(Q37017203)

17 August 2017

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

1 reference

17 August 2017

Gary A Heiman

4

0 references

Rachel Saunders-Pullman

series ordinal

6

object named as

Rachel Saunders-Pullman

1 reference

17 August 2017

2

Deborah Raymond

1 reference

17 August 2017

5

Laurie J Ozelius

1 reference

17 August 2017

1

Susan B Bressman

1 reference

17 August 2017

Tania Fuchs

3

1 reference

17 August 2017

1 April 2009

1 reference

17 August 2017

1 reference

17 August 2017

8

1 reference

17 August 2017

5

1 reference

17 August 2017

441-446

1 reference

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

17 August 2017

1 reference

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

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=3712754

Genetics of dystonia: an overview

29 September 2017

1 reference

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

Microstructural white matter changes in 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=3712754

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-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=3712754

Atypical phenotypes and clinical variability in a large Italian family with DYT1-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=3712754

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

29 September 2017

1 reference

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

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

29 September 2017

1 reference

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

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=3712754

The DYT1 phenotype and guidelines for diagnostic testing

29 September 2017

1 reference

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

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

29 September 2017

1 reference

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

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

29 September 2017

1 reference

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

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=3712754

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

29 September 2017

1 reference

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

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

29 September 2017

1 reference

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

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

29 September 2017

1 reference

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

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

4 September 2018

1 reference

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

Nomenclature for the description of human sequence variations.

4 September 2018

1 reference

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

Diagnostic criteria for dystonia in DYT1 families

4 September 2018

1 reference

PubMed

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

12 December 2020

inferred from PubMed ID database lookup

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

1 reference

PubMed

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

12 December 2020

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

PubMed

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

12 December 2020

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

Crossref

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

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/S1474-4422(09)70081-X

1 reference

17 August 2017

1 reference

PMC publication ID

3712754

17 August 2017

PubMed publication ID

19345147

1 reference

PMC publication ID

3712754