Louise A. Corben

This study uses iPSCs from FRDA patients to model cardiac dysfunction, finding transcriptional dysregulation and phenotypes like increased cell size and mitochondrial stress.

This paper identifies cell-type-specific transcriptional biomarkers in Friedreich ataxia through meta-analysis of bulk RNA-seq datasets and develops an interactive transcriptomic atlas.

This study identifies gait and balance measures responsive to change in Friedreich ataxia over 12 months, finding the FARS USS and BBS most responsive across subgroups, with DGI best for children.

This study tracks iron concentration and atrophy in dentate nuclei of Friedreich ataxia patients over two years, finding increased iron accumulation and stage-dependent changes.