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The empowerment of translational research: lessons from laminopathies

Academic Article
Publication Date:
2012
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.
Iris type:
14.a.1 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; Rare Diseases; Networking activity; interdisciplinary approach to diseases
List of contributors:
Benedetti, S.; Bernasconi, P.; Bertini, E.; Biagini, E.; Boriani, G.; Capanni, C.; Carboni, N.; Cenacchi, G.; Columbaro, M.; D'Adamo, M.; D'Amico, A.; D'Apice, M.; ., . R; Fontana, M.; Gambineri, A.; Lattanzi, G.; Liguori, R.; Maraldi, N. M; Mazzanti, L.; Mercuri, E.; Mongini, T.; Morandi, L. O.; 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, Carmelo; Sbraccia, P.; Scarano, E.; Siciliano, G.; Squarzoni, S.; Toscano, Antonio; Vercelli, L.; Ziacchi, M.
Authors of the University:
RODOLICO Carmelo
TOSCANO Antonio
Handle:
https://iris.unime.it/handle/11570/2458022
Published in:
ORPHANET JOURNAL OF RARE DISEASES
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http://www.ojrd.com/content/7/1/37
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