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Article

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

JAMA neurology - 1 Nov 2015

Park Jung E, Vanegas-Arroyave Nora, Hallett Mark, Lungu Codrin

Abstract excerpt

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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: 26415042
DOI: 10.1001/jamaneurol.2015.1954

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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A Woman With a Novel Mutation of THAP1 With a Prominent Response to Deep Brain Stimulation of the Globus Pallidus Internus.PMID 26415042Read ↗

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

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

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

Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders.Semantic proximity Read ↗

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

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation.Semantic proximity Read ↗

Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.Semantic proximity Read ↗

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

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.Semantic proximity Read ↗

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

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

A Rare Mutation in TRRAP Gene and the Expanded New Phenotype.Semantic proximity Read ↗

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