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Journal Abstract Search

1024 related items for PubMed ID: 7611728

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
    Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.
    Arch Neurol; 2004 Feb; 61(2):209-12. PubMed ID: 14967767
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.
    Subramony SH, Fratkin JD, Manyam BV, Currier RD.
    Mov Disord; 1996 Mar; 11(2):174-80. PubMed ID: 8684388
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.
    Paulson HL.
    Semin Neurol; 2007 Apr; 27(2):133-42. PubMed ID: 17390258
    [Abstract] [Full Text] [Related]

  • 13. Machado-Joseph disease.
    Sudarsky L, Coutinho P.
    Clin Neurosci; 1995 Apr; 3(1):17-22. PubMed ID: 7614089
    [Abstract] [Full Text] [Related]

  • 14. Molecular genetics of hereditary ataxias.
    Banfi S, Zoghbi HY.
    Baillieres Clin Neurol; 1994 Aug; 3(2):281-95. PubMed ID: 7952848
    [Abstract] [Full Text] [Related]

  • 15. [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]

  • 16. 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]

  • 17. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.
    Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A.
    Ann Neurol; 1995 Feb; 37(2):176-80. PubMed ID: 7847859
    [Abstract] [Full Text] [Related]

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

  • 19. [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]

  • 20. [Spinocerebellar ataxia: advances in genetic research and its clinical implication].
    Sasaki H.
    Hokkaido Igaku Zasshi; 1997 Jan; 72(1):13-20. PubMed ID: 9086358
    [Abstract] [Full Text] [Related]

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