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TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements has stymied identification of the cellular and molecular underpinnings of the disease. The classical familial form of primary dystonia is caused by the DYT1 (ΔE) mutation in TOR1A, which encodes torsinA, A...

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Bibliografische gegevens
Hoofdauteurs: Liang, Chun-Chi, Tanabe, Lauren M., Jou, Stephanie, Chi, Frank, Dauer, William T.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2014
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4071385/
https://ncbi.nlm.nih.gov/pubmed/24937429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI72830
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