(Q35210335)

7 August 2017

title

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia (English)

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7 August 2017

10

Ryan J Uitti

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7 August 2017

9

Zbigniew K Wszolek

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7 August 2017

4

Joel S Perlmutter

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7 August 2017

11

Jay A Van Gerpen

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7 August 2017

1

Jianfeng Xiao

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7 August 2017

6

Samer D Tabbal

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7 August 2017

8

Randal C Paniello

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7 August 2017

14

Peter Hedera

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7 August 2017

13

Daniel Tarsy

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7 August 2017

16

Karen P Frei

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7 August 2017

21

Mark S LeDoux

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7 August 2017

Yu Zhao

2

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7 August 2017

Robert W Bastian

3

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7 August 2017

Brad A Racette

5

1 reference

7 August 2017

Morvarid Karimi

7

1 reference

7 August 2017

David K Simon

12

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7 August 2017

Daniel D Truong

15

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7 August 2017

Andrew Blitzer

17

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7 August 2017

Monika Rudzińska

18

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7 August 2017

Ronald F Pfeiffer

19

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7 August 2017

Carrie Le

20

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7 August 2017

language of work or name

English

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publication date

1 February 2011

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7 August 2017

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7 August 2017

volume

26

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7 August 2017

issue

3

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7 August 2017

page(s)

549-552

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Novel THAP1 sequence variants in primary dystonia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Meige syndrome: What's in a name?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Epidemiology of primary dystonia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

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

13 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.23551

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.23551

Mutation screening of the DYT6/THAP1 gene in Italy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171986

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.23551

21 January 2018

Identifiers

DOI

10.1002/MDS.23551

1 reference

7 August 2017

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7 August 2017

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