Data di Pubblicazione:
2012
Citazione:
The empowerment of translational research: lessons from laminopathies / Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, Giuseppe; Capanni, C; Carboni, N; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; Mongini, T; Morandi, Lo; Neri, I; Nigro, G; Novelli, G; Ortolani, M; Pasquali, R; Pini, A; Petrini, S; Politano, L; Previtali, S; Pucci, L; Rapezzi, C; Ricci, G; Rodolico, C; Sbraccia, P; Scarano, E; Siciliano, G; Squarzoni, S; Toscano, A; Vercelli, L; Ziacchi, M.. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 7:1(2012), pp. 37.37-37.39. [10.1186/1750-1172-7-37]
Abstract:
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
Tipologia CRIS:
Articolo su rivista
Keywords:
Laminopathies; Emery-Dreifuss Muscular Dystrophy; Dilated Cardiomyopathy with Conduction Defects; Mandibuloacral Dysplasia; Familial Partial Lipodystrophy Type 2; Hutchinson-Gilford Progeria Syndrome; Networking activity; interdisciplinary approach to diseases; RARE DISEASES
Elenco autori:
Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, Giuseppe; Capanni, C; Carboni, N; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; Mongini, T; Morandi, Lo; Neri, I; Nigro, G; Novelli, G; Ortolani, M; Pasquali, R; Pini, A; Petrini, S; Politano, L; Previtali, S; Pucci, L; Rapezzi, C; Ricci, G; Rodolico, C; Sbraccia, P; Scarano, E; Siciliano, G; Squarzoni, S; Toscano, A; Vercelli, L; Ziacchi, M.
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