Neuromuscular Diseases

Head of Research Unit
Enrico Silvio Bertini

The Research Unit deals with the development of translational medicine in the field of neuromuscular and neurodegenerative diseases, in order to define new phenotypes and identify new disease genes.

It also deals with innovating protocols for the functional evaluation of progressive diseases, and with developing algorithms capable of integrating the clinical, neuroradiological, myopathological, enzymatic and genetic diagnosis of the rare diseases of interest, also in order to define their natural history. Finally, the Unit has an active participation in observational or therapeutic clinical trials.