| 1 | DEL9QO, ENG, SPTAN1, STXBP1, TOR1A
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| Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
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| Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F.
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| Genet Med 14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21.
2012
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| 2 | DYT1, TOR1A
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| Clinical feature and DYT1 mutation screening in primary dystonia patients from South-West China.
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| Zhang SS, Fang DF, Hu XH, Burgunder JM, Chen XP, Zhang YW, Shang HF.
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| Eur J Neurol ur J Neurol. 2010 Jan 26. [Epub ahead of print]PMID: 20113340 2010
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| 3 | DYT1, TOR1A
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| Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.
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| Cao S, Hewett JW, Yokoi F, Lu J, Buckley AC, Burdette AJ, Chen P, Nery FC, Li Y, Breakefield XO, Caldwell GA, Caldwell KA.
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| Dis Model Mech is Model Mech. 2010 Mar 11. [Epub ahead of print]PMID: 20223934 2010
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| 4 | DYT1, TOR1A
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| Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
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| Calakos N, Patel VD, Gottron M, Wang G, Tran-Viet KN, Brewington D, Beyer JL, Steffens DC, Krishnan RR, Züchner S.
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| J Med Genet 47(9):646-50. Epub 2009 Dec 2.PMID: 19955557 2010
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| 5 | DYT1, KLHL14, TOR1A
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| Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.
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| Giles LM, Li L, Chin LS.
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| J Biol Chem 284(32):21765-75. Epub 2009 Jun 17.PMID: 19535332 2009
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| 6 | DYT1, TOR1A
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| The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?
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| Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C.
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| Neurology 72(16):1441-3. No abstract available. PMID: 19380705 2009
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| 7 | TOR1A, DYT1, SNAPIN
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| The dystonia-associated protein torsinA modulates synaptic vesicle recycling.
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| Granata A, Watson R, Collinson LM, Schiavo G, Warner TT.
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| J Biol Chem 283(12):7568-79. Epub 2007 Dec 31. 2008
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| 8 | DYT1, TOR1A
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| Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope.
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| Giles LM, Chen J, Li L, Chin LS.
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| Hum Mol Genet 17(17):2712-22. Epub 2008 Jun 14.
2008
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| 9 | SYNE1, SYNE2, TOR1A
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| TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
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| Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO.
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| J Cell Sci 121(Pt 20):3476-86. Epub 2008 Sep 30.
2008
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| 10 | TOR1A
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| Regulation of DYT1 gene expression by the Ets family of transcription factors.
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| Armata IA, Ananthanarayanan M, Balasubramaniyan N, Shashidharan P.
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| J Neurochem 106(3):1052-65. Epub 2008 May 5.
2008
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| 11 | SYNE3, TOR1A
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| TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
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| Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO.
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| J Cell Sci 121(Pt 20):3476-86. doi: 10.1242/jcs.029454. Epub 2008 Sep 30. 2008
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| 12 | DYT1, TOR1A
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| Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia.
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| Risch NJ, Bressman SB, Senthil G, Ozelius LJ.
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| Am J Hum Genet 80(6):1188-93. Epub 2007 Apr 27. 2007
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| 13 | TOR1A, DYT1
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| Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.
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| Hewett JW, Tannous B, Niland BP, Nery FC, Zeng J, Li Y, Breakefield XO.
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| Proc Natl Acad Sci U S A 104(17):7271-6. Epub 2007 Apr 11. 2007
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| 14 | TOR1A, DYT1
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| Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.
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| Kock N, Naismith TV, Boston HE, Ozelius LJ, Corey DP, Breakefield XO, Hanson PI.
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| Hum Mol Genet 15(8):1355-64. Epub 2006 Mar 14. 2006
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| 15 | TOR1A
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| The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.
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| Goodchild RE, Dauer WT.
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| J Cell Biol 168(6):855-62. 2005
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| 16 | TOR1A
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| Torsin A haplotype predisposes to idiopathic dystonia.
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| Clarimon J, Asgeirsson H, Singleton A, Jakobsson F, Hjaltason H, Hardy J, Sveinbjornsdottir S.
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| Ann Neurol 57(5):765-7. 2005
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| 17 | DYT1, TOR1A
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| TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.
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| Gerace L.
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| Proc Natl Acad Sci U S A 101(24):8839-40. Epub 2004 Jun 08. No abstract available. 2004
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| 18 | TOR1A, DYT1
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| Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.
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| Torres GE, Sweeney AL, Beaulieu JM, Shashidharan P, Caron MG.
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| Proc Natl Acad Sci U S A 101(44):15650-5. Epub 2004 Oct 25. 2004
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| 19 | TOR1A
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| Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.
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| Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB.
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| Neurology 63(4):631-7. 2004
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| 20 | DYT1, TOR1A
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| TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
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| Rostasy K, Augood SJ, Hewett JW, Leung JC, Sasaki H, Ozelius LJ, Ramesh V, Standaert DG, Breakefield XO, Hedreen JC.
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| Neurobiol Dis 12(1):11-24. 2003
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| 21 | DYT1, TOR1A
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| Characterization of human torsinA and its dystonia-associated mutant form.
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| Liu Z, Zolkiewska A, Zolkiewski M.
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| Biochem J 374(Pt 1):117-22. 2003
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| 22 | TOR1A
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| TorsinA, microtubules and cell polarity.
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| Toninelli GF, Spano P, Memo M.
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| Funct Neurol 18(1):7-10. Review. 2003
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| 23 | DYT1, TOR1A
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| Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
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| Hjermind LE, Werdelin LM, Sorensen SA.
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| Eur J Hum Genet 10(3):213-6. 2002
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| 24 | DYT1, TOR1B, TOR1A
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| Cellular distribution of torsin A and torsin B in normal human brain.
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| Konakova M, Huynh DP, Yong W, Pulst SM.
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| Arch Neurol 58(6):921-7. 2001
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| 25 | DYT1, TOR1A
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| DYT1 mutation in French families with idiopathic torsion dystonia.
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| Lebre AS, et al.
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| Brain 122 ( Pt 1):41-5. 1999
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| 26 | DYT1, TOR1A, TOR1B, TOR2A
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| The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
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| Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C,Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO.
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| Genomics 62(3):377-84. 1999
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| 27 | DYT1, GCH1, TOR1A
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| A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.
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| Imaiso Y, Taniwaki T, Yamada T, Yoshimura T, Hirano M, Ueno S, Kaneda N, Kira J.
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| Neurology 50(2):517-9. 1998
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| 28 | DYT1, DYT3, PNKD, TOR1A
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| The dystonias.
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| Jarman PR, et al.
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| J Med Genet 35 : 314-318. 1998
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| 29 | DYT1, TOR1A
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| De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
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| Klein C, et al.
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| Hum Mol Genet 7 : 1133-1136. 1998
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| 30 | D9S159, D9S2158, D9S2159, D9S2160, D9S2161, D9S2162, D9S2163, TOR1A
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| Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34 : YAC map and linkage disequilibrium.
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| Ozelius LJ, et al.
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| Genome Res 7 : 483-494. 1997
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| 31 | DYT1, TOR1A
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| Secondary dystonia and the DYTI gene.
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| Bressman SB, de Leon D, Raymond D, Greene PE, Brin MF, Fahn S, Ozelius LJ, Breakefield XO, Kramer PL, Risch NJ.
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| Neurology 48(6):1571-7. 1997
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| 32 | TOR1B, DYT1, TOR1A
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| The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
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| Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO.
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| Nat Genet 17(1):40-8. 1997
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| 33 | DYT1, TOR1A
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| Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.
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| Holmgren G, et al.
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| J Neurol Neurosurg Psychiatry 59 : 178-181. 1995
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| 34 | DYT1, TOR1A
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| The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q.
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| Wahlstršm J, et al.
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| Clin Genet 45 : 88-92. 1994
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| 35 | DYT1, TOR1A
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| The DYTI gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.
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| Kramer PL, et al.
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| Am J Hum Genet 55 : 468-475. 1994
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| 36 | DYT1, TOR1A
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| Dystonia in Ashkenazi Jews : clinical characterization of a founder mutation.
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| Bressman SB, et al.
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| Ann Neurol 36 : 771-777. 1994
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| 37 | DYT1, TOR1A
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| Linkage analysis with chromosome 9 markers in hereditary essential tremor.
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| Conway D, et al.
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| Mov Disord 8 : 374-376. 1993
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| 38 | DYT1, TOR1A
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| The familial dysautonomia gene maps to chromosome 9q31-33 and shows strong allelic association with D9S58.
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| Blumenfeld A, et al.
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| Am J Hum Genet 53 : 979. 1993
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| 39 | DYT1, TOR1A
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| Evidence for locus heterogeneity in autosomal dominant torsion dystonia.
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| Ahmad F, et al.
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| Genomics 15 : 9-12. 1993
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| 40 | DYT1, TOR1A
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| Strong allelic association between the torsion dystonia gene (DYTI) and loci on chromosome 9q34 in Ashkenazi Jews.
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| Ozelius LJ, et al.
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| Am J Hum Genet 50 : 619-628. 1992
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| 41 | DYT1, TOR1A
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| Idiopathic torsion dystonia in Ashkenazim : a distinct phenotype of a single mutation.
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| Bressman SB, et al.
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| Am J Hum Genet 51 : A209. 1992
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| 42 | DYT1, TOR1A
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| Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.
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| Kwiatkowski DJ, et al.
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| Am J Hum Genet 49 : 366-371. 1991
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| 43 | DYT1, TOR1A
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| Evidence for genetic heterogeneity in autosomal dominant torsion dystonia.
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| Ahmad F, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1934. 1991
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| 44 | DYT1, TOR1A
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| Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus : exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
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| Kwiatkowski DJ, et al.
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| Am J Hum Genet 48 : 121-128. 1991
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| 45 | DYT1, TOR1A
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| Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
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| Kramer PL, et al.
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| Ann Neurol 27 : 114-120. 1990
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| 46 | DYT1, TOR1A
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| Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.
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| Risch NJ, et al.
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| Am J Hum Genet 46 : 533-538. 1990
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| 47 | DYT1, TOR1A
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| The genetics of idiopathic torsion dystonia.
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| Fletcher NA.
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| J Med Genet 27 : 409-412. 1990
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| 48 | CTLN1, DYT1, GSN, TOR1A
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| Highly informative (GT)n polymorphisms from 9q32-34 permit creation of a high resolution map and delineation of a region likely to contain genes for torsion dystonia (DYT1), tuberous sclerosis (TSC1), and nail-patella syndrome (NPS1).
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| Kwiatkowski DJ, et al.
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| Am J Hum Genet 47 : A187. 1990
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| 49 | DYT1, TOR1A
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| Human gene for torsion dystonia located on chromosome 9q32-q34.
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| Ozelius L, et al.
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| Neuron 2 : 1427-1434. 1989
|