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Frontiers in Neuroscience|December 13, 2021
Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN ReactivationLayne N Rodden, Kaitlyn M Gilliam, Christina Lam, et al.Genomics|December 1, 2005
Expansion of GAA trinucleotide repeats in mammalsRhonda M Clark, Sanjeev S Bhaskar, Masaki Miyahara, et al.Nucleic Acids Research|February 21, 2016
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitorYogesh K Chutake, Christina C Lam, Whitney N Costello, et al.Genomics|February 14, 2004
Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an AluRhonda M Clark, Gillian L Dalgliesh, Dan Endres, et al.Annals of Neurology|November 25, 2004
Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat allelesRajesh Sharma, Irene De Biase, Mariluz Gómez, et al.Nucleic Acids Research|December 5, 2006
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeatsPaul M Rindler, Rhonda M Clark, Laura M Pollard, et al.Human Molecular Genetics|December 23, 2025
Unrecognized high prevalence of expanded composite repeats in Friedreich ataxiaMorgan C Devore, Christina Lam, Graham Wiley, et al.Human Molecular Genetics|August 22, 2002
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractionsRajesh Sharma, Saeeda Bhatti, Mariluz Gomez, et al.Genomics|May 15, 2007
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout lifeIrene De Biase, Astrid Rasmussen, Antonella Monticelli, et al.Human Genetics|October 7, 2006
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse modelRhonda M Clark, Irene De Biase, Anna P Malykhina, et al.Pageof 4