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Article

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

1 Feb 2009

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 19182804
DOI: 10.1038/ng.304

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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaPMID 19182804Read ↗

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinSemantic 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 ↗

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

Mutation screening of the DYT6/THAP1 gene in Italy.Semantic proximity Read ↗

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.Semantic proximity Read ↗

Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.Semantic proximity Read ↗

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

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

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

Genetics and treatment of dystonia.Semantic proximity Read ↗

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3Semantic proximity Read ↗

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