(Q36876895)

16 August 2017

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THAP1 mutations and dystonia phenotypes: genotype phenotype correlations (English)

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genetic predisposition to disease

16 August 2017

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23 July 2020

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6 November 2020

apoptosis regulatory proteins

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7 November 2020

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Kailash Phatechand Bhatia

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object named as

Kailash P Bhatia

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16 August 2017

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Patricia Limousin

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Andrew J Lees

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John Hardy

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Maria Stamelou

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Nikolaos Scarmeas

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16 August 2017

Georgios M Hadjigeorgiou

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Georgios M Hadjigeorgiou

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Georgia Xiromerisiou

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Prasad Korlipara

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Henry Houlden

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Eleanna Kara

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Reema Paudel

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language of work or name

English

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publication date

17 August 2012

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16 August 2017

1 September 2012

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1290-1294

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Creative Commons Attribution 2.5 Generic

16 August 2017

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on focus list of Wikimedia project

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ScienceSource

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cites work

Identification and functional analysis of novel THAP1 mutations

1 reference

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DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

An African-American family with dystonia

29 September 2017

1 reference

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29 September 2017

1 reference

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Homozygous THAP1 mutations as cause of early-onset generalized dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

29 September 2017

1 reference

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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Adult-onset leg dystonia due to a missense mutation in THAP1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Novel THAP1 sequence variants in primary dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Truncating mutations in THAP1 define the nuclear localization signal.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

The epidemiology of primary dystonia: current evidence and perspectives

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Mutation screening of the DYT6/THAP1 gene in Italy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Transcriptional dysregulation: a cause of dystonia?

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Mutations in DYT1: extension of the phenotypic and mutational spectrum

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3664430

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.25146

Dopa-responsive dystonia: A clinical and molecular genetic study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.25146

Prevalence of THAP1 sequence variants in German patients with primary dystonia

21 January 2018

1 reference

12 December 2020

A molecular link between dystonia 1 and dystonia 6?

1 reference

12 December 2020

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

1 reference

12 December 2020

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

1 reference

12 December 2020

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China

1 reference

12 December 2020

Inherited myoclonus-dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1002/MDS.25146

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

22903657

1 reference