Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases-Reference-Cited by-同舟云学术

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases

Published:2012-06 Issue:5 Volume:18 Page:414-425
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

LeDoux Mark S.,Xiao Jianfeng,Rudzińska Monika,Bastian Robert W.,Wszolek Zbigniew K.,Van Gerpen Jay A.,Puschmann Andreas,Momčilović Dragana,Vemula Satya R.,Zhao Yu

Funder

Neuroscience Institute at the University of Tennessee Health Science Center

Dystonia Medical Research Foundation

NIH

NIH U54 Dystonia Coalition

Pilot Projects Program

Parkinson’s & Movement Disorder Foundation

NIH National Institute of Neurological Disease

Stroke Morris K. Udall Center of Excellence for Parkinson Disease Research grant

NINDS

Swedish Parkinson Academy

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference52 articles.

1. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia;Fuchs;Nat Genet,2009

2. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein;Ozelius;Nat Genet,1997

3. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study;Bressman;Lancet Neurol,2009

4. Novel THAP1 sequence variants in primary dystonia;Xiao;Neurology,2010

5. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia;Houlden;Neurology,2010

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