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

High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.

Scientific reports - 17 Jun 2020

Sundblom Jimmy, Niemelä Valter, Ghazarian Maria, Strand Ann-Sofi, Bergdahl Ingvar A, Jansson Jan-Håkan, Söderberg Stefan, Stattin Eva-Lena

Abstract excerpt

Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin (HTT) gene cause Huntington's disease (HD). The frequency of intermediate alleles (IA) with a length of 27-35 in the general population is not fully known, but studied in specific materials connected to the incidence of HD. The Swedish Huntingtin Alleles and Phenotype (SHAPE) study aims to assess the frequency of trinucleotide repeat...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Gene Frequency

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

Share to Huntingtin Protein

Share to Huntington Disease

Share to Phenotype

Share to Sweden

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 32555394
DOI: 10.1038/s41598-020-66643-0
PMCID: PMC7299994

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

High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.PMID 32555394Read ↗

Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?Semantic proximity Read ↗

REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review.Semantic proximity Read ↗

[The role of alleles with an intermediate number of trinucleotide repeats in Parkinson's disease and other neurodegenerative disorders].Semantic proximity Read ↗

Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene.Semantic proximity Read ↗

The Huntington’s Disease Gene in an Italian Cohort of Patients With Bipolar DisorderSemantic proximity Read ↗

Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test resultsSemantic proximity Read ↗

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s DiseaseSemantic proximity Read ↗

The Huntington's Disease Gene in an Italian Cohort of Patients with Bipolar Disorder.Semantic proximity Read ↗

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.Semantic proximity Read ↗

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.Semantic proximity Read ↗

Clinical manifestations of intermediate allele carriers in Huntington disease.Semantic proximity Read ↗

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.Semantic proximity Read ↗

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