Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study (Q37017203)

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scientific article published on April 2009

Mutations in <ce:italic>THAP1 (DYT6)</ce:italic> in early-onset dystonia: a genetic screening study

Language	Label	Description	Also known as
English	Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study	scientific article published on April 2009	Mutations in <ce:italic>THAP1 (DYT6)</ce:italic> in early-onset dystonia: a genetic screening study

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

object named as

Gary A Heiman

4

0 references

Rachel Saunders-Pullman

6

object named as

Rachel Saunders-Pullman

1 reference

Europe PubMed Central

17 August 2017

PMC publication ID

Deborah Raymond

2

object named as

Deborah Raymond

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

5

object named as

Laurie J Ozelius

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

1

object named as

Susan B Bressman

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

author name string

Tania Fuchs

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

publication date

1 April 2009

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Lancet Neurology

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

441-446

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Genetics of dystonia: an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Microstructural white matter changes in primary torsion dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

29 September 2017

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

4 September 2018

Regional metabolism in primary torsion dystonia: effects of penetrance and genotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

4 September 2018

Nomenclature for the description of human sequence variations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712754

4 September 2018

Diagnostic criteria for dystonia in DYT1 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/19345147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19345147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

1 reference

https://pubmed.ncbi.nlm.nih.gov/19345147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970081-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1474-4422(09)70081-X

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Semantic Scholar paper ID

772532034ac938abcace2c1ff3d1e4db63bb2e3f

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