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Journal Abstract Search

214 related items for PubMed ID: 12490531

  • 1. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.
    Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR.
    Hum Mol Genet; 2003 Jan 01; 12(1):41-50. PubMed ID: 12490531
    [Abstract] [Full Text] [Related]

  • 2. A SCA7 CAG/CTG repeat expansion is stable in Drosophila melanogaster despite modulation of genomic context and gene dosage.
    Jackson SM, Whitworth AJ, Greene JC, Libby RT, Baccam SL, Pallanck LJ, La Spada AR.
    Gene; 2005 Feb 28; 347(1):35-41. PubMed ID: 15715978
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  • 3. Spinocerebellar ataxia 7 (SCA7).
    Lebre AS, Brice A.
    Cytogenet Genome Res; 2003 Feb 28; 100(1-4):154-63. PubMed ID: 14526176
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  • 4. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
    Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ.
    Hum Mol Genet; 1998 Mar 28; 7(3):525-32. PubMed ID: 9467013
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  • 5. An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
    Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M.
    Genome Res; 1996 Oct 28; 6(10):965-71. PubMed ID: 8908515
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  • 6. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
    David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A.
    Hum Mol Genet; 1998 Feb 28; 7(2):165-70. PubMed ID: 9425222
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  • 11. [Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene].
    Igarashi S, Tsuji S.
    Nihon Rinsho; 1999 Apr 28; 57(4):811-7. PubMed ID: 10222771
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  • 12. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.
    Garden GA, La Spada AR.
    Cerebellum; 2008 Apr 28; 7(2):138-49. PubMed ID: 18418675
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  • 13. Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.
    Martin J, Van Regemorter N, Del-Favero J, Löfgren A, Van Broeckhoven C.
    J Neurol Sci; 1999 Sep 15; 168(1):37-46. PubMed ID: 10500272
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  • 14. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
    Del-Favero J, Krols L, Michalik A, Theuns J, Löfgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C.
    Hum Mol Genet; 1998 Feb 15; 7(2):177-86. PubMed ID: 9425224
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  • 18. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.
    Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, Axford MM, Cleary JD, Moore JM, Sopher BL, Tapscott SJ, Filippova GN, Pearson CE, La Spada AR.
    PLoS Genet; 2008 Nov 15; 4(11):e1000257. PubMed ID: 19008940
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  • 19. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.
    Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, Hofmann-Radvanyi H, Junien C, Gourdon G.
    Hum Mol Genet; 2000 May 01; 9(8):1185-94. PubMed ID: 10767343
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  • 20. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot.
    Hsieh M, Lin SJ, Chen JF, Lin HM, Hsiao KM, Li SY, Li C, Tsai CJ.
    J Neurol; 2000 Aug 01; 247(8):623-9. PubMed ID: 11041330
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