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Page 1
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: napierala m. Brain. 2024 Oct 8:awae312. doi: 10.1093/brain/awae312. Online ahead of print. Brain. 2024. PMID: 39378335
Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR, Napierala M. Long A, et al. Among authors: napierala m, napierala js. PLoS One. 2017 Dec 19;12(12):e0189990. doi: 10.1371/journal.pone.0189990. eCollection 2017. PLoS One. 2017. PMID: 29261783 Free PMC article.
Therapeutic Prospects for Friedreich's Ataxia.
Zhang S, Napierala M, Napierala JS. Zhang S, et al. Among authors: napierala m, napierala js. Trends Pharmacol Sci. 2019 Apr;40(4):229-233. doi: 10.1016/j.tips.2019.02.001. Trends Pharmacol Sci. 2019. PMID: 30905359 Free PMC article. Review.
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
McMackin MZ, Durbin-Johnson B, Napierala M, Napierala JS, Ruiz L, Napoli E, Perlman S, Giulivi C, Cortopassi GA. McMackin MZ, et al. Among authors: napierala m, napierala js. PLoS One. 2019 Oct 30;14(10):e0223209. doi: 10.1371/journal.pone.0223209. eCollection 2019. PLoS One. 2019. PMID: 31665133 Free PMC article.
210 results