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Journal Abstract Search

262 related items for PubMed ID: 7573040

  • 1. 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]

  • 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. 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]

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
    Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J.
    Arch Neurol; 2000 Apr; 57(4):540-4. PubMed ID: 10768629
    [Abstract] [Full Text] [Related]

  • 10. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.
    Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA.
    Am J Med Genet; 1998 Mar 28; 81(2):134-8. PubMed ID: 9613852
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar 28; 11(1):23-7. PubMed ID: 9450899
    [Abstract] [Full Text] [Related]

  • 12. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.
    Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA.
    Neurology; 1996 Jan 28; 46(1):214-8. PubMed ID: 8559378
    [Abstract] [Full Text] [Related]

  • 13. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.
    Watanabe M, Abe K, Aoki M, Kameya T, Kaneko J, Shoji M, Ikeda M, Shizuka M, Ikeda Y, Iizuka T, Hirai S, Itoyama Y.
    J Neurol Sci; 1996 Mar 28; 136(1-2):101-7. PubMed ID: 8815156
    [Abstract] [Full Text] [Related]

  • 14. Mutation detection in Machado-Joseph disease using repeat expansion detection.
    Lindblad K, Lunkes A, Maciel P, Stevanin G, Zander C, Klockgether T, Ratzlaff T, Brice A, Rouleau GA, Hudson T, Auburger G, Schalling M.
    Mol Med; 1996 Jan 28; 2(1):77-85. PubMed ID: 8900536
    [Abstract] [Full Text] [Related]

  • 15. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
    Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM.
    Am J Hum Genet; 1997 Apr 28; 60(4):842-50. PubMed ID: 9106530
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  • 18. 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 28; 41(4):505-11. PubMed ID: 9124808
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  • 20. 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 28; 55(3B):519-29. PubMed ID: 9629399
    [Abstract] [Full Text] [Related]

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