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Journal Abstract Search

310 related items for PubMed ID: 9153531

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  • 26. 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; 42(2):109-15. PubMed ID: 10473983
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  • 27. Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
    Xunclà M, Rodríguez-Revenga L, Madrigal I, Jiménez D, Milà M, Badenas C.
    Transl Res; 2010 Nov; 156(5):309-14. PubMed ID: 20970754
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  • 29. Molecular and clinical investigation of Iranian patients with Friedreich ataxia.
    Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E.
    Iran Biomed J; 2014 Nov; 18(1):28-33. PubMed ID: 24375160
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  • 30. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.
    Geschwind DH, Perlman S, Grody WW, Telatar M, Montermini L, Pandolfo M, Gatti RA.
    Neurology; 1997 Oct; 49(4):1004-9. PubMed ID: 9339680
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  • 33. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
    Bartolo C, Mendell JR, Prior TW.
    Am J Med Genet; 1998 Oct 12; 79(5):396-9. PubMed ID: 9779809
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  • 34. Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.
    Du J, Campau E, Soragni E, Ku S, Puckett JW, Dervan PB, Gottesfeld JM.
    J Biol Chem; 2012 Aug 24; 287(35):29861-72. PubMed ID: 22798143
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  • 37. Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
    Hellenbroich Y, Schwinger E, Zühlke C.
    Acta Neurol Scand; 2001 Mar 24; 103(3):188-92. PubMed ID: 11240567
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  • 38. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.
    Fussiger H, Saraiva-Pereira ML, Leistner-Segal S, Jardim LB.
    Cerebellum; 2019 Feb 24; 18(1):147-151. PubMed ID: 29938355
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  • 40. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
    Saccà F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, Sorrentino P, Pane C, Tessa A, Brescia Morra V, Cocozza S, De Michele G, Santorelli FM, Filla A.
    PLoS One; 2011 Mar 11; 6(3):e17627. PubMed ID: 21412413
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