Federica Pilotto

This study identifies TLR4-mediated neuroimmune signaling as a driver of proprioceptive neuron degeneration in Friedreich ataxia and shows that inhibiting TLR4 reduces disease progression.

This study shows that mGluR5 positive-allosteric modulators correct synaptic and behavioural defects in a CDKL5 deficiency disorder mouse model and human patients.

This study shows CDNF reduces ER stress and improves motor neuron survival in multiple ALS models, independent of genetic cause.