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Journal Abstract Search

250 related items for PubMed ID: 10802779

  • 1. The DYT1 phenotype and guidelines for diagnostic testing.
    Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ.
    Neurology; 2000 May 09; 54(9):1746-52. PubMed ID: 10802779
    [Abstract] [Full Text] [Related]

  • 2. Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.
    Valente EM, Povey S, Warner TT, Wood NW, Davis MB.
    Ann Hum Genet; 1999 Jan 09; 63(Pt 1):1-8. PubMed ID: 10738516
    [Abstract] [Full Text] [Related]

  • 3. DYT1 mutation in primary torsion dystonia in a Serbian population.
    Major T, Svetel M, Romac S, Kostić VS.
    J Neurol; 2001 Nov 09; 248(11):940-3. PubMed ID: 11757956
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  • 4. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.
    Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C.
    Am J Hum Genet; 1994 Sep 09; 55(3):468-75. PubMed ID: 8079990
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 57(3):333-5. PubMed ID: 10714658
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  • 7. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
    Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB.
    Genet Test; 1999 Mar 09; 3(4):323-8. PubMed ID: 10627938
    [Abstract] [Full Text] [Related]

  • 8. 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 09; 21(9):1411-8. PubMed ID: 16773641
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  • 9. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
    Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O.
    Arch Neurol; 2003 Sep 09; 60(9):1266-70. PubMed ID: 12975293
    [Abstract] [Full Text] [Related]

  • 10. 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 Sep 09; 171(1):31-2. PubMed ID: 11993591
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  • 11. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
    Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M, Dallapiccola B, Smania N, Fiaschi A, Tinazzi M.
    Mov Disord; 2006 Oct 09; 21(10):1782-4. PubMed ID: 16874761
    [Abstract] [Full Text] [Related]

  • 12. Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
    Bressman SB, Hunt AL, Heiman GA, Brin MF, Burke RE, Fahn S, Trugman JM, de Leon D, Kramer PL, Wilhelmsen KC.
    Mov Disord; 1994 Nov 09; 9(6):626-32. PubMed ID: 7845403
    [Abstract] [Full Text] [Related]

  • 13. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.
    Slominsky PA, Markova ED, Shadrina MI, Illarioshkin SN, Miklina NI, Limborska SA, Ivanova-Smolenskaya IA.
    Hum Mutat; 1999 Sep 19; 14(3):269. PubMed ID: 10477437
    [Abstract] [Full Text] [Related]

  • 14. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.
    Bressman SB, Heiman GA, Nygaard TG, Ozelius LJ, Hunt AL, Brin MF, Gordon MF, Moskowitz CB, de Leon D, Burke RE.
    Neurology; 1994 Feb 19; 44(2):283-7. PubMed ID: 8309575
    [Abstract] [Full Text] [Related]

  • 15. No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.
    Tuffery-Giraud S, Cavalier L, Roubertie A, Guittard C, Carles S, Calvas P, Echenne B, Coubes P, Claustres M.
    J Med Genet; 2001 Oct 19; 38(10):E35. PubMed ID: 11584049
    [No Abstract] [Full Text] [Related]

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  • 17. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
    Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF.
    Am J Hum Genet; 1992 Mar 19; 50(3):619-28. PubMed ID: 1347197
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  • 18. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
    Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman A, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ.
    Hum Mol Genet; 1998 Jul 19; 7(7):1133-6. PubMed ID: 9618171
    [Abstract] [Full Text] [Related]

  • 19. Diagnostic criteria for dystonia in DYT1 families.
    Bressman SB, Raymond D, Wendt K, Saunders-Pullman R, De Leon D, Fahn S, Ozelius L, Risch N.
    Neurology; 2002 Dec 10; 59(11):1780-2. PubMed ID: 12473770
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