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

Is TOR1A a risk factor in adult-onset primary torsion dystonia?

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2013

Groen Justus L, Ritz Katja, Tanck Michael W, van de Warrenburg Bart P, van Hilten Jacobus J, Aramideh Majid, Baas Frank, Tijssen Marina A J

Abstract excerpt

BACKGROUND: Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results. METHODS: The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A...

Read the complete abstract on PubMed

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Topics

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

Share to Aged
Share to Cohort Studies
Share to Dystonia Musculorum Deformans
Share to Gene Frequency
Share to Genetic Association Studies
Share to Haplotypes
Share to Molecular Chaperones
Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 23460578
DOI: 10.1002/mds.25381

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Is TOR1A a risk factor in adult-onset primary torsion dystonia?PMID 23460578Read ↗

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

The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.Semantic proximity Read ↗

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.Semantic proximity Read ↗

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

Age at onset as a factor in determining the phenotype of primary torsion dystonia.Semantic proximity Read ↗

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onsetSemantic proximity Read ↗

Genetics of primary torsion dystonia.Semantic proximity Read ↗

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

Genetics of dystonia: an overview.Semantic proximity Read ↗

Phenotypes and genetic architecture of focal primary torsion dystonia.Semantic proximity Read ↗

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12Semantic proximity Read ↗

Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12.Semantic proximity Read ↗

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