The research activity of the Unit is dedicated to the study of rare neuromuscular diseases, in particular muscular dystrophies, congenital myopathies, metabolic myopathies, myofibrillar myopathies, mitochondrial disease, channelopathies, and motor neuron diseases. Our business is targeted to the aetiopathogenetic study, is looking for novel therapeutic approaches for these diseases. The results obtained from the Unit are documented from the large number of scientific publications available in PubMed. The specific scientific expertise allow for years to get funding from foundations both ministerial NPO following the presentation of projects in the field of neuromuscular diseases.

RESEARCH PROJECTS APPROVED IN PUBLIC CONTESTS:

• Telethon 2008-2009: Clinical and laboratory criteria for FSHD diagnosis in view of a national registry for the disease .

• Telethon 2008-2009: Network of Genetic Biobanks.

• Study for FRG1 transgenic mouse ( animal model of human facio scapulohumeral dystrophy ) and mouse “double transgenic ” for FRG1. This study is carried out in collaboration with Prof. Tupler University of Modena .

• Definition of a clinical score of disease severity in patients with Facio Bachelor Humeral Dystrophy .

• retrospective revaluation of muscle biopsies from our bank to highlight myopathies caused by mutations in the gene myosin.

• retrospective revaluation of muscle biopsies from our bank to highlight myopathies caused by mutations in genes that cause “myofibrillar myopathy”.

• Histopathological Study of the animal model knocked out for the gene responsible for severe ETHE -I mitocondriopatia child, in collaboration with the Istituto Besta (Dr. Zeviani).

• retrospective revaluation of muscle biopsies from ALS patients to detect the presence of a deficit of oxidative possible pathogenetic significance.

• Study of the pathogenesis of SCA through the analysis of DNA extracted from the Purkinje cells of the mouse model of the disease.

• Current Research 2009: Alterations of mitochondrial DNA in the pathogenesis of spino cerebellar ataxia type 1 . Study of transgenic animal model of the disease and the effect of antioxidant therapy.

• Current Research 2010: Evaluation of morphological muscle biopsies from patients with Pompe disease receiving therapy with recombinant enzyme .

• Current Research 2011: Analysis of polymorphisms in the region 4q35 associated with facio- scapulohumeral muscular dystrophy (FSHD ) in patients suffering from different types of muscular dystrophy.

• Current Research 2012: Evaluation of the effectiveness of therapy with recombinant enzyme in glycogen storage disease type II.

• Current Research 2013 : Early diagnosis of late-onset Pompe disease .

• Telethon 2011-2012 : Clinical and laboratory criteria for FSHD diagnosis in view of a national registry for the disease .

• Telethon 2013-2017 : Network of Genetic Biobank.