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

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Nov 2005

Martins Sandra, Seixas Ana I, Magalhães Paula, Coutinho Paula, Sequeiros Jorge, Silveira Isabel

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8) is an autosomal dominant late-onset neurodegenerative disorder, belonging to the group of diseases caused by trinucleotide repeat expansions. SCA8 remains one of the most intriguing SCAs, regarding the reduced disease penetrance, and the high instability and poorly understood functional meaning of the (CTA)(n)(CTG)(n) expansion. We performed haplotype and sequencing analysis...

Read the complete abstract on PubMed

Topics

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

Share to Genomic Instability
Share to Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nerve Tissue Proteins

Share to Portugal

Share to RNA, Long Noncoding

Share to RNA, Untranslated

Share to Trinucleotide Repeat Expansion

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 16184604
DOI: 10.1002/ajmg.b.30235

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles.PMID 16184604Read ↗

SCA8 in the Spanish population including one homozygous patient.Semantic proximity Read ↗

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.Semantic proximity Read ↗

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.Semantic proximity Read ↗

Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.Semantic proximity Read ↗

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.Semantic proximity Read ↗

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.Semantic proximity Read ↗

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansionSemantic proximity Read ↗

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).Semantic proximity Read ↗

Do CTG expansions at the SCA8 locus cause ataxia?Semantic proximity Read ↗

Dynamics of CAG repeat loci revealed by the analysis of their variability.Semantic proximity Read ↗

Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.Semantic proximity Read ↗

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.Semantic proximity Read ↗

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