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 Gambineri; Giovanna 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

doi:10.1186/1750-1172-7-37

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 rivista › Articolo 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 originale	English
pagine (da-a)	37-37
Numero di pagine	1
Rivista	Orphanet Journal of Rare Diseases
Volume	7
DOI	https://doi.org/10.1186/1750-1172-7-37
Stato di pubblicazione	Pubblicato - 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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10.1186/1750-1172-7-37

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Mercuri, E. M., Scarano, E., Bertini, E. S., Carboni, N., D'Amico, A., Novelli, G., Benedetti, S., Bernasconi, P., Bertini, E., Biagini, E., Boriani, G., Capanni, C., Carboni, N., Cenacchi, G., Columbaro, M., D'Adamo, M., Damico, A., Dapice, M. R., Fontana, M., ... Ziacchi, M. (2012). The empowerment of translational research: lessons from laminopathies. Orphanet Journal of Rare Diseases, 7, 37-37. https://doi.org/10.1186/1750-1172-7-37

Mercuri, Eugenio Maria ; Scarano, Emanuele ; Bertini, Enrico Silvio ; Carboni, Nicoletta ; D'Amico, Adele ; Novelli, Giada ; Benedetti, Sara ; Bernasconi, Pia ; Bertini, Enrico ; Biagini, Elena ; Boriani, Giuseppe ; Capanni, Cristina ; Carboni, Nicola ; Cenacchi, Giovanna ; Columbaro, Marta ; D'Adamo, Monica ; Damico, Adele ; Dapice, Maria Rosaria ; Fontana, Marianna ; Gambineri, Alessandra ; Lattanzi, Giovanna ; Liguori, Rocco ; Maraldi, Nadir M ; Mazzanti, Laura ; Mongini, Tiziana ; Morandi, Lucia O ; Neri, Iria ; Nigro, Giovanni ; Novelli, Giuseppe ; Ortolani, Michela ; Pasquali, Renato ; Pini, Antonella ; Petrini, Stefania ; Politano, Luisa ; Previtali, Stefano ; Pucci, Lisa ; Rapezzi, Claudio ; Ricci, Giulia ; Rodolico, Carmelo ; Sbraccia, Paolo ; Scarano, Emanuela ; Siciliano, Gabriele ; Squarzoni, Stefano ; Toscano, Antonio ; Vercelli, Liliana ; Ziacchi, Matteo. / The empowerment of translational research: lessons from laminopathies. In: Orphanet Journal of Rare Diseases. 2012 ; Vol. 7. pagg. 37-37.

@article{eae37e446aee489e87e301eaaf664147,

title = "The empowerment of translational research: lessons from laminopathies",

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.",

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

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

year = "2012",

doi = "10.1186/1750-1172-7-37",

language = "English",

volume = "7",

pages = "37--37",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "London : BioMed Central",

}

Mercuri, EM , Scarano, E, Bertini, ES, Carboni, N, D'Amico, A, Novelli, G, Benedetti, S, Bernasconi, P, Bertini, E, Biagini, E, Boriani, G, Capanni, C, Carboni, N, Cenacchi, G, Columbaro, M, D'Adamo, M, Damico, A, Dapice, MR, Fontana, M, Gambineri, A, Lattanzi, G, Liguori, R, Maraldi, NM, Mazzanti, L, 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 2012, 'The empowerment of translational research: lessons from laminopathies', Orphanet Journal of Rare Diseases, vol. 7, pagg. 37-37. https://doi.org/10.1186/1750-1172-7-37

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

In: Orphanet Journal of Rare Diseases, Vol. 7, 2012, pag. 37-37.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - The empowerment of translational research: lessons from laminopathies

AU - Mercuri, Eugenio Maria

AU - Scarano, Emanuele

AU - Bertini, Enrico Silvio

AU - Carboni, Nicoletta

AU - D'Amico, Adele

AU - Novelli, Giada

AU - Benedetti, Sara

AU - Bernasconi, Pia

AU - Bertini, Enrico

AU - Biagini, Elena

AU - Boriani, Giuseppe

AU - Capanni, Cristina

AU - Carboni, Nicola

AU - Cenacchi, Giovanna

AU - Columbaro, Marta

AU - D'Adamo, Monica

AU - Damico, 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 - Mongini, Tiziana

AU - Morandi, Lucia O

AU - Neri, Iria

AU - Nigro, Giovanni

AU - Novelli, Giuseppe

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 - 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

VL - 7

SP - 37

EP - 37

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

ER -

The empowerment of translational research: lessons from laminopathies

Abstract

Keywords

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