De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

By Brin M.F.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1133-1136

Oxford University Press

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A Drosophila model of early onset torsion dystonia suggests impairment in TGF- signaling

By Koh Young-Ho   Rehfeld Kimberly   Ganetzky Barry  

Human Molecular Genetics, Vol. 13, Iss. 18, 2004-09 ,pp. : 2019-2030

Oxford University Press

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The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response

By Chen Pan   Burdette Alexander J.   Porter J. Christopher   Ricketts John C.   Fox Stacey A.   Nery Flavia C.   Hewett Jeffrey W.   Berkowitz Laura A.   Breakefield Xandra O.   Caldwell Kim A.   Caldwell Guy A.  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3502-3515

Oxford University Press

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The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response

By Chen Pan   Burdette Alexander J.   Porter J. Christopher   Ricketts John C.   Fox Stacey A.   Nery Flavia C.   Hewett Jeffrey W.   Berkowitz Laura A.   Breakefield Xandra O.   Caldwell Kim A.   Caldwell Guy A.  

Human Molecular Genetics, Vol. 21, Iss. 5, 2012-03 ,pp. : 1201-1201

Oxford University Press

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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

By Hewett Jeffrey   Gonzalez-Agosti Charo   Slater Damien   Ziefer Philipp   Li Sang   Bergeron Daniele   Jacoby David J.   Ozelius Laurie J.   Ramesh Vijaya   Breakefield Xandra O.  

Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1403-1413

Oxford University Press

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