(Q33601311)

28 July 2017

title

Novel THAP1 sequence variants in primary dystonia (English)

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28 July 2017

9

Z K Wszolek

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28 July 2017

4

J S Perlmutter

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28 July 2017

J Xiao

1

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28 July 2017

Y Zhao

2

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28 July 2017

R W Bastian

3

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28 July 2017

B A Racette

5

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28 July 2017

S D Tabbal

6

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28 July 2017

M Karimi

7

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28 July 2017

R C Paniello

8

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28 July 2017

R J Uitti

10

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28 July 2017

J A Van Gerpen

11

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28 July 2017

D K Simon

12

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28 July 2017

D Tarsy

13

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28 July 2017

P Hedera

14

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28 July 2017

D D Truong

15

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28 July 2017

K P Frei

16

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28 July 2017

S Dev Batish

17

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28 July 2017

A Blitzer

18

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28 July 2017

R F Pfeiffer

19

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28 July 2017

S Gong

20

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28 July 2017

M S LeDoux

21

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28 July 2017

language of work or name

English

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publication date

1 January 2010

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28 July 2017

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28 July 2017

volume

74

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28 July 2017

issue

3

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28 July 2017

page(s)

229-238

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High-resolution DNA melting analysis: advancements and limitations

28 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=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

High-throughput mutational analysis of TOR1A in primary dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

A family study on primary blepharospasm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Dystonia: phenotypes and genotypes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Dystonia genotypes, phenotypes, and classification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Human non-synonymous SNPs: server and survey

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

A simple method for displaying the hydropathic character of a protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Blepharospasm: a review of 264 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

Idiopathic cervical dystonia: clinical characteristics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2809032

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=2809032

Focal and segmental primary dystonia in north-western Germany--a clinico-genetic study

30 October 2018

1 reference

12 December 2020

Spasmodic torticollis: clinical and biologic features and their implications for focal dystonia

1 reference

12 December 2020

Classification of dystonia

1 reference

12 December 2020

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

1 reference

12 December 2020

10.1212/WNL.0B013E3181CA00CA

Identifiers

DOI

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28 July 2017

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28 July 2017

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