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Article

DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2011

Jech Robert, Bareš Martin, Křepelová Anna, Urgošík Dušan, Havránková Petra, Růžička Evžen

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Share to Apoptosis Regulatory Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21425341
DOI: 10.1002/mds.23599

Genes

THAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.PMID 21425341Read ↗

A Woman With a Novel Mutation of THAP1 With a Prominent Response to Deep Brain Stimulation of the Globus Pallidus Internus.Semantic proximity Read ↗

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.Semantic proximity Read ↗

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.Semantic proximity Read ↗

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

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaSemantic proximity Read ↗

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

Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.Semantic proximity Read ↗

Identification and functional analysis of novel THAP1 mutations.Semantic proximity Read ↗

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

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.Semantic proximity Read ↗

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

Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child.Semantic proximity Read ↗

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