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

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.

Experimental eye research - 1 Jun 2002

Aleman Tomas S, Cideciyan Artur V, Volpe Nicholas J, Stevanin Giovanni, Brice Alexis, Jacobson Samuel G

Abstract excerpt

Autosomal dominant spinocerebellar ataxia 7 is associated with retinal degeneration. SCA7, the causative gene, encodes ataxin-7, a ubiquitous 892 amino acid protein of variable sub-cellular localization, and the disease is due to expansion of an unstable CAG repeat in the coding region of the gene. Recent increases in understanding of the mechanisms ofSCA7 -related retinopathy from in vitro and murine model...

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
Share to Retinal Cone Photoreceptor Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinal Degeneration

Share to Retinal Rod Photoreceptor Cells

Share to Spinocerebellar Ataxias

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 12126946
DOI: 10.1006/exer.2002.1169

Genes

CRX

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

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.PMID 12126946Read ↗

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

Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).Semantic proximity Read ↗

A Proposal for Classification of Retinal Degeneration in Spinocerebellar Ataxia Type 7.Semantic proximity Read ↗

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A ReviewSemantic proximity Read ↗

Ophthalmic features of spinocerebellar ataxia type 7.Semantic proximity Read ↗

Cone rod dystrophies.Semantic proximity Read ↗

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.Semantic proximity Read ↗

Progressive retinal degeneration and dysfunction in R6 Huntington's disease miceSemantic proximity Read ↗

Altered retinal structure and function in Spinocerebellar ataxia type 3Semantic proximity Read ↗

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

Spinocerebellar ataxia 7 (SCA7).Semantic proximity Read ↗

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.Semantic proximity Read ↗

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