CARBONI, NICOLA
CARBONI, NICOLA
DIPARTIMENTO DI SANITA' PUBBLICA, MEDICINA CLINICA E MOLECOLARE (attivo dal 01/01/1900 al 31/12/2019)
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
In corso di stampa Cossins, J; Belaya, K; Hicks, D; Salih, Ma; Finlayson, S; Carboni, Nicola; Liu, Ww; Maxwell, S; Zoltowska, K; Farsani, Gt; Laval, S; Seidhamed, Mz; Wgs500, Consortium; Donnelly, P; Bentley, D; Mcgowan, Sj; Müller, J; Palace, J; Lochmüller, H; Beeson, D.
Influence of treatments in multiple sclerosis disability: a cohort study
2015-01-01 Cocco, Eleonora; Sardu, Claudia; Spinicci, Gabriella; Musu, Luigina; Massa, Rita; Frau, Jessica; Lorefice, Lorena; Fenu, Giuseppe; Coghe, Giancarlo; Massole, Serenella; Maioli, Maria Antonietta; Piras, Rachele; Melis, Marta; Porcu, Gianluca; Mamusa, Elena; Carboni, Nicola; Contu, Paolo; Marrosu, Maria Giovanna
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin
2014-01-01 Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice, Maria R.; Mateddu, Anna; Mcintyre, Adam; Fadda, Elisabetta; Mura, Marco; Lattanzi, Giovanna; Piras, Rachele; Maioli, Maria A.; Marrosu, Giovanni; Novelli, Giuseppe; Marrosu, Maria G.; Hegele, Robert A.
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations
2013-01-01 Carboni, Nicola; Mateddu, A; Marrosu, G; Cocco, Eleonora; Marrosu, MARIA GIOVANNA
Interaction between HLA-DRB1-DQB1 haplotypes in Sardinian multiple sclerosis population
2013-01-01 Cocco, Eleonora; Murru, Raffaele; Costa, G; Kumar, Amit; Pieroni, E; Melis, C; Barberini, Luigi; Sardu, Claudia; Lorefice, Lorena; Fenu, Giuseppe; Frau, Jessica; Coghe, Giancarlo; Carboni, Nicola; Marrosu, MARIA GIOVANNA
Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations
2013-01-01 Spinicci, G; Conti, M; Cherchi, Mv; Mancosu, C; Murru, R; Carboni, Nicola
Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib
2012-01-01 Caocci, Giovanni; Maioli, Ma; Atzeni, S; Piras, R; Carboni, Nicola; LA NASA, Giorgio
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy
2012-01-01 Carboni, Nicola; Mura, Marco; Mercuri, Eugenio; Marrosu, Giovanni; Manzi, Rosa C; Cocco, Eleonora; Nissardi, Vincenzo; Isola, Franco; Mateddu, Anna; Solla, Elisabeta; Maioli, Maria A; Oppo, Valentina; Piras, Rachele; Marini, Stefano; Lai, Carlo; Politano, Luisa; Marrosu, Maria G
Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation
2012-01-01 Carboni, Nicola; Sardu, Claudia; Cocco, Eleonora; Marrosu, G; Manzi, Rc; Nissardi, V; Isola, F; Mateddu, A; Solla, E; Maioli, Ma; Oppo, V; Piras, R; Coghe, Giancarlo; Lai, C; Marrosu, MARIA GIOVANNA
HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia
2012-01-01 Cocco, Eleonora; Sardu, Claudia; Pieroni, E; Valentini, M; Murru, Raffaele; Costa, G; Tranquilli, Stefania; Frau, Jessica; Coghe, Giancarlo; Carboni, Nicola; Floris, M; Contu, Paolo; Marrosu, MARIA GIOVANNA
The empowerment of translational research: lessons from laminopathies.
2012-01-01 Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, G; Capanni, C; Carboni, Nicola; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; 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.
Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles
2012-01-01 Cocco, Eleonora; Meloni, Alessandra; Murru, MARIA RITA; Corongiu, D; Tranquilli, Stefania; Fadda, E; Murru, Raffaele; Schirru, L; Secci, Ma; Costa, G; Asunis, I; Cuccu, Stefania; Fenu, Giuseppe; Lorefice, Lorena; Carboni, Nicola; Mura, Gioia; Rosatelli, MARIA CRISTINA; Marrosu, MARIA GIOVANNA
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5
2011-01-01 Carboni, Nicola; Floris, M; Mateddu, A; Porcu, M; Marrosu, G; Solla, E; Cocco, Eleonora; Mura, M; Marini, S; Maioli, Ma; Piras, R; Aste, R; Marrosu, MARIA GIOVANNA
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
2011-01-01 Gavassini, Bf; Carboni, Nicola; Nielsen, Je; Danielsen, Er; Thomsen, C; Svenstrup, K; Bello, L; Maioli, Ma; Marrosu, G; Ticca, Af; Mura, M; Marrosu, MARIA GIOVANNA; Soraru, G; Angelini, C; Vissing, J; Pegoraro, E.
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
2011-01-01 Carboni, Nicola; Marrosu, G; Porcu, M; Mateddu, A; Solla, E; Cocco, Eleonora; Maioli, Ma; Oppo, V; Piras, R; Marrosu, MARIA GIOVANNA
A Novel Mutation in Lamin A/C Gene: Phenotype and Consequences on the Protein Structure and Flexibility
2010-01-01 Carboni, Nicola; Floris, M; Valentini, M; Marrosu, G; Cocco, Eleonora; Maioli, Ma; Solla, E; Mateddu, A; Mura, M; Marrosu, MARIA GIOVANNA
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement
2010-01-01 Carboni, Nicola; Porcu, M; Mura, M; Cocco, Eleonora; Marrosu, G; Maioli, Ma; Solla, E; Tranquilli, Stefania; Orru, P; Marrosu, MARIA GIOVANNA
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
2010-01-01 Carboni, Nicola; Mura, M; Marrosu, G; Cocco, Eleonora; Marini, S; Solla, E; Mateddu, A; Maioli, Ma; Piras, R; Mallarini, G; Mercuro, Giuseppe; Porcu, M; Marrosu, MARIA GIOVANNA
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
2008-01-01 Carboni, Nicola; Mura, M; Marrosu, G; Cocco, Eleonora; Ahmad, M; Solla, E; Mateddu, A; Maioli, Ma; Marini, S; Nissardi, V; Frau, Jessica; Mallarini, G; Mercuro, Giuseppe; Marrosu, MARIA GIOVANNA
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype
2007-01-01 Maioli, Ma; Marrosu, G; Mateddu, A; Solla, E; Carboni, Nicola; Tacconi, P; Lai, C; Marrosu, MARIA GIOVANNA
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 | In corso di stampa | Cossins, J; Belaya, K; Hicks, D; Salih, Ma; Finlayson, S; Carboni, Nicola; Liu, Ww; Maxwell, S; Zoltowska, K; Farsani, Gt; Laval, S; Seidhamed, Mz; Wgs500, Consortium; Donnelly, P; Bentley, D; Mcgowan, Sj; Müller, J; Palace, J; Lochmüller, H; Beeson, D. | BRAIN | - |
| Influence of treatments in multiple sclerosis disability: a cohort study | 1-gen-2015 | Cocco, Eleonora; Sardu, Claudia; Spinicci, Gabriella; Musu, Luigina; Massa, Rita; Frau, Jessica; Lorefice, Lorena; Fenu, Giuseppe; Coghe, Giancarlo; Massole, Serenella; Maioli, Maria Antonietta; Piras, Rachele; Melis, Marta; Porcu, Gianluca; Mamusa, Elena; Carboni, Nicola; Contu, Paolo; Marrosu, Maria Giovanna | MULTIPLE SCLEROSIS | - |
| Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin | 1-gen-2014 | Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice, Maria R.; Mateddu, Anna; Mcintyre, Adam; Fadda, Elisabetta; Mura, Marco; Lattanzi, Giovanna; Piras, Rachele; Maioli, Maria A.; Marrosu, Giovanni; Novelli, Giuseppe; Marrosu, Maria G.; Hegele, Robert A. | MUSCLE & NERVE | - |
| Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations | 1-gen-2013 | Carboni, Nicola; Mateddu, A; Marrosu, G; Cocco, Eleonora; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| Interaction between HLA-DRB1-DQB1 haplotypes in Sardinian multiple sclerosis population | 1-gen-2013 | Cocco, Eleonora; Murru, Raffaele; Costa, G; Kumar, Amit; Pieroni, E; Melis, C; Barberini, Luigi; Sardu, Claudia; Lorefice, Lorena; Fenu, Giuseppe; Frau, Jessica; Coghe, Giancarlo; Carboni, Nicola; Marrosu, MARIA GIOVANNA | PLOS ONE | - |
| Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations | 1-gen-2013 | Spinicci, G; Conti, M; Cherchi, Mv; Mancosu, C; Murru, R; Carboni, Nicola | JOURNAL OF STROKE AND CEREBROVASCULAR DISEASES | - |
| Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib | 1-gen-2012 | Caocci, Giovanni; Maioli, Ma; Atzeni, S; Piras, R; Carboni, Nicola; LA NASA, Giorgio | LEUKEMIA RESEARCH | - |
| Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy | 1-gen-2012 | Carboni, Nicola; Mura, Marco; Mercuri, Eugenio; Marrosu, Giovanni; Manzi, Rosa C; Cocco, Eleonora; Nissardi, Vincenzo; Isola, Franco; Mateddu, Anna; Solla, Elisabeta; Maioli, Maria A; Oppo, Valentina; Piras, Rachele; Marini, Stefano; Lai, Carlo; Politano, Luisa; Marrosu, Maria G | NEUROMUSCULAR DISORDERS | - |
| Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation | 1-gen-2012 | Carboni, Nicola; Sardu, Claudia; Cocco, Eleonora; Marrosu, G; Manzi, Rc; Nissardi, V; Isola, F; Mateddu, A; Solla, E; Maioli, Ma; Oppo, V; Piras, R; Coghe, Giancarlo; Lai, C; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia | 1-gen-2012 | Cocco, Eleonora; Sardu, Claudia; Pieroni, E; Valentini, M; Murru, Raffaele; Costa, G; Tranquilli, Stefania; Frau, Jessica; Coghe, Giancarlo; Carboni, Nicola; Floris, M; Contu, Paolo; Marrosu, MARIA GIOVANNA | PLOS ONE | - |
| The empowerment of translational research: lessons from laminopathies. | 1-gen-2012 | Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, G; Capanni, C; Carboni, Nicola; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; 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. | ORPHANET JOURNAL OF RARE DISEASES | - |
| Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles | 1-gen-2012 | Cocco, Eleonora; Meloni, Alessandra; Murru, MARIA RITA; Corongiu, D; Tranquilli, Stefania; Fadda, E; Murru, Raffaele; Schirru, L; Secci, Ma; Costa, G; Asunis, I; Cuccu, Stefania; Fenu, Giuseppe; Lorefice, Lorena; Carboni, Nicola; Mura, Gioia; Rosatelli, MARIA CRISTINA; Marrosu, MARIA GIOVANNA | PLOS ONE | - |
| Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5 | 1-gen-2011 | Carboni, Nicola; Floris, M; Mateddu, A; Porcu, M; Marrosu, G; Solla, E; Cocco, Eleonora; Mura, M; Marini, S; Maioli, Ma; Piras, R; Aste, R; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. | 1-gen-2011 | Gavassini, Bf; Carboni, Nicola; Nielsen, Je; Danielsen, Er; Thomsen, C; Svenstrup, K; Bello, L; Maioli, Ma; Marrosu, G; Ticca, Af; Mura, M; Marrosu, MARIA GIOVANNA; Soraru, G; Angelini, C; Vissing, J; Pegoraro, E. | MUSCLE & NERVE | - |
| Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype? | 1-gen-2011 | Carboni, Nicola; Marrosu, G; Porcu, M; Mateddu, A; Solla, E; Cocco, Eleonora; Maioli, Ma; Oppo, V; Piras, R; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| A Novel Mutation in Lamin A/C Gene: Phenotype and Consequences on the Protein Structure and Flexibility | 1-gen-2010 | Carboni, Nicola; Floris, M; Valentini, M; Marrosu, G; Cocco, Eleonora; Maioli, Ma; Solla, E; Mateddu, A; Mura, M; Marrosu, MARIA GIOVANNA | SRX BIOLOGY | - |
| Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement | 1-gen-2010 | Carboni, Nicola; Porcu, M; Mura, M; Cocco, Eleonora; Marrosu, G; Maioli, Ma; Solla, E; Tranquilli, Stefania; Orru, P; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations | 1-gen-2010 | Carboni, Nicola; Mura, M; Marrosu, G; Cocco, Eleonora; Marini, S; Solla, E; Mateddu, A; Maioli, Ma; Piras, R; Mallarini, G; Mercuro, Giuseppe; Porcu, M; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation | 1-gen-2008 | Carboni, Nicola; Mura, M; Marrosu, G; Cocco, Eleonora; Ahmad, M; Solla, E; Mateddu, A; Maioli, Ma; Marini, S; Nissardi, V; Frau, Jessica; Mallarini, G; Mercuro, Giuseppe; Marrosu, MARIA GIOVANNA | NEUROMUSCULAR DISORDERS | - |
| A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype | 1-gen-2007 | Maioli, Ma; Marrosu, G; Mateddu, A; Solla, E; Carboni, Nicola; Tacconi, P; Lai, C; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |