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6. 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; 78(11):626-32. PubMed ID: 11269509 [TBL] [Abstract][Full Text] [Related]
7. Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia. McDaniel DO; Keats B; Vedanarayanan VV; Subramony SH Mov Disord; 2001 Nov; 16(6):1153-8. PubMed ID: 11748752 [TBL] [Abstract][Full Text] [Related]
8. Frataxin gene point mutations in Italian Friedreich ataxia patients. Gellera C; Castellotti B; Mariotti C; Mineri R; Seveso V; Didonato S; Taroni F Neurogenetics; 2007 Nov; 8(4):289-99. PubMed ID: 17703324 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
11. 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 [TBL] [Abstract][Full Text] [Related]
12. Clinical and genetic study of Friedreich ataxia in an Australian population. Delatycki MB; Paris DB; Gardner RJ; Nicholson GA; Nassif N; Storey E; MacMillan JC; Collins V; Williamson R; Forrest SM Am J Med Genet; 1999 Nov; 87(2):168-74. PubMed ID: 10533031 [TBL] [Abstract][Full Text] [Related]
13. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. De Michele G; Cavalcanti F; Criscuolo C; Pianese L; Monticelli A; Filla A; Cocozza S Hum Mol Genet; 1998 Nov; 7(12):1901-6. PubMed ID: 9811933 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
15. Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients. De Castro M; García-Planells J; Monrós E; Cañizares J; Vázquez-Manrique R; Vílchez JJ; Urtasun M; Lucas M; Navarro G; Izquierdo G; Moltó MD; Palau F Hum Genet; 2000 Jan; 106(1):86-92. PubMed ID: 10982187 [TBL] [Abstract][Full Text] [Related]
16. [Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature]. Tanaka H Nihon Rinsho; 1999 Apr; 57(4):960-6. PubMed ID: 10222797 [TBL] [Abstract][Full Text] [Related]
17. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Epplen C; Epplen JT; Frank G; Miterski B; Santos EJ; Schöls L Hum Genet; 1997 Jun; 99(6):834-6. PubMed ID: 9187683 [TBL] [Abstract][Full Text] [Related]
18. 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 [TBL] [Abstract][Full Text] [Related]
19. 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; 11(18):2175-87. PubMed ID: 12189170 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]