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TitoloData di pubblicazioneAutore(i)RivistaEditore
Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutationsIn stampaSpinicci G; Conti M; Cherchi MV; Mancosu C; Murru R; Carboni NJOURNAL OF STROKE AND CEREBROVASCULAR DISEASES
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14In stampaCossins J; Belaya K; Hicks D; Salih MA; Finlayson S; Carboni N; Liu WW; Maxwell S; Zoltowska K; F...arsani GT; Laval S; Seidhamed MZ; WGS500 consortium; Donnelly P; Bentley D; McGowan SJ; Müller J; Palace J; Lochmüller H; Beeson DBRAIN
Influence of treatments in multiple sclerosis disability: a cohort study2015Cocco, 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 GiovannaMULTIPLE SCLEROSIS
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin2014Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice, Maria R.; Mate...ddu, 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 mutations2013Carboni, Nicola; Mateddu, A; Marrosu, G; Cocco, Eleonora; Marrosu, MARIA GIOVANNAMUSCLE & NERVE
Interaction between HLA-DRB1-DQB1 haplotypes in Sardinian multiple sclerosis population2013Cocco, 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 GIOVANNAPLOS ONE
Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation2012Carboni N; Sardu C; Cocco E; Marrosu G; Manzi RC; Nissardi V; Isola F; Mateddu A; Solla E; Maioli... MA; Oppo V; Piras R; Coghe G; Lai C; Marrosu MG.MUSCLE & NERVE
The empowerment of translational research: lessons from laminopathies.2012Benedetti S; Bernasconi P; Bertini E; Biagini E; Boriani G; Capanni C; Carboni N; Cenacchi G; Col...umbaro 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 MORPHANET JOURNAL OF RARE DISEASES
Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib2012Caocci, Giovanni; Maioli, Ma; Atzeni, S; Piras, R; Carboni, Nicola; LA NASA, GiorgioLEUKEMIA RESEARCH
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy2012Carboni, 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 GNEUROMUSCULAR DISORDERS
Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles2012Cocco, 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 GIOVANNAPLOS ONE
HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia2012Cocco E; Sardu C; Pieroni E; Valentini M; Murru R; Costa G; Tranquilli S; Frau J; Coghe G; Carbon...i N; Floris M; Contu P; Marrosu M GPLOS ONE
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.2011Gavassini BF; Carboni N; Nielsen JE; Danielsen ER; Thomsen C; Svenstrup K; Bello L; Maioli MA; Ma...rrosu G; Ticca AF; Mura M; Marrosu M; Soraru G; Angelini C; Vissing J; Pegoraro EMUSCLE & NERVE
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 52011Carboni N; Floris M; Mateddu A; Porcu M; Marrosu G; Solla E; Cocco E; Mura M; Marini S; Maioli MA...; Piras R; Aste R; Marrosu MG.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?2011Carboni N; Marrosu G; Porcu M; Mateddu A; Solla E; Cocco E; Maioli MA; Oppo V; Piras R; Marrosu MGMUSCLE & NERVE
A Novel Mutation in Lamin A/C Gene: Phenotype and Consequences on the Protein Structure and Flexibility2010Carboni N; Floris M; Valentini M; Marrosu G; Cocco E; Maioli MA; Solla E; Mateddu A; Mura M; Marr...osu MGSRX BIOLOGY
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement2010Carboni N; Porcu M; Mura M; Cocco E; Marrosu G; Maioli MA; Solla E; Tranquilli S; Orru P; Marrosu MMUSCLE & NERVE
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations2010Carboni N; Mura M; Marrosu G; Cocco E; Marini S; Solla E; Mateddu A; Maioli MA; Piras R; Mallarin...i G; Mercuro G; Porcu M; Marrosu MMUSCLE & NERVE
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation2008Carboni N; Mura M; Marrosu G; Cocco E; Ahmad M; Solla E; Mateddu A; Maioli MA; Marini S; Nissardi... V; Frau J; Mallarini G; Mercuro G; Marrosu MG.NEUROMUSCULAR DISORDERS
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype2007Maioli MA; Marrosu G; Mateddu A; Solla E; Carboni N; Tacconi P; Lai C; Marrosu MG.MUSCLE & NERVE
   
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