Results obtained from diagnostic procedures are often the first step of research tracks aimed to understand the genetic and biochemical features underlining neuromuscular disorders. The final goal is to gain insights into cellular and molecular mechanisms linking genetic defects to the phenotype observed in pediatric and adult onset neurological disorders.

Research activity pursues the following lines of investigations:

– Identification of novel molecular defects trying to establish genotype-phenotype correlation
– Identification of novel genetic determinants using classical approaches and next-generation sequencing techniques
– Comprehension of pathogenetic mechanisms using patients’ tissues and cell models
– Molecular and biochemical characterization of murine mouse models reproducing human neuromuscular disorders

These topics are investigated by neurologists, resident scientists and training students from several academic courses including Medicine, Biology, Biotechnology as well as colleagues from many Italian and international institutions. Lectures and seminars are held by resident or guests researchers, in order to spread the knowledge acquired by our group and by national or international partners.