(Q30502518)

13 October 2017

An African-American family with dystonia (English)

1 reference

13 October 2017

6

Zbigniew K Wszolek

1 reference

13 October 2017

Andreas Puschmann

1

1 reference

13 October 2017

Jianfeng Xiao

2

1 reference

13 October 2017

Robert W Bastian

3

1 reference

13 October 2017

Jill A Searcy

4

1 reference

13 October 2017

Mark S LeDoux

5

1 reference

13 October 2017

20 May 2011

1 reference

13 October 2017

4

1 reference

Parkinsonism and Related Disorders

inferred from page(s)

published in

1 reference

13 October 2017

17

1 reference

13 October 2017

7

1 reference

13 October 2017

547-550

1 reference

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

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Adult-onset leg dystonia due to a missense mutation in THAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Novel THAP1 sequence variants in primary dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

High-throughput mutational analysis of TOR1A in primary dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Race and global patterns of phenotypic variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Do primary adult-onset focal dystonias share aetiological factors?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Classification and genetics of dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Ethnic variation in the clinical expression of idiopathic torsion dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Non-DYT1 dystonia in a large Italian family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Torsion dystonia: a case report

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Mutation screening of the DYT6/THAP1 gene in Italy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Minimum incidence of primary cervical dystonia in a multiethnic health care population.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Phenotypic characterization of DYT13 primary torsion dystonia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137742

Prevalence of primary focal and segmental dystonia in Oslo

26 November 2018

1 reference

12 December 2020

Dystonia in the black and Puerto Rican population

1 reference

12 December 2020

Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe

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

10.1016/J.PARKRELDIS.2011.04.019

Identifiers

DOI

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

21601506

1 reference