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Future Science OA|July 10, 2019
The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meetingIan A Blair, Jennifer Farmer, Steven Hersch, et al.Neuronal Signaling|July 28, 2020
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial diseaseElisia Clark, Joseph Johnson, Yi Na Dong, et al.Annals of Clinical and Translational Neurology|June 19, 2023
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxiaLayne N Rodden, Kellie McIntyre, Medina Keita, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|September 29, 2006
Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediatesJoseph R Mazzulli, Amanda J Mishizen, Benoit I Giasson, et al.Journal of the Neurological Sciences|July 4, 2025
The clinical burden of Friedreich ataxia in the United States: A retrospective claims database analysisSusan Perlman, Su Zhang, Juliana Setyawan, et al.Human Molecular Genetics|June 9, 2026
FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distributionMorgan C Devore, Christina Lam, Emily Xiao, et al.Molecular Neurobiology|April 16, 2020
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia PatientsJulia O Misiorek, Anna M Schreiber, Martyna O Urbanek-Trzeciak, et al.Neurology|June 15, 2019
Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxiaBrice Marty, Gilles Naeije, Mathieu Bourguignon, et al.Disease Models & Mechanisms|June 28, 2012
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxiaAlain Martelli, Lisa S Friedman, Laurence Reutenauer, et al.Biochemistry|May 25, 2005
Cleavage of alpha-synuclein by calpain: potential role in degradation of fibrillized and nitrated species of alpha-synucleinAmanda J Mishizen-Eberz, Erin H Norris, Benoit I Giasson, et al.Pageof 24