations

Share to Trinucleotide Repeat Expansion

Share to Visual Acuity

Share to Visual Fields

Source

Identifiers

PMID: 11030825
DOI: 10.1001/archopht.118.10.1415

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families.PMID 11030825Read ↗

Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.Semantic proximity Read ↗

Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene.Semantic proximity Read ↗

Spinocerebellar ataxia 7 (SCA7).Semantic proximity Read ↗

Clinical characterisation and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7Semantic proximity Read ↗

Unusual retinal phenotypes in an SCA7 family.Semantic proximity Read ↗

[Mutation analysis of a Chinese family with spinocerebellar ataxia 7].Semantic proximity Read ↗

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.Semantic proximity Read ↗

Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia.Semantic proximity Read ↗

[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].Semantic proximity Read ↗

[Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families].Semantic proximity Read ↗

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.Semantic proximity Read ↗

Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene.Semantic proximity Read ↗

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