(Q35679795)

9 August 2017

Identification and functional analysis of novel THAP1 mutations (English)

1 reference

9 August 2017

15

Alexander Münchau

1 reference

9 August 2017

19

Elena Moro

1 reference

9 August 2017

23

Christine Klein

1 reference

9 August 2017

14

Eckart Altenmüller

1 reference

9 August 2017

1

Katja Lohmann

1 reference

9 August 2017

21

Vladimir Kostic

1 reference

9 August 2017

13

Alexander Schmidt

1 reference

9 August 2017

Nils Uflacker

2

1 reference

9 August 2017

Alev Erogullari

3

1 reference

9 August 2017

Thora Lohnau

4

1 reference

9 August 2017

Susen Winkler

5

1 reference

9 August 2017

Andreas Dendorfer

6

1 reference

9 August 2017

Susanne A Schneider

7

1 reference

9 August 2017

Alma Osmanovic

8

1 reference

9 August 2017

Marina Svetel

9

1 reference

9 August 2017

Andreas Ferbert

10

1 reference

9 August 2017

Simone Zittel

11

1 reference

9 August 2017

Andrea A Kühn

12

1 reference

9 August 2017

Christoph Kamm

16

1 reference

9 August 2017

Matthias Wittstock

17

1 reference

9 August 2017

Andreas Kupsch

18

1 reference

9 August 2017

Jens Volkmann

20

1 reference

9 August 2017

Frank J Kaiser

22

1 reference

9 August 2017

Norbert Brüggemann

24

1 reference

9 August 2017

17 August 2011

1 reference

European Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

20

1 reference

9 August 2017

2

1 reference

9 August 2017

171-175

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.159

9 August 2017

0 references

cites work

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Novel THAP1 sequence variants in primary dystonia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

SIFT: Predicting amino acid changes that affect protein function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Truncating mutations in THAP1 define the nuclear localization signal.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Structural determinants of specific DNA-recognition by the THAP zinc finger

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Mutation screening of the DYT6/THAP1 gene in Italy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

GIGYF2 variants are not associated with Parkinson's disease in Italy

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.159

THAP1 mutations are infrequent in spasmodic dysphonia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260936

Classification of dystonia

7 December 2018

1 reference

12 December 2020

Prevalence of THAP1 sequence variants in German patients with primary dystonia

1 reference

12 December 2020

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

1 reference

12 December 2020

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

1 reference

12 December 2020

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China

1 reference

12 December 2020

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

1 reference

12 December 2020

Tolcapone: COMT inhibition for the treatment of Parkinson's disease

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.159

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2011.159

1 reference

release_zznlt4xzdndepnu6gvlihmmgaa

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zznlt4xzdndepnu6gvlihmmgaa

24 November 2022

mapped directly with Wikidata item

PMCID

3260936

1 reference

9 August 2017

1 reference