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Article

Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient.

Revue neurologique - 1 Jan 2000

Grimaldi S, Lagier A, Robert D, Korchia D, Soulayrol S, Azulay J-P

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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: 29129324
DOI: 10.1016/j.neurol.2017.06.013

Genes

THAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient.PMID 29129324Read ↗

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

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

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.Semantic proximity Read ↗

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

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

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.Semantic proximity Read ↗

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

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

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

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

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

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

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