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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 <i>FGF14</i> -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.
Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
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