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Journal Abstract Search

554 related items for PubMed ID: 16644517

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  • 2. Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.
    Chattopadhyay B, Gupta S, Gangopadhyay PK, Das SK, Roy T, Mukherjee SC, Sinha KK, Singhal BS, Bhattacharyya NP.
    Ann Hum Genet; 2004 May; 68(Pt 3):189-95. PubMed ID: 15180699
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  • 5. [Unusual molecular changes in two families with Friedreich's ataxia].
    González MC, Díaz-Golpe V, Hernández L, Martin S, Fernández F.
    Neurologia; 2003 Sep; 18(7):392-5. PubMed ID: 14505249
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  • 7. Exonic deletions of FXN and early-onset Friedreich ataxia.
    Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M.
    Arch Neurol; 2012 Jul; 69(7):912-6. PubMed ID: 22409940
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  • 10. Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
    Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, Lynch DR.
    Mov Disord; 2008 Jul 15; 23(9):1303-6. PubMed ID: 18464277
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  • 11. 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 15; 45(12):808-12. PubMed ID: 18697824
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  • 14. Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
    Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E.
    Eur J Hum Genet; 2004 Nov 15; 12(11):979-82. PubMed ID: 15340363
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  • 20. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
    Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ.
    J Mol Med (Berl); 2001 Nov 15; 78(11):626-32. PubMed ID: 11269509
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