In the first phase of my clinical research I have been interested in the study of the natural history and rehabilitation of Duchenne muscular dystrophy, spinal muscular atrophy. I have promoted rehabilitation with callipers both in DMD (Neuromuscul Disord 1994:87-88) and in SMA (Dev Med Child Neurol 1987:221-224), orthopaedic and surgical treatment of scoliosis in DMD (Neuromuscul Disord 1996:61-68) and SMA (Spine 1989:760-762; Neuromuscul Disord 1993:207-215; Dev Med Child Neurol 1989:501-508). Muscle strength testing in neuromuscular disorders has been also the source of interest (J Orthop Sports Phys Ther 1995:73-76; Muscle Nerve 2002:64-70). I have actively been involved in the great European search of the genes responsible of hereditary neuromuscular disorders. My clinical research efforts have been instrumental in the discovery of 11 gene-causing disorders: Limb girdle muscular dystrophy 2D, autosomal dominant Emery-Dreifuss muscular dystrophy; autosomal recessive EDMD, POMT1 Walker-Warburg congenital muscular dystrophy; congenital muscular dystrophy (MDC1D); mandibulo-acral dysplasia; Ullrich congenital muscular dystrophy; congenital muscular dystrophy with spine rigidity and restrictive respiratory syndrome RSMD1; Marinesco-Sjogren/myoglobinuria /CCFDN congenital cataract facial dysmorphism neuropathy, Silver syndrome, POMT2 - Walker-Warburg congenital muscular dystrophy, and Myosclerosis Myopathy. I have been the scientific coordinator of the EU funded project “Myocluster” (2000-2003). I have promoted the first pilot study of early treatment with steroids in DMD patients (Muscle Nerve 2003:222-227) and the first multicentre trial in SMA, called Italian SMART (J Child Neurol 2003:537-541). I organized a pilot trial with CsA in patients with Col6-related myopathies (Proc Natl Acad Sci U S A 2008:5225-5229).
Biography Updated on 7 September 2013