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Journal Abstract Search

208 related items for PubMed ID: 7979224

  • 1. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.
    Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ.
    Ann Neurol; 1994 Nov; 36(5):771-7. PubMed ID: 7979224
    [Abstract] [Full Text] [Related]

  • 2. 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; 9(6):626-32. PubMed ID: 7845403
    [Abstract] [Full Text] [Related]

  • 3. 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; 50(3):619-28. PubMed ID: 1347197
    [Abstract] [Full Text] [Related]

  • 4. Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.
    Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO.
    Mov Disord; 1996 Mar; 11(2):163-6. PubMed ID: 8684386
    [Abstract] [Full Text] [Related]

  • 5. 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; 55(3):468-75. PubMed ID: 8079990
    [Abstract] [Full Text] [Related]

  • 6. The genetics of idiopathic torsion dystonia.
    Fahn S.
    Int J Neurol; 1994 Sep; 25-26():70-80. PubMed ID: 11980065
    [Abstract] [Full Text] [Related]

  • 7. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
    Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S.
    Nat Genet; 1995 Feb; 9(2):152-9. PubMed ID: 7719342
    [Abstract] [Full Text] [Related]

  • 8. 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; 60(9):1266-70. PubMed ID: 12975293
    [Abstract] [Full Text] [Related]

  • 9. Secondary dystonia and the DYTI gene.
    Bressman SB, de Leon D, Raymond D, Greene PE, Brin MF, Fahn S, Ozelius LJ, Breakefield XO, Kramer PL, Risch NJ.
    Neurology; 1997 Jun; 48(6):1571-7. PubMed ID: 9191768
    [Abstract] [Full Text] [Related]

  • 10. Exclusion of the DYT1 locus in familial torticollis.
    Bressman SB, Warner TT, Almasy L, Uitti RJ, Greene PE, Heiman GA, Raymond D, Ford B, de Leon D, Fahn S, Kramer PL, Risch NJ, Maraganore DM, Nygaard TG, Harding AE.
    Ann Neurol; 1996 Oct; 40(4):681-4. PubMed ID: 8871591
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals.
    Berman DB, Costalas J, Schultz DC, Grana G, Daly M, Godwin AK.
    Cancer Res; 1996 Aug 01; 56(15):3409-14. PubMed ID: 8758903
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 21(10):1782-4. PubMed ID: 16874761
    [Abstract] [Full Text] [Related]

  • 14. DYT1 mutation in French families with idiopathic torsion dystonia.
    Lebre AS, Durr A, Jedynak P, Ponsot G, Vidailhet M, Agid Y, Brice A.
    Brain; 1999 Jan 01; 122 ( Pt 1)():41-5. PubMed ID: 10050893
    [Abstract] [Full Text] [Related]

  • 15. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
    Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG.
    Ann Neurol; 1997 Oct 01; 42(4):670-3. PubMed ID: 9382482
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 63(Pt 1):1-8. PubMed ID: 10738516
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation.
    Edwards MJ, Huang YZ, Wood NW, Rothwell JC, Bhatia KP.
    Brain; 2003 Sep 19; 126(Pt 9):2074-80. PubMed ID: 12821514
    [Abstract] [Full Text] [Related]

  • 20. Early onset torsion dystonia (Oppenheim's dystonia).
    Kamm C.
    Orphanet J Rare Dis; 2006 Nov 27; 1():48. PubMed ID: 17129379
    [Abstract] [Full Text] [Related]

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