Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models

Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models

Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. He...

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Bibliographic Details
Main Authors: Srishti L. Bhagat, Sunny Qiu, Zachary F. Caffall, Yehong Wan, Yuanji Pan, Ramona M. Rodriguiz, William C. Wetsel, Alexandra Badea, Ute Hochgeschwender, Nicole Calakos
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Neurobiology of Disease
Subjects:
DYT1 dystonia
TorsinA
Behavior
Long-term depression
Diffusion tensor magnetic resonance imaging
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116300948

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http://www.sciencedirect.com/science/article/pii/S0969996116300948

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