Heterogeneity in primary dystonia: Lessons from THAP1 , GNAL , and TOR1A in Amish-Mennonites-Reference-Cited by-同舟云学术

Heterogeneity in primary dystonia: Lessons from THAP1 , GNAL , and TOR1A in Amish-Mennonites

Published:2014-02-05 Issue:6 Volume:29 Page:812-818
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Saunders-Pullman Rachel¹²,Fuchs Tania³,San Luciano Marta⁴,Raymond Deborah¹,Brashear Alison⁵,Ortega Robert¹,Deik Andres¹,Ozelius Laurie J.³⁶,Bressman Susan B.¹²

Affiliation:

1. Department of Neurology; Beth Israel Medical Center; New York New York USA

2. Department of Neurology; Albert Einstein College of Medicine; Bronx New York USA

3. Department of Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York New York USA

4. Department of Neurology; University of California-San Francisco; San Francisco California USA

5. Department of Neurology; Wake Forest School of Medicine; Winston Salem North Carolina USA

6. Department of Neurology; Icahn School of Medicine at Mount Sinai; New York New York USA

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25818/fullpdf

Reference39 articles.

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

2. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families;Almasy;Ann Neurol,1997

3. Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites;Saunders-Pullman;Am J Med Genet A,2007

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

5. Identification and functional analysis of novel THAP1 mutations;Lohmann;Eur J Hum Genet,2012

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