My research and clinical activities are dedicated to the study and identification of treatments for patients with neuromuscular disorders- These aims rely on the identification of molecular mechanisms as well as on developing novel ways and tools of treatment for these disorders. In this regard, I contributed to the identification of causative genes/mutations of mitochondrial encephalomyopathies, a glycolysis defect, limb girdle muscular dystrophies and familial ALS forms. I have performed many pre-clinical studies to develop potential molecular and cellular treatment strategies for these conditions. Further, I have conducted several human clinical trials (in particular in Spinal Muscular Atrophy, Duchenne and Becker Muscular Dystrophy patients) to evaluate the safety and effectiveness of therapies in national and international trials. I am in charge of the activity of biochemical and genetic diagnostics at the Laboratory of Biochemistry and Genetics, University of Milan. I am the Supervisor of neuromuscular and motor neuron out-patients service at the IRCCS Foundation Ca’ Granda Hospital. I taught in many courses of the University of Milan to MD and PhD students, neurology residents and I have mentored several research fellows. I currently have Research grants from the Italian Ministry of Health, and several others research grants obtained through a competitive peer-reviewed international process to conduct basic and clinical research for neuromuscular diseases, including an Italian Telethon grant for Glycogen Storage Disease type III. Taken together, my research efforts constitute a comprehensive program to translate basic science breakthroughs into effective treatments for patients with neurodegenerative and neuromuscular disease.