Services and laboratories » Unità Operativa Semplice – (U.O.S.) Diagnostica delle Malattie Neuromuscolari » Research activities



The following research projects have been approved after public competitions:

• Telethon project entitled "Alfa- and gamma sarcoglycan deficiency: screening of a large Italian population of myopathic patients". Principal investigator: Prof. A. Prelle.
• Telethon project entitled "Retrospective studies of a large population of patients affected with mitochondrial encephalomyopathies: clinical, morphological and genetic evaluation. Principal investigator: Dr. M. Sciacco.
• Telethon project entitled "Brain energetics under resting and activated conditions in mitochondrial myopathies without clinical signs of central nervous system involvement. Principal investigator: Dr. M. Rango. Collaboration project.
• Hospital National Grant (Ospedale Gaslini, Genoa), 1998 to be used in 1999.
  Project title: " Pathogenic studies and phenotype-genotype correlations in limb-girdle myopathies". Principal investigator: Prof. C. Minetti. Collaboration project.
• Hospital Grant (Ospedale Maggiore, Milan) 1995 to be used in 1998.
  Project title: "Clinical and immunocytochemical study of sarcoglycanopathies". Principal investigator: Prof. M.Moggio.
• Hospital Grant (Ospedale Maggiore, Milan) 1996 to be used in 1999.
  Project title: " Muscle apoptosis in degenerative disorders". Principal investigator: Prof. M.Moggio.
• Hospital Grant (Ospedale Maggiore, Milan) 1997 to be used in 2000.
  Project title: "Biomolecular and clinical characterization of mitochondrial encephalomyopathies lacking known mutations of mitochondrial genome" Principal investigator: Prof. G. P. Comi
• Hospital Grant (Ospedale Maggiore, Milan) 1998 to be used in 2001.
  Retrospective study of a large population of patients affected with asymptomatic or paucisymptomatic hyperckemia. Principal investigator: Prof. M.Moggio.
• Hospital Grant (Ospedale Maggiore, Milan) 1999 to be used in 2002.
  Clinical and immunological correlations in patients with dysferlin deficiency. Principal investigator: Prof. M. Moggio.
• Hospital Grant (Ospedale Maggiore, Milan) 2002. Automated criobank of biological material (Biorepository). Principal investigator: Prof. M. Moggio.
• Hospital Grant (Ospedale Maggiore, Milan) to be used in 2003.
  Genetic characterization of patients affected with dysferlinopathy: immunocytochemical correlations between dysferlin deficiency and the expression of the other proteins of the sarcolemmal membrane. Principal investigator: Prof. M. Moggio.
• Ricerca finalizzata 2002: “Criobanca automatizzata di materiale biologico”.
• Ricerca Corrente 2005: “Alpha-Dystroglycane defects in skeletal muscle and CNS”.
• Eurobiobank Network founded by the E.C. within the fifth framework n° QLTR-2001-March 2006-02769.
• Ricerca Corrente 2006: “Morphological caratterization of FSHD animal model”.
• TELETHON BANK project n.GTF02008.
• Ricerca Corrente 2007: "Pathogenetic Mechanism of Facioscapulohumeral muscular dystrophy (FSHD)".

Research Collaborations ("out samples"):

• Dep. of Neurology, Colombia University, New York, USA, Dr. S.Di Mauro, Dr.E.Bonilla
• Red Cross-Hospital, Athens, Greece, Dr.A.Papadimitriou
• Istituto Neurologico C.Besta, Milano, Dr.Zeviani, D.ssa M.Mora
• Universita' Studi di Messina, Prof.G.Vita, Dr.A.Toscano
• Istituto Gaslini di Genova, Dr.A.Minetti
• Universita' di Pavia Osp. San Matteo, U.O. Genetica Prof. R. Tupler
• Istituto La Nostra Famiglia IRCCS, Bosisio Parini,(LC)
• Clinica Neurologica II, Università di Messina
• Dpt. di Cardiochirurgia, Ospedale Niguarda, Milano
• Children’s Hospital Boston, USA.
• Genethon, Evry France
• Istituto G.Gaslini, Genova, Italy.
• Università di Bari, Italy.
• Istituto di Fisiopatologia Universita' di Pavia, Italy.