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Mostrati risultati da 1 a 20 di 39
Titolo Data di pubblicazione Autore(i) Rivista Editore
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1-gen-2022 Mocci, Stefano; Littera, Roberto; Tranquilli, Stefania; Provenzano, Aldesia; Mascia, Alessia; Cannas, Federica; Lai, Sara; Giuressi, Erika; Chessa, Luchino; Angioni, Goffredo; Campagna, Marcello; Firinu, Davide; DEL ZOMPO, Maria; LA NASA, Giorgio; Perra, Andrea; Giglio, SABRINA RITA FRONTIERS IN IMMUNOLOGY -
Assessing the Metabolomic Profile of Multiple Sclerosis Patients Treated with Interferon Beta 1a by 1 H-NMR Spectroscopy 1-gen-2019 Lorefice, Lorena; Murgia, Federica; Fenu, Giuseppe; Frau, Jessica; Coghe, Giancarlo; Murru, Maria Rita; Tranquilli, Stefania; Visconti, Andrea; Marrosu, Maria Giovanna; Atzori, Luigi; Cocco, Eleonora NEUROTHERAPEUTICS -
Tardbp ala382thr mutation in multiple sclerosis: A possible role in brain atrophy 1-gen-2018 Lorefice, L; Fenu, G; Murru, Mr; Sechi, V; Frau, J; Coghe, G; Cuccu, S; Tranquilli, S; Cocco, E; Marrosu, Mg CURRENT MEDICAL IMAGING REVIEWS -
Erratum to: Charcot–Marie–Tooth disease: genetic subtypes in the Sardinian population (Neurological Sciences, (2017), 38, 6, (1019-1025), 10.1007/s10072-017-2905-x 1-gen-2017 Lorefice, Lorena; Murru, MARIA RITA; Coghe, Giancarlo; Fenu, Giuseppe; Corongiu, Daniela; Frau, Jessica; Tranquilli, Stefania; Tacconi, Paolo; Vannelli, Alessandro; Marrosu, Giovanni; Mamusa, Elena; Cocco, Eleonora; Marrosu, MARIA GIOVANNA NEUROLOGICAL SCIENCES -
Charcot–Marie–Tooth disease: genetic subtypes in the Sardinian population 1-gen-2017 Lorefice, Lorena; Murru, MARIA RITA; Coghe, Giancarlo; Fenu, Giuseppe; Corongiu, Daniela; Frau, Jessica; Tranquilli, Stefania; Tacconi, Paolo; Vannelli, Alessandro; Marrosu, Giovanni; Mamusa, Elena; Cocco, Eleonora; Marrosu, MARIA GIOVANNA NEUROLOGICAL SCIENCES -
Progressive apraxia of speech in a patient with a C9orf72 mutation 1-gen-2016 DI STEFANO, Francesca; Melis, Monica; Cannas, Antonino; Borghero, Giuseppe; Murru, MARIA RITA; Corongiu, Daniela; Cuccu, Stefania; Tranquilli, Stefania; Marrosu, MARIA GIOVANNA; Marrosu, Francesco; Floris, Gianluca AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION -
Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred 1-gen-2016 Floris, Gianluca; Borghero, Giuseppe; DI STEFANO, Francesca; Melis, Rosanna; Puddu, Roberta; Fadda, Laura; Murru, MARIA RITA; Corongiu, Daniela; Cuccu, Stefania; Tranquilli, Stefania; Cannas, Antonino; Marrosu, MARIA GIOVANNA; Chiò, Adriano; Marrosu, Francesco AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION -
Role of interferon-beta in Mycobacterium avium subspecies paratuberculosis antibody response in Sardinian MS patients 1-gen-2015 Frau, Jessica; Cossu, Davide; Coghe, Giancarlo; Lorefice, Lorena; Fenu, Giuseppe; Porcu, Gianluca; Sardu, Claudia; Murru, Maria Rita; Tranquilli, Stefania; Marrosu, MARIA GIOVANNA; Sechi, Leonardo Antonio; Cocco, Eleonora JOURNAL OF THE NEUROLOGICAL SCIENCES -
A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: The TARDBP Ala382Thr mutation and C9orf72 expansion 1-gen-2015 Lorefice, L; Murru, M R; Fenu, G; Corongiu, D; Frau, J; Cuccu, S; Coghe, G; Tranquilli, S; Cocco, E; Marrosu, M G JOURNAL OF THE NEUROLOGICAL SCIENCES -
C9ORF72 intermediate repeat expansion in patients affected by atypical Parkinsonian syndromes or parkinson’s disease complicated by psychosis or dementia in a Sardinian population 1-gen-2015 Cannas, Antonino; Solla, Paolo; Borghero, Giuseppe; Floris, Gian Luca; Chio, Adriano; Mascia, Marcello Mario; Modugno, Nicola; Muroni, Antonella; Orofino, Gianni; DI STEFANO, Francesca; Calvo, Andrea; Moglia, Cristina; Restagno, Gabriella; Meloni, Mario; Farris, Rita; Ciaccio, Daniela; Puddu, Roberta; Vacca, MELISA IRIS SABINA; Melis, Rosanna; Murru, Maria Rita; Tranquilli, Stefania; Corongiu, Daniela; Rolesu, Marcella; Cuccu, Stefania; Marrosu, MARIA GIOVANNA; Marrosu, Francesco JOURNAL OF NEUROLOGY -
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population 1-gen-2015 Lorefice, Lorena; Tranquilli, Stefania; Fenu, Giuseppe; Murru, MARIA RITA; Frau, Jessica; Rolesu, M; Coghe, Giancarlo; Marrosu, Francesco; Marrosu, MARIA GIOVANNA; Cocco, Eleonora NEUROLOGICAL SCIENCES -
Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders? 1-gen-2013 Floris, G; Borghero, G; Cannas, A; Stefano, Fd; Murru, Mr; Corongiu, D; Cuccu, S; Tranquilli, Stefania; Marrosu, MARIA GIOVANNA; Chiò, A; Marrosu, Francesco JOURNAL OF NEUROLOGY -
Mycobacterium avium subsp. Paratuberculosis and multiple sclerosis in Sardinian patients: Epidemiology and clinical features 1-gen-2013 Frau, Jessica; Cossu, Daniel; Coghe, Giancarlo; Lorefice, Lorena; Fenu, Giuseppe; Melis, Marta; Paccagnini, D; Sardu, Claudia; Murru, MARIA RITA; Tranquilli, Stefania; Marrosu, MARIA GIOVANNA; Sechi, La; Cocco, Eleonora MULTIPLE SCLEROSIS -
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 -
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 -
Evaluation of FMR1 gene premutation in Sardinians multiple sclerosis 1-gen-2011 Cocco, Eleonora; Tranquilli, Stefania; M. R., Murru; J., Frau; Lorefice, Lorena; E., Mamusa; G., Fenu; Coghe, Giancarlo; Marrosu, MARIA GIOVANNA - -
Leucine-rich repeat kinase 2 (LRRK2) gene mutations in degenerative parkinsonism 1-gen-2010 Solla, Paolo; A., Cannas; G., Floris; E., Costantino; M. R., Murru; D., Corongiu; Tranquilli, Stefania; S., Cuccu; M., Rolesu; V., Oppo; M., Corona; L., Polizzi; G., Orofino; Marrosu, Francesco; Marrosu, MARIA GIOVANNA - -
Evaluation of high doses of ascorbic acid efficacy in Charcot Marie Tooth type 1A 1-gen-2010 Coghe, Giancarlo; Mamusa, E.; Cocco, Eleonora; Frau, J.; Fenu, G.; Lorefice, Lorena; Piras, R.; Melis, M.; Vannelli, A.; Corongiu, D.; Tranquilli, Stefania; Marrosu, G.; Marrosu, MARIA GIOVANNA - -
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 -
Parkin exon rearrangements and sequence variants in LRRK2 mutations carriers: analysis on a possible modifier effects on LRRK2 penetrance 1-gen-2010 Solla, Paolo; A., Cannas; G., Floris; M. R., Murru; D., Corongiu; Tranquilli, Stefania; S., Cuccu; M., Rolesu; Marrosu, Francesco; Marrosu, MARIA GIOVANNA PARKINSON'S DISEASE -
Mostrati risultati da 1 a 20 di 39
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