A rare sequence variant in intron 1 of THAP 1 is associated with primary dystonia-Reference-Cited by-同舟云学术

A rare sequence variant in intron 1 of THAP 1 is associated with primary dystonia

Published:2014-02-11 Issue:3 Volume:2 Page:261-272
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Vemula Satya R.¹,Xiao Jianfeng¹,Zhao Yu¹,Bastian Robert W.²,Perlmutter Joel S.³,Racette Brad A.³,Paniello Randal C.⁴,Wszolek Zbigniew K.⁵,Uitti Ryan J.⁵,Gerpen Jay A.⁵,Hedera Peter⁶,Truong Daniel D.⁷,Blitzer Andrew⁸,Rudzińska Monika⁹,Momčilović Dragana¹⁰,Jinnah Hyder A.¹¹,Frei Karen¹²,Pfeiffer Ronald F.¹,LeDoux Mark S.¹

Affiliation:

1. Departments of Neurology and Anatomy & Neurobiology University of Tennessee Health Science Center Memphis Tennessee 38163

2. Bastian Voice Institute Downers Grove Illinois

3. Department of Neurology Washington University School of Medicine St. Louis Missouri

4. Department of Otolaryngology‐Head and Neck Surgery Washington University School of Medicine St. Louis Missouri

5. Department of Neurology Mayo Clinic Jacksonville Florida 32224

6. Department of Neurology Vanderbilt University Nashville Tennessee

7. Parkinson's & Movement Disorder Institute Fountain Valley California 92708

8. New York Center for Voice and Swallowing Disorders New York New York

9. Department of Neurology Jagiellonian University Medical College in Krakow Kraków Poland

10. Clinic for Child Neurology and Psychiatry Medical Faculty University of Belgrade Belgrade Serbia

11. Departments of Neurology, Human Genetics, and Pediatrics School of Medicine Emory University Atlanta Georgia 30322

12. Department of Neurology Loma Linda University Health System Loma Linda California 92354

Funder

Neuroscience Institute at the University of Tennessee Health Science Center

Dystonia Medical Research Foundation

National Institutes of Health

National Institute of Neurological Disease and Stroke

NIH U54 Dystonia Coalition

Clinical Sciences Translation Award

American Parkinson's Disease Association Advanced Research Center

Greater St. Louis Chapter of the APDA

Barnes-Jewish Hospital Foundation

PD Research Fund

Elliot H. Stein Family Fund

Missouri Chapter of the Dystonia Research Foundation

Murphy Fund

Morris K. Udall Center of Excellence for Parkinson Disease Research

Mayo Clinic Center for Regenerative Medicine

Long Beach Memorial Foundation

Orange Coast Memorial Foundation

Parkinson's & Movement Disorder Foundation

NIH Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.67

Reference58 articles.

1. Phenomenology and classification of dystonia: A consensus update

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4. Cdk2 associates with MAP Kinase in vivo and its nuclear translocation is dependent on MAP Kinase activation in IL-2-dependent Kit 225 T lymphocytes

5. Prediction of human mRNA donor and acceptor sites from the DNA sequence

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