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Journal Abstract Search

158 related items for PubMed ID: 9187683

  • 21.
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  • 22. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
    Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI.
    Hum Mol Genet; 1999 Dec; 8(13):2425-36. PubMed ID: 10556290
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  • 24. Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
    Palau F.
    Int J Mol Med; 2001 Jun; 7(6):581-9. PubMed ID: 11351269
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  • 27. Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
    McCabe DJ, Wood NW, Ryan F, Hanna MG, Connolly S, Moore DP, Redmond J, Barton DE, Murphy RP.
    Arch Neurol; 2002 Feb; 59(2):296-300. PubMed ID: 11843702
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  • 28. Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families.
    Zühlke C, Gehlken U, Purmann S, Kunisch M, Müller-Myhsok B, Kreuz F, Laccone F.
    Hum Hered; 1999 Mar; 49(2):90-6. PubMed ID: 10077729
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  • 29. Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.
    Kellett MW, Fletcher NA, Wood N, Enevoldson TP.
    J Neurol Neurosurg Psychiatry; 1997 Dec; 63(6):780-3. PubMed ID: 9416816
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  • 32. Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.
    Sharma R, De Biase I, Gómez M, Delatycki MB, Ashizawa T, Bidichandani SI.
    Ann Neurol; 2004 Dec; 56(6):898-901. PubMed ID: 15562408
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  • 34. Classical Friedreich's ataxia and its genotype.
    Martin J, Martin L, Löfgren A, D'Hooghe M, Storm K, Balemans W, Palau F, Van Broeckhoven C.
    Eur Neurol; 1999 Dec; 42(2):109-15. PubMed ID: 10473983
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  • 35. Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.
    De Michele G, Filla A, Cavalcanti F, Tammaro A, Monticelli A, Pianese L, Di Salle F, Perreti A, Santoro L, Caruso G, Cocozza S.
    Neurology; 2000 Jan 25; 54(2):496-9. PubMed ID: 10668723
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  • 37. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.
    Sharma R, Bhatti S, Gomez M, Clark RM, Murray C, Ashizawa T, Bidichandani SI.
    Hum Mol Genet; 2002 Sep 01; 11(18):2175-87. PubMed ID: 12189170
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