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

Atypical phenotypes of DYT1 dystonia in three children.

Brain & development - 1 Apr 2013

Yilmaz Unsal, Yüksel Deniz, Atac F Belgin, Yilmaz Deniz, Verdi Hasibe, Senbil Nesrin

Abstract excerpt

UNLABELLED: DYT-1 dystonia is the most common primary dystonia seen in childhood. It is an autosomal dominantly inherited disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. It characteristically starts in a distal limb during late childhood, subsequently spreads to involve o...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Dystonia Musculorum Deformans
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Chaperones

Share to Phenotype

Share to Sequence Deletion

Source

Identifiers

PMID: 22770546
DOI: 10.1016/j.braindev.2012.06.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22770546-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical phenotypes of DYT1 dystonia in three children.PMID 22770546Read ↗

[The varied etiologies of childhood-onset dystonia].Semantic proximity Read ↗

Inherited dystonias: clinical features and molecular pathways.Semantic proximity Read ↗

Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature.Semantic proximity Read ↗

Phenotypic variability of the DYT1 mutation in German dystonia patients.Semantic proximity Read ↗

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

Classification and genetics of dystonia.Semantic proximity Read ↗

Genetics of dystonia: an overview.Semantic proximity Read ↗

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

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

The inherited dystonias.Semantic proximity Read ↗

Phenotypic characterization of DYT13 primary torsion dystonia.Semantic proximity Read ↗

DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West.Semantic proximity Read ↗

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