David R. Lynch

This study shows that ketosis increases frataxin levels and improves disease symptoms in a Friedreich ataxia mouse model.

This study identifies TUG1 as a blood-based biomarker for Friedreich's ataxia, showing its downregulation in patients and correlation with disease severity.

This study investigates cardiac dysfunction in Friedreich's Ataxia by analyzing calcium handling proteins and mitochondrial function in both mouse models and human samples, finding reduced expression of key proteins and mitochondrial abnormalities.