Mutations in GNAL cause primary torsion dystonia-Reference-Cited by-同舟云学术

Mutations in GNAL cause primary torsion dystonia

Published:2012-12-09 Issue:1 Volume:45 Page:88-92
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Fuchs Tania,Saunders-Pullman Rachel,Masuho Ikuo,Luciano Marta San,Raymond Deborah,Factor Stewart,Lang Anthony E,Liang Tsao-Wei,Trosch Richard M,White Sierra,Ainehsazan Edmond,Hervé Denis,Sharma Nutan,Ehrlich Michelle E,Martemyanov Kirill A,Bressman Susan B,Ozelius Laurie J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2496.pdf

Reference66 articles.

1. Fahn, S. Concept and classification of dystonia. Adv. Neurol. 50, 1–8 (1988).

2. Fahn, S., Bressman, S.B. & Marsden, C.D. Classification of dystonia. Adv. Neurol. 78, 1–10 (1998).

3. Ozelius, L.J. et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 17, 40–48 (1997).

4. Fuchs, T. et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat. Genet. 41, 286–288 (2009).

5. Xiao, J. et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann. Neurol. 71, 458–469 (2012).

Cited by 276 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuron specific quantitation of Gαolf expression and signaling in murine brain tissue;Brain Research;2024-11

2. Conditional Knockout of Striatal Gnal Produces Dystonia-like Motor Phenotypes;2024-08-28

3. Get Ready to Sharpen Your Tools: A Short Guide to Heterotrimeric G Protein Activity Biosensors;Molecular Pharmacology;2024-07-11

4. Conformation- and activation-based BRET sensors differentially report on GPCR–G protein coupling;Science Signaling;2024-06-18

5. Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations;Movement Disorders Clinical Practice;2024-06-08