TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. Most cases are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A (DYT1) gene, which is widely expressed in human brain and encodes the protein torsinA. This study compares neuropatholo...

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Bibliographic Details
Main Authors: Kevin Rostasy, Sarah J Augood, Jeffrey W Hewett, Joanne Chung-on Leung, Hikaru Sasaki, Laurie J Ozelius, Vijaya Ramesh, David G Standaert, Xandra O Breakefield, John C Hedreen
Format: Article
Language:English
Published: Elsevier 2003-02-01
Series:Neurobiology of Disease
Subjects:
Torsin
Dystonia
Human brain
Substantia nigra
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996102000104

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http://www.sciencedirect.com/science/article/pii/S0969996102000104

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