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Journal Abstract Search

179 related items for PubMed ID: 10738516

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  • 24. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
    Kramer PL, de Leon D, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Burke RE, Kwiatkowski DJ, Shale H.
    Ann Neurol; 1990 Feb; 27(2):114-20. PubMed ID: 2317008
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  • 26. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
    Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G.
    Neurogenetics; 2008 May; 9(2):143-50. PubMed ID: 18322712
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  • 27. Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.
    O'Riordan S, Cockburn D, Barton D, Lynch T, Hutchinson M.
    Ir J Med Sci; 2002 May; 171(1):31-2. PubMed ID: 11993591
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  • 28. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
    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.
    Nat Genet; 1997 Sep; 17(1):40-8. PubMed ID: 9288096
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  • 29. The role of DYT1 in primary torsion dystonia in Europe.
    Valente EM, Warner TT, Jarman PR, Mathen D, Fletcher NA, Marsden CD, Bhatia KP, Wood NW.
    Brain; 1998 Dec; 121 ( Pt 12)():2335-9. PubMed ID: 9874484
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  • 31. DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.
    Yang JF, Wu T, Li JY, Li YJ, Zhang YL, Chan P.
    Neurosci Lett; 2009 Jan 30; 450(2):117-21. PubMed ID: 19038309
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  • 36. Mutations in DYT1: extension of the phenotypic and mutational spectrum.
    Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C.
    Neurology; 2004 Feb 10; 62(3):395-400. PubMed ID: 14872019
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  • 37. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
    Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M, Rubinstein WS, HEBON, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P, Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Barkardottir RB, Montagna M, D'Andrea E, kConFab, Devilee P, Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H, Ontario Cancer Genetics Network, Toland AE, Caligo MA, SWE-BRCA, Beattie MS, Chan S, UKFOCR, Domchek SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M, Weitzel JN, Garber J, Hamann U, EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK, Wappenschmidt B, Laitman Y, Meindl A, Deissler H, Varon-Mateeva R, Preisler-Adams S, Kast K, Venat-Bouvet L, Stoppa-Lyonnet D, Chenevix-Trench G, Easton DF, Klein RJ, Daly MJ, Friedman E, Dean M, Clark AG, Altshuler DM, Antoniou AC, Couch FJ, Offit K, Gold B.
    Hum Genet; 2011 Nov 10; 130(5):685-99. PubMed ID: 21597964
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  • 38. Frequency of the DYT1 mutation in primary torsion dystonia without family history.
    Brassat D, Camuzat A, Vidailhet M, Feki I, Jedynak P, Klap P, Agid Y, Dürr A, Brice A.
    Arch Neurol; 2000 Mar 10; 57(3):333-5. PubMed ID: 10714658
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  • 39. Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
    Fasano A, Nardocci N, Elia AE, Zorzi G, Bentivoglio AR, Albanese A.
    Mov Disord; 2006 Sep 10; 21(9):1411-8. PubMed ID: 16773641
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  • 40. [Early-onset torsion dystonia linked to chromosome 9q34: DYT1].
    Nomura Y.
    Ryoikibetsu Shokogun Shirizu; 1999 Sep 10; (27 Pt 2):139-43. PubMed ID: 10434613
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