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2. Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations. Pandolfo M Methods Mol Med; 2006; 126():197-216. PubMed ID: 16930014 [TBL] [Abstract][Full Text] [Related]
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7. Targeting the gene in Friedreich ataxia. Hebert MD Biochimie; 2008 Aug; 90(8):1131-9. PubMed ID: 18206656 [TBL] [Abstract][Full Text] [Related]
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9. Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. Holloway TP; Rowley SM; Delatycki MB; Sarsero JP Biotechniques; 2011 Mar; 50(3):182-6. PubMed ID: 21486239 [TBL] [Abstract][Full Text] [Related]
10. [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 [TBL] [Abstract][Full Text] [Related]
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12. 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; 23(9):1303-6. PubMed ID: 18464277 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
16. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Zhu D; Burke C; Leslie A; Nicholson GA Mov Disord; 2002 May; 17(3):585-9. PubMed ID: 12112211 [TBL] [Abstract][Full Text] [Related]
17. 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; 45(12):808-12. PubMed ID: 18697824 [TBL] [Abstract][Full Text] [Related]
18. [Friedrich's ataxia: clinical difficulties and genetic possibilities]. van de Warrenburg BP; Knoers NV; Kremer HP Ned Tijdschr Geneeskd; 2002 Sep; 146(36):1669-72. PubMed ID: 12244768 [TBL] [Abstract][Full Text] [Related]
19. Friedreich's ataxia: clinical aspects and pathogenesis. Pandolfo M Semin Neurol; 1999; 19(3):311-21. PubMed ID: 12194387 [TBL] [Abstract][Full Text] [Related]
20. Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. Lamba LD; Ciotti P; Giribaldi G; Di Maria E; Varese A; Di Stadio M; Schenone A; Mandich P; Bellone E Eur Neurol; 2009; 61(4):240-3. PubMed ID: 19182486 [No Abstract] [Full Text] [Related] [Next] [New Search]