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Scientific Reports|March 24, 2022
DNA methylation in Friedreich ataxia silences expression of frataxin isoform ELayne N Rodden, Kaitlyn M Gilliam, Christina Lam, et al.Journal of Neurochemistry|July 31, 2003
Distinct cleavage patterns of normal and pathologic forms of alpha-synuclein by calpain I in vitroAmanda J Mishizen-Eberz, Rodney P Guttmann, Benoit I Giasson, et al.Human Molecular Genetics|September 25, 2015
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locusYanjie Li, Yue Lu, Urszula Polak, et al.Brain : a Journal of Neurology|February 1, 2013
Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient databaseGünther Metz, Nicholas Coppard, Jonathon M Cooper, et al.Mabs|February 23, 2019
Capture and display of antibodies secreted by hybridoma cells enables fluorescent on-cell screeningRama Devudu Puligedda, Rashmi Sharma, Fetweh H Al-Saleem, et al.Neurology. Genetics|August 2, 2018
Longitudinal analysis of contrast acuity in Friedreich ataxiaAli G Hamedani, Lauren A Hauser, Susan Perlman, et al.Nucleic Acids Research|October 31, 2021
Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expressionYanjie Li, Jixue Li, Jun Wang, et al.The Lancet. Neurology|June 20, 2025
Friedreich's ataxia-a rare multisystem diseaseKathrin Reetz, Stella A Lischewski, Imis Dogan, et al.Journal of Lipid Research|July 19, 2022
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxiaDezhen Wang, Elaine S Ho, M Grazia Cotticelli, et al.Human Molecular Genetics|January 12, 2021
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxiaLayne N Rodden, Yogesh K Chutake, Kaitlyn Gilliam, et al.Pageof 24