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

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

American journal of human genetics - 1 Aug 1994

Ranum L P, Chung M Y, Banfi S, Bryer A, Schut L J, Ramesar R, Duvick L A, McCall A, Subramony S H, Goldfarb L

Abstract excerpt

The spinocerebellar ataxias are a group of debilitating neurodegenerative diseases for which a clinical classification system has proved unreliable. We have recently isolated the gene for spinocerebellar ataxia type 1 (SCA1) and have shown that the disease is caused by an expanded, unstable, CAG trinucleotide repeat within an expressed gene. Normal alleles have a size range of 19-36 repeats, while SCA1 alleles...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence

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

Share to DNA Primers

Share to Gene Expression

Share to Molecular Sequence Data

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 8037204
PMCID: PMC1918367

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

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.PMID 8037204Read ↗

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.Semantic proximity Read ↗

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.Semantic proximity Read ↗

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)Semantic proximity Read ↗

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).Semantic proximity Read ↗

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.Semantic proximity Read ↗

Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleitide repeat expansion and instability of the repeat for paternal transmission.Semantic proximity Read ↗

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.Semantic proximity Read ↗

Genetic analysis of age at onset variation in spinocerebellar ataxia type 2Semantic proximity Read ↗

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.Semantic proximity Read ↗

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohortSemantic proximity Read ↗

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.Semantic proximity Read ↗

Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan.Semantic proximity Read ↗

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