The empowerment of translational research: lessons from laminopathies

Sara Benedetti; P Bernasconi; Enrico Silvio Bertini; E Biagini; G Boriani; C Capanni; Nicoletta Carboni; G Cenacchi; M Columbaro; M D'Adamo; Adele D'Amico; D'Apice; M Fontana; A Gambineri; G Lattanzi; R Liguori; Nm Maraldi; L Mazzanti; Eugenio Maria Mercuri; T Mongini; Laura Morandi; I Neri; G Nigro; Giada Novelli; M Ortolani; R Pasquali; A Pini; S Petrini; L Politano; S Previtali; L Pucci; C Rapezzi; Giuseppe Ricci; C Rodolico; P Sbraccia; Emanuele Scarano; Giacinto Siciliano; S Squarzoni; A Toscano; L Vercelli; M. Ziacchi

doi:10.1186/1750-1172-7-37

The empowerment of translational research: lessons from laminopathies

Sara Benedetti
, P Bernasconi
, Enrico Silvio Bertini
, E Biagini
, G Boriani
, C Capanni
, Nicoletta Carboni
, G Cenacchi
, M Columbaro
, M D'Adamo
, Adele D'Amico
, D'Apice
, M Fontana
, A Gambineri
, G Lattanzi^*
, R Liguori
, Nm Maraldi
, L Mazzanti
, Eugenio Maria Mercuri
, T Mongini

Laura Morandi, I Neri, G Nigro, Giada Novelli, M Ortolani, R Pasquali, A Pini, S Petrini, L Politano, S Previtali, L Pucci, C Rapezzi, Giuseppe Ricci, C Rodolico, P Sbraccia, Emanuele Scarano, Giacinto Siciliano, S Squarzoni, A Toscano, L Vercelli, M. Ziacchi

^*Autore corrispondente per questo lavoro

IRCCS San Raffaele Scientific Institute
IRCCS Ospedale pediatrico Bambino Gesù - Roma

Risultato della ricerca: Contributo in rivista › Articolo

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	Inglese
pagine (da-a)	37-37
Numero di pagine	1
Rivista	Orphanet Journal of Rare Diseases
Volume	7
Numero di pubblicazione	Giugno
DOI	https://doi.org/10.1186/1750-1172-7-37
Stato di pubblicazione	Pubblicato - 2012

All Science Journal Classification (ASJC) codes

Genetica (clinica)
Farmacologia (medica)

Keywords

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

Accesso al documento

10.1186/1750-1172-7-37

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

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

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

language = "English",

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pages = "37--37",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

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Benedetti, S, Bernasconi, P, Bertini, ES, Biagini, E, Boriani, G, Capanni, C, Carboni, N, Cenacchi, G, Columbaro, M, D'Adamo, M, D'Amico, A, D'Apice, Fontana, M, Gambineri, A, Lattanzi, G, Liguori, R, Maraldi, N, Mazzanti, L, Mercuri, EM, Mongini, T, Morandi, L, 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, n. Giugno, pagg. 37-37. https://doi.org/10.1186/1750-1172-7-37

TY - JOUR

T1 - The empowerment of translational research: lessons from laminopathies

AU - Benedetti, Sara

AU - Bernasconi, P

AU - Bertini, Enrico Silvio

AU - Biagini, E

AU - Boriani, G

AU - Capanni, C

AU - Carboni, Nicoletta

AU - Cenacchi, G

AU - Columbaro, M

AU - D'Adamo, M

AU - D'Amico, Adele

AU - D'Apice,

AU - Fontana, M

AU - Gambineri, A

AU - Lattanzi, G

AU - Liguori, R

AU - Maraldi, Nm

AU - Mazzanti, L

AU - Mercuri, Eugenio Maria

AU - Mongini, T

AU - Morandi, Laura

AU - Neri, I

AU - Nigro, G

AU - Novelli, Giada

AU - Ortolani, M

AU - Pasquali, R

AU - Pini, A

AU - Petrini, S

AU - Politano, L

AU - Previtali, S

AU - Pucci, L

AU - Rapezzi, C

AU - Ricci, Giuseppe

AU - Rodolico, C

AU - Sbraccia, P

AU - Scarano, Emanuele

AU - Siciliano, Giacinto

AU - Squarzoni, S

AU - Toscano, A

AU - Vercelli, L

AU - Ziacchi, M.

PY - 2012

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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.

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KW - Genetic Diseases

KW - Humans

KW - Inborn

KW - Interdisciplinary Communication

KW - Lamins

KW - Lipodystrophy

KW - Muscular Dystrophy

KW - Nuclear Envelope

KW - Progeria

KW - Rare Diseases

KW - Translational Medical Research

KW - Emery-Dreifuss

KW - Genetic Diseases

KW - Humans

KW - Inborn

KW - Interdisciplinary Communication

KW - Lamins

KW - Lipodystrophy

KW - Muscular Dystrophy

KW - Nuclear Envelope

KW - Progeria

KW - Rare Diseases

KW - Translational Medical Research

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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

IS - Giugno

ER -

The empowerment of translational research: lessons from laminopathies

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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