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674 related items for PubMed ID: 8619527

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.
    Cancel G, Gourfinkel-An I, Stevanin G, Didierjean O, Abbas N, Hirsch E, Agid Y, Brice A.
    Hum Mutat; 1998 Aug; 11(1):23-7. PubMed ID: 9450899
    [Abstract] [Full Text] [Related]

  • 5. [Clinico-genetic study of type I spinocerebelllar ataxia].
    Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.
    Srp Arh Celok Lek; 1999 Aug; 127(5-6):157-62. PubMed ID: 10500422
    [Abstract] [Full Text] [Related]

  • 6. [CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia].
    Tang B, Xia J, Wang D, Tang X, Shen L, Liu C, Dai H, Yan X, Pan Q, Xiao J, Zhang B, Ou Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Oct; 16(5):281-4. PubMed ID: 10514531
    [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]

  • 8. Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.
    Hashida H, Goto J, Kurisaki H, Mizusawa H, Kanazawa I.
    Ann Neurol; 1997 Apr; 41(4):505-11. PubMed ID: 9124808
    [Abstract] [Full Text] [Related]

  • 9. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.
    Ikeuchi T, Takano H, Koide R, Horikawa Y, Honma Y, Onishi Y, Igarashi S, Tanaka H, Nakao N, Sahashi K, Tsukagoshi H, Inoue K, Takahashi H, Tsuji S.
    Ann Neurol; 1997 Dec; 42(6):879-84. PubMed ID: 9403480
    [Abstract] [Full Text] [Related]

  • 10. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
    Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT.
    Am J Hum Genet; 1995 Sep; 57(3):603-8. PubMed ID: 7668288
    [Abstract] [Full Text] [Related]

  • 11. [SCA1, SCA2, MJD/SCA3 (CAG)n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families].
    Tang B, Wang D, Xia J.
    Zhonghua Yi Xue Za Zhi; 1997 Nov; 77(11):819-22. PubMed ID: 9772474
    [Abstract] [Full Text] [Related]

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  • 13. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
    Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev VA, Alexeev VP, Gajdusek DC.
    Ann Neurol; 1996 Apr; 39(4):500-6. PubMed ID: 8619528
    [Abstract] [Full Text] [Related]

  • 14. Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci.
    MacMillan JC, Voisey J, Healey SC, Martin NG.
    J Med Genet; 1999 Mar; 36(3):258-9. PubMed ID: 10204858
    [Abstract] [Full Text] [Related]

  • 15. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth.
    Giunti P, Sweeney MG, Harding AE.
    Brain; 1995 Oct; 118 ( Pt 5)():1077-85. PubMed ID: 7496771
    [Abstract] [Full Text] [Related]

  • 16. Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.
    Lopes-Cendes I, Teive HG, Calcagnotto ME, Da Costa JC, Cardoso F, Viana E, Maciel JA, Radvany J, Arruda WO, Trevisol-Bittencourt PC, Rosa Neto P, Silveira I, Steiner CE, Pinto Júnior W, Santos AS, Correa Neto Y, Werneck LC, Araújo AQ, Carakushansky G, Mello LR, Jardim LB, Rouleau GA.
    Arq Neuropsiquiatr; 1997 Sep; 55(3B):519-29. PubMed ID: 9629399
    [Abstract] [Full Text] [Related]

  • 17. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.
    Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, Duyckaerts C, Penet C, Cann HM, Agid Y.
    Am J Hum Genet; 1995 Oct; 57(4):809-16. PubMed ID: 7573040
    [Abstract] [Full Text] [Related]

  • 18. The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.
    Matsumura R, Takayanagi T, Fujimoto Y, Murata K, Mano Y, Horikawa H, Chuma T.
    J Neurol Sci; 1996 Jul; 139(1):52-7. PubMed ID: 8836972
    [Abstract] [Full Text] [Related]

  • 19. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD).
    Haberhausen G, Damian MS, Leweke F, Müller U.
    J Neurol Sci; 1995 Sep; 132(1):71-5. PubMed ID: 8523034
    [Abstract] [Full Text] [Related]

  • 20. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.
    Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH.
    Neurology; 1996 Jan; 46(1):208-13. PubMed ID: 8559377
    [Abstract] [Full Text] [Related]

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