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Disease Models & Mechanisms|September 15, 2022
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon responseM Grazia Cotticelli, Shujuan Xia, Rachel Truitt, et al.Journal of Applied Genetics|April 29, 2025
Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish familyAdam S Hirschfeld, Julia O Misiorek, Magdalena Dabrowska, et al.Molecular & Cellular Proteomics : MCP|May 15, 2021
Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's AtaxiaJill S Napierala, Kimal Rajapakshe, Amanda Clark, et al.Molecular Therapy. Nucleic Acids|June 9, 2025
Anti-gene oligonucleotides targeting Friedreich's ataxia expanded GAA⋅TTC repeats increase Frataxin expressionNegin Mozafari, Salomé Milagres, Tea Umek, et al.Biorxiv : the Preprint Server for Biology|March 27, 2026
Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysisMarnie L Maddock, Sara Miellet, Anjila Dongol, et al.Molecular Cell|May 13, 2026
Transcription and cohesin direct domain boundary spatial positioning and are linked to Friedreich's ataxiaAshley Karnay, Ricardo Linares-Saldana, Qiaohong Wang, et al.Cell Death & Disease|June 22, 2026
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC modelJarmon G Lees, Haoxiang Zhang, Lebei Jiao, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.Brain : a Journal of Neurology|October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.Pageof 3