The empowerment of translational research: lessons from laminopathies

Eugenio Maria Mercuri, Emanuele Scarano, Enrico Silvio Bertini, Nicoletta Carboni, Adele D'Amico, Giada Novelli, Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele Damico, Maria Rosaria Dapice, Marianna Fontana, Alessandra GambineriGiovanna Lattanzi, Rocco Liguori, Nadir M Maraldi, Laura Mazzanti, Tiziana Mongini, Lucia O Morandi, Iria Neri, Giovanni Nigro, Giuseppe Novelli, Michela Ortolani, Renato Pasquali, Antonella Pini, Stefania Petrini, Luisa Politano, Stefano Previtali, Lisa Pucci, Claudio Rapezzi, Giulia Ricci, Carmelo Rodolico, Paolo Sbraccia, Emanuela Scarano, Gabriele Siciliano, Stefano Squarzoni, Antonio Toscano, Liliana Vercelli, Matteo Ziacchi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)37-37
Numero di pagine1
RivistaOrphanet Journal of Rare Diseases
Volume7
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Genetic Diseases, Inborn
  • Humans
  • Interdisciplinary Communication
  • Lamins
  • Lipodystrophy
  • Muscular Dystrophy, Emery-Dreifuss
  • Nuclear Envelope
  • Progeria
  • Rare Diseases
  • Translational Medical Research

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