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

Phenotypic characterization of DYT13 primary torsion dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2004

Bentivoglio Anna Rita, Ialongo Tamara, Contarino M Fiorella, Valente Enza M, Albanese Alberto

Abstract excerpt

We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals...

Read the complete abstract on PubMed

Topics

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

Share to Activities of Daily Living
Share to Disability Evaluation

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

Share to Dystonia Musculorum Deformans

Share to Dystonic Disorders

Share to Histone Acetyltransferases

Share to Neurologic Examination

Share to TATA-Binding Protein Associated Factors

Share to Transcription Factor TFIID

Source

Identifiers

PMID: 14978677
DOI: 10.1002/mds.10634

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

Phenotypic characterization of DYT13 primary torsion dystonia.PMID 14978677Read ↗

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.Semantic proximity Read ↗

Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?Semantic proximity Read ↗

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.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 ↗

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.Semantic proximity Read ↗

The role of DYT1 in primary torsion dystonia in Europe.Semantic proximity Read ↗

Genetic and clinical features of primary torsion dystonia.Semantic proximity Read ↗

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.Semantic proximity Read ↗

Non-DYT1 dystonia in a large Italian family.Semantic proximity Read ↗

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

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.Semantic proximity Read ↗

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

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