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150 related items for PubMed ID: 10222774

  • 1. [Clinical and molecular genetic studies of Machado-Joseph disease].
    Nishizawa M.
    Nihon Rinsho; 1999 Apr; 57(4):826-31. PubMed ID: 10222774
    [Abstract] [Full Text] [Related]

  • 2. [Linkage disequilibrium between the Machado-Joseph disease and intragenic polymorphisms].
    Ichikawa Y.
    Nihon Rinsho; 1999 Apr; 57(4):832-7. PubMed ID: 10222775
    [Abstract] [Full Text] [Related]

  • 3. [The molecular mechanisms of the instability of the CAG repeat].
    Igarashi S, Tsuji S.
    Nihon Rinsho; 1998 Apr; 56(4):1064-73. PubMed ID: 9577635
    [Abstract] [Full Text] [Related]

  • 4. Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.
    Takiyama Y, Sakoe K, Soutome M, Namekawa M, Ogawa T, Nakano I, Igarashi S, Oyake M, Tanaka H, Tsuji S, Nishizawa M.
    Hum Mol Genet; 1997 Jul; 6(7):1063-8. PubMed ID: 9215676
    [Abstract] [Full Text] [Related]

  • 5. Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.
    Maciel P, Gaspar C, Guimarães L, Goto J, Lopes-Cendes I, Hayes S, Arvidsson K, Dias A, Sequeiros J, Sousa A, Rouleau GA.
    Eur J Hum Genet; 1999 Jul; 7(2):147-56. PubMed ID: 10196697
    [Abstract] [Full Text] [Related]

  • 6. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
    Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang GX, Agid Y, St George-Hyslop PH, Brice A, Tsuji S.
    Hum Mol Genet; 1996 Jul; 5(7):923-32. PubMed ID: 8817326
    [Abstract] [Full Text] [Related]

  • 7. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease.
    Onodera O, Idezuka J, Igarashi S, Takiyama Y, Endo K, Takano H, Oyake M, Tanaka H, Inuzuka T, Hayashi T, Yuasa T, Ito J, Miyatake T, Tsuji S.
    Ann Neurol; 1998 Mar; 43(3):288-96. PubMed ID: 9506544
    [Abstract] [Full Text] [Related]

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  • 11. [Molecular genetics of Machado-Joseph disease].
    Kawakami H, Maruyama H, Nakamura S.
    Nihon Rinsho; 1996 Mar; 54(3):854-60. PubMed ID: 8904248
    [Abstract] [Full Text] [Related]

  • 12. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
    Matilla T, McCall A, Subramony SH, Zoghbi HY.
    Ann Neurol; 1995 Jul; 38(1):68-72. PubMed ID: 7611728
    [Abstract] [Full Text] [Related]

  • 13. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
    Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A.
    Ann Neurol; 1996 Apr; 39(4):490-9. PubMed ID: 8619527
    [Abstract] [Full Text] [Related]

  • 14. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.
    Lopes-Cendes I, Maciel P, Kish S, Gaspar C, Robitaille Y, Clark HB, Koeppen AH, Nance M, Schut L, Silveira I, Coutinho P, Sequeiros J, Rouleau GA.
    Ann Neurol; 1996 Aug; 40(2):199-206. PubMed ID: 8773601
    [Abstract] [Full Text] [Related]

  • 15. Muscle excitability abnormalities in Machado-Joseph disease.
    França MC, D'Abreu A, Nucci A, Lopes-Cendes I.
    Arch Neurol; 2008 Apr; 65(4):525-9. PubMed ID: 18413477
    [Abstract] [Full Text] [Related]

  • 16. [Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene].
    Igarashi S, Tsuji S.
    Nihon Rinsho; 1999 Apr; 57(4):811-7. PubMed ID: 10222771
    [Abstract] [Full Text] [Related]

  • 17. The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitations.
    Martorell L, Pujana MA, Volpini V, Sanchez A, Joven J, Vilella E, Estivill X.
    Hum Mutat; 1997 Apr; 10(6):486-8. PubMed ID: 9401013
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  • 19. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion.
    Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE.
    Ann Neurol; 1995 Oct; 38(4):684-7. PubMed ID: 7574470
    [Abstract] [Full Text] [Related]

  • 20. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
    Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M.
    Hum Mol Genet; 1995 Jul; 4(7):1137-46. PubMed ID: 8528200
    [Abstract] [Full Text] [Related]

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