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Journal Abstract Search

116 related items for PubMed ID: 10543403

  • 41. Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients.
    Dutka DP, Donnelly JE, Palka P, Lange A, Nunez DJ, Nihoyannopoulos P.
    Circulation; 2000 Sep 12; 102(11):1276-82. PubMed ID: 10982543
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  • 42. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
    Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M.
    Ann Neurol; 1999 Feb 12; 45(2):200-6. PubMed ID: 9989622
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  • 43. 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 Feb 12; 42(2):109-15. PubMed ID: 10473983
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  • 44. Friedreich's ataxia: clinical aspects and pathogenesis.
    Pandolfo M.
    Semin Neurol; 1999 Feb 12; 19(3):311-21. PubMed ID: 12194387
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  • 49. Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.
    Clark RM, Dalgliesh GL, Endres D, Gomez M, Taylor J, Bidichandani SI.
    Genomics; 2004 Mar 12; 83(3):373-83. PubMed ID: 14962663
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  • 51. Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
    Palau F.
    Int J Mol Med; 2001 Jun 12; 7(6):581-9. PubMed ID: 11351269
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  • 53. Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
    Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, Monticelli A, Criscuolo C, Filla A, Cocozza S.
    J Neurol Neurosurg Psychiatry; 2004 Jul 12; 75(7):1061-3. PubMed ID: 15201375
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  • 56. Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.
    Sarsero JP, Li L, Holloway TP, Voullaire L, Gazeas S, Fowler KJ, Kirby DM, Thorburn DR, Galle A, Cheema S, Koenig M, Williamson R, Ioannou PA.
    Mamm Genome; 2004 May 12; 15(5):370-82. PubMed ID: 15170226
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  • 57. Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.
    Gerhardt J, Bhalla AD, Butler JS, Puckett JW, Dervan PB, Rosenwaks Z, Napierala M.
    Cell Rep; 2016 Aug 02; 16(5):1218-1227. PubMed ID: 27425605
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  • 58. Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
    Evans-Galea MV, Lockhart PJ, Galea CA, Hannan AJ, Delatycki MB.
    Discov Med; 2014 Jan 02; 17(91):25-35. PubMed ID: 24411698
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  • 59. 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 02; 56(6):898-901. PubMed ID: 15562408
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  • 60. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
    Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S.
    J Med Genet; 2008 Dec 02; 45(12):808-12. PubMed ID: 18697824
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