(Q50263254)

28 February 2018

title

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. (English)

1 reference

28 February 2018

author name string

Fu Bo Cheng

1

1 reference

28 February 2018

Laurie J Ozelius

2

1 reference

28 February 2018

Xin Hua Wan

3

1 reference

28 February 2018

Jia Chun Feng

4

1 reference

28 February 2018

Ling Yan Ma

5

1 reference

28 February 2018

Ying Mai Yang

6

1 reference

28 February 2018

Lin Wang

7

1 reference

28 February 2018

publication date

29 July 2011

1 reference

28 February 2018

published in

Journal of Neurology

1 reference

28 February 2018

volume

259

1 reference

28 February 2018

issue

2

1 reference

28 February 2018

page(s)

342-347

1 reference

28 February 2018

https://scigraph.springernature.com/pub.10.1007/s00415-011-6196-5

exact match

0 references

cites work

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

Novel THAP1 sequence variants in primary dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6196-5

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of THAP1 sequence variants in German patients with primary dystonia

1 reference

12 December 2020

Mutation screening of the DYT6/THAP1 gene in Italy

1 reference

12 December 2020

A molecular link between dystonia 1 and dystonia 6?

1 reference

12 December 2020

10.1007/S00415-011-6196-5

Identifiers

DOI

1 reference

28 February 2018

1 reference

28 February 2018