| Titolo | Data di pubblicazione | Autori | Tipo | Abstract |
|---|
| Assessing the Metabolomic Profile of Multiple Sclerosis Patients Treated with Interferon Beta 1a by 1 H-NMR Spectroscopy | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Tardbp ala382thr mutation in multiple sclerosis: A possible role in brain atrophy | 2018 | Lorefice L; Fenu G; Murru MR; Sechi V; Frau J; Coghe G; Cuccu S; TRANQUILLI, STEFANIA ; COCCO, ELEONORA ; MArrosu MG | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| 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) | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Charcot–Marie–Tooth disease: genetic subtypes in the Sardinian population | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Progressive apraxia of speech in a patient with a C9orf72 mutation | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | - |
| C9ORF72 intermediate repeat expansion in patients affected by atypical Parkinsonian syndromes or parkinson’s disease complicated by psychosis or dementia in a Sardinian population | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population | 2015 | LOREFICE, LORENA ; TRANQUILLI, STEFANIA ; FENU, GIUSEPPE ; MURRU, MARIA RITA; FRAU, JESSICA ; Rolesu M; COGHE, GIANCARLO ; MARROSU, FRANCESCO ; MARROSU, MARIA GIOVANNA ; COCCO, ELEONORA | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Role of interferon-beta in Mycobacterium avium subspecies paratuberculosis antibody response in Sardinian MS patients | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: The TARDBP Ala382Thr mutation and C9orf72 expansion | 2015 | LOREFICE, LORENA ; Murru M R; FENU, GIUSEPPE ; Corongiu D; FRAU, JESSICA ; Cuccu S; COGHE, GIANCARLO ; TRANQUILLI, STEFANIA ; COCCO, ELEONORA ; Marrosu M G | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Bipolar affective disorder preceding
frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic
link between these two disorders? | 2013 | Floris G; Borghero G; Cannas A; Stefano FD; Murru MR; Corongiu D; Cuccu S; TRANQUILLI, STEFANIA ; MARROSU, MARIA GIOVANNA ; Chiò A; MARROSU, FRANCESCO | 1 Contributo su Rivista::1.1 Articolo in rivista | - |
| Mycobacterium avium subsp. Paratuberculosis and multiple sclerosis in Sardinian patients: Epidemiology and clinical features | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia | 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 | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Evaluation of FMR1 gene premutation in Sardinians multiple sclerosis | 2011 | COCCO, ELEONORA ; TRANQUILLI, STEFANIA ; M. R. Murru; J. Frau; LOREFICE, LORENA ; E. Mamusa; G. Fenu; COGHE, GIANCARLO ; MARROSU, MARIA GIOVANNA | 4 Contributo in Atti di Convegno (Proceeding)::4.3 Poster | - |
| Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement | 2010 | CARBONI, NICOLA ; Porcu M; Mura M; COCCO, ELEONORA ; Marrosu G; Maioli MA; Solla E; TRANQUILLI, STEFANIA ; Orru P; MARROSU, MARIA GIOVANNA | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Evaluation of high doses of ascorbic acid efficacy in Charcot Marie Tooth type 1A | 2010 | COGHE, GIANCARLO ; E. Mamusa; COCCO, ELEONORA ; J. Frau; G. Fenu; LOREFICE, LORENA ; PIRAS, RACHELE ; M. Melis; A. Vannelli; D. Corongiu; TRANQUILLI, STEFANIA ; G. Marrosu; MARROSU, MARIA GIOVANNA | 4 Contributo in Atti di Convegno (Proceeding)::4.3 Poster | - |
| Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy | 2010 | SOLLA, PAOLO ; Vannelli A; Bolino A; Marrosu G; Coviello S; Murru MR; TRANQUILLI, STEFANIA ; Corongiu D; Benedetti S; MARROSU, MARIA GIOVANNA | 1 Contributo su Rivista::1.1 Articolo in rivista | |
| Leucine-rich repeat kinase 2 (LRRK2) gene mutations in degenerative parkinsonism | 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 | 4 Contributo in Atti di Convegno (Proceeding)::4.2 Abstract in Atti di convegno | - |
| Parkin exon rearrangements and sequence variants in LRRK2 mutations carriers: analysis on a possible modifier effects on LRRK2 penetrance | 2010 | SOLLA, PAOLO ; A. Cannas; G. Floris; M. R. Murru; D. Corongiu; TRANQUILLI, STEFANIA ; S. Cuccu; M. Rolesu; MARROSU, FRANCESCO ; MARROSU, MARIA GIOVANNA | 1 Contributo su Rivista::1.1 Articolo in rivista | |
