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Article

A role for cerebellum in the hereditary dystonia DYT1

15 Feb 2017

Abstract excerpt

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential developmental compensation between rodents and humans. To address this issue, torsinA was acutely knocked down in select brain...

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PMID: 28198698
DOI: 10.7554/elife.22775

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