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

Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.

Clinical neurology and neurosurgery - 1 Mar 2016

Wang Lei, Duan Chenchi, Gao Yuan, Xu Wei, Ding Jianqing, Liu Victoria T, Wu Yiwen

Abstract excerpt

OBJECTIVE: TOR1A (torsin family 1, member A) and THAP1 (THAP domain containing, apoptosis associated protein 1) are two candidate genes that have been reported to be linked to adult-onset primary dystonia. However, the overall results have been inconsistent, likely because primary dystonia may have subtype-specific genetic risk factors. The aim of our study was to assess the association of TOR1A and THAP1 with...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Apoptosis Regulatory Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to DNA-Binding Proteins

Share to Dystonic Disorders

Share to Gene Frequency

Share to Molecular Chaperones

Share to Nuclear Proteins

Source

Identifiers

PMID: 26803725
DOI: 10.1016/j.clineuro.2016.01.018

Genes

THAP1
MAF

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

Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.PMID 26803725Read ↗

Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population.Semantic proximity Read ↗

Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias.Semantic proximity Read ↗

TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.Semantic proximity Read ↗

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.Semantic proximity Read ↗

New THAP1 mutation and role of putative modifier in TOR1A.Semantic proximity Read ↗

Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia.Semantic proximity Read ↗

Is TOR1A a risk factor in adult-onset primary torsion dystonia?Semantic proximity Read ↗

An African-American family with dystonia.Semantic proximity Read ↗

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.Semantic proximity Read ↗

Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.Semantic proximity Read ↗

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.Semantic proximity Read ↗

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.Semantic proximity Read ↗

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