(Q33730350)

29 July 2017

title

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

1 reference

29 July 2017

M Edwards

6

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John Anthony Hardy

7

object named as

J Hardy

1 reference

29 July 2017

H Houlden

1

1 reference

29 July 2017

S A Schneider

2

1 reference

29 July 2017

R Paudel

3

1 reference

29 July 2017

A Melchers

4

1 reference

29 July 2017

P Schwingenschuh

5

1 reference

29 July 2017

K P Bhatia

8

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 March 2010

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29 July 2017

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29 July 2017

volume

74

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29 July 2017

issue

10

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29 July 2017

page(s)

846-850

1 reference

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

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

14 July 2018

Mutation nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

The pathophysiological basis of dystonias.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

Dystonia: clinical approach

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

The pRb/E2F cell-cycle pathway mediates cell death in Parkinson's disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

Dystonia: clinical features, genetics, and treatment

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

The role of the DYT1 gene in secondary dystonia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2839194

An unusual family with multiple movement disorders

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20211909

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnostic criteria for dystonia in DYT1 families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20211909

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3181D5276D

1 reference

29 July 2017

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29 July 2017

1 reference