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Year | Number of Results |
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2009 | 1 |
2010 | 1 |
2014 | 2 |
2016 | 1 |
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Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.
Hum Mutat. 2014 Sep;35(9):1101-13. doi: 10.1002/humu.22602. Epub 2014 Jul 17.
Hum Mutat. 2014.
PMID: 24930953
Free PMC article.
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.
Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P.
Vulinovic F, et al.
Hum Mutat. 2014 Sep;35(9):1114-22. doi: 10.1002/humu.22604. Epub 2014 Jul 17.
Hum Mutat. 2014.
PMID: 24931141
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Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
Calakos N, Patel VD, Gottron M, Wang G, Tran-Viet KN, Brewington D, Beyer JL, Steffens DC, Krishnan RR, Züchner S.
Calakos N, et al.
J Med Genet. 2010 Sep;47(9):646-50. doi: 10.1136/jmg.2009.072082. Epub 2009 Dec 2.
J Med Genet. 2010.
PMID: 19955557
Free PMC article.
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Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Bhagat SL, Qiu S, Caffall ZF, Wan Y, Pan Y, Rodriguiz RM, Wetsel WC, Badea A, Hochgeschwender U, Calakos N.
Bhagat SL, et al.
Neurobiol Dis. 2016 Sep;93:137-45. doi: 10.1016/j.nbd.2016.05.003. Epub 2016 May 7.
Neurobiol Dis. 2016.
PMID: 27168150
Free PMC article.
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