TY - JOUR
T1 - The empowerment of translational research: lessons from laminopathies
AU - Benedetti, Sara
AU - Bernasconi, Pia
AU - Bertini, Enrico
AU - Bertini, Enrico Silvio
AU - Biagini, Elena
AU - Boriani, Giuseppe
AU - Capanni, Cristina
AU - Carboni, Nicola
AU - Carboni, Nicoletta
AU - Cenacchi, Giovanna
AU - Columbaro, Marta
AU - D'Adamo, Monica
AU - Damico, Adele
AU - D'Amico, Adele
AU - Dapice, Maria Rosaria
AU - Fontana, Marianna
AU - Gambineri, Alessandra
AU - Lattanzi, Giovanna
AU - Liguori, Rocco
AU - Maraldi, Nadir M
AU - Mazzanti, Laura
AU - Mercuri, Eugenio Maria
AU - Mongini, Tiziana
AU - Morandi, Lucia O
AU - Neri, Iria
AU - Nigro, Giovanni
AU - Novelli, Giuseppe
AU - Novelli, Giada
AU - Ortolani, Michela
AU - Pasquali, Renato
AU - Pini, Antonella
AU - Petrini, Stefania
AU - Politano, Luisa
AU - Previtali, Stefano
AU - Pucci, Lisa
AU - Rapezzi, Claudio
AU - Ricci, Giulia
AU - Rodolico, Carmelo
AU - Sbraccia, Paolo
AU - Scarano, Emanuela
AU - Scarano, Emanuele
AU - Siciliano, Gabriele
AU - Squarzoni, Stefano
AU - Toscano, Antonio
AU - Vercelli, Liliana
AU - Ziacchi, Matteo
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Genetic Diseases, Inborn
KW - Humans
KW - Interdisciplinary Communication
KW - Lamins
KW - Lipodystrophy
KW - Muscular Dystrophy, Emery-Dreifuss
KW - Nuclear Envelope
KW - Progeria
KW - Rare Diseases
KW - Translational Medical Research
KW - Genetic Diseases, Inborn
KW - Humans
KW - Interdisciplinary Communication
KW - Lamins
KW - Lipodystrophy
KW - Muscular Dystrophy, Emery-Dreifuss
KW - Nuclear Envelope
KW - Progeria
KW - Rare Diseases
KW - Translational Medical Research
UR - http://hdl.handle.net/10807/41309
U2 - 10.1186/1750-1172-7-37
DO - 10.1186/1750-1172-7-37
M3 - Article
SN - 1750-1172
VL - 7
SP - 37
EP - 37
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
ER -