Fiore Manganelli

This study establishes an in vitro model of SORD deficiency using iPSCs and identifies mitochondrial dysfunction and oxidative stress as key mechanisms, suggesting AR inhibition as a therapeutic target for CMT2/SORD and diabetic neuropathies.

This study investigates how the Rab7V162M mutation in CMT2B affects mitochondrial morphology and function in fibroblasts and neurons, showing mitochondrial fragmentation and dysregulated movement.

This study examines the relationship between high-frequency oscillations in the sensory and motor hand areas and regional myelin content in the human sensorimotor cortex.