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Biol. Chem."},{"issue":"2","key":"10.1016\/j.dnarep.2022.103385_bib176","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0056960","article-title":"Instability of CTG repeats is governed by the position of a DNA base lesion through base excision repair","volume":"8","author":"Lai","year":"2013","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.dnarep.2022.103385_bib177","doi-asserted-by":"crossref","DOI":"10.3390\/biom10050702","article-title":"Oxidative stress in DNA repeat expansion disorders: a focus on NRF2 signaling involvement","volume":"10","author":"La Rosa","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.dnarep.2022.103385_bib178","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.redox.2018.01.008","article-title":"13 reasons why the brain is susceptible to oxidative stress","volume":"15","author":"Cobley","year":"2018","journal-title":"Redox Biol."},{"issue":"5","key":"10.1016\/j.dnarep.2022.103385_bib179","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1002\/1873-3468.12928","article-title":"The role of oxidative stress in Friedreich\u2019s ataxia","volume":"592","author":"Lupoli","year":"2018","journal-title":"FEBS Lett."},{"issue":"1","key":"10.1016\/j.dnarep.2022.103385_bib180","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001270","article-title":"Friedreich\u2019s ataxia (GAA)n\u2022(TTC)n repeats strongly stimulate mitotic crossovers in Saccharomyces cerevisae","volume":"7","author":"Tang","year":"2011","journal-title":"PLoS Genet."},{"issue":"8","key":"10.1016\/j.dnarep.2022.103385_bib181","doi-asserted-by":"crossref","first-page":"6444","DOI":"10.1074\/jbc.M309596200","article-title":"Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich\u2019s ataxia gene","volume":"279","author":"Napierala","year":"2004","journal-title":"J. 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