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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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Bibliografiset tiedot
Päätekijät: Liang, Chun-Chi, Tanabe, Lauren M., Jou, Stephanie, Chi, Frank, Dauer, William T.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 2014
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Linkit: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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