TRANQUILLI, STEFANIA

TRANQUILLI, STEFANIA  

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Risultati 1 - 20 di 38 (tempo di esecuzione: 0.146 secondi).
Titolo Data di pubblicazione Autore(i) Rivista Editore
A novel CX32 mutation Glu41Asp causes X-linked Charcot-Marie-Tooth disease, brainsteam and central white matter abnormalities 1-gen-2005 M. R., Murru; A., Vannelli; G., Marrosu; Cocco, Eleonora; D., Corongiu; Tranquilli, Stefania; M. V., Cerchi; M., Mura; Barberini, Luigi; Marrosu, MARIA GIOVANNA JOURNAL OF NEUROLOGY -
Alterazioni funzionali e molecolari dei recettori GABAA in cellule ippocampali di ratto dopo trattamento cronico e astinenza da etanolo 1-gen-2002 Talani, G; Busonero, F; Mostallino M., C; Mameli, M; Carta, A; Vincis, C; Cadeddu, G; Tranquilli, Stefania; Follesa, Paolo; Sanna, E. - -
Analysis of LRRK2 G2019 mutation in a sardinian cohort of PD patients 1-gen-2006 G., Floris; A., Cannas; M. R., Murru; Tranquilli, Stefania; D., Corongiu; M., Rolesu; Marrosu, Francesco; Marrosu, MARIA GIOVANNA - -
Analysis of parkin exon rearrangements and sequence variants in LRRK2 mutations carriers 1-gen-2007 Solla, Paolo; A., Cannas; G., Floris; M. R., Murru; D., Corongiu; Tranquilli, Stefania; S., Cuccu; M., Rolesu; F., Orlandini; C., Pani; Marrosu, Francesco; Marrosu, MARIA GIOVANNA - -
Aryl Substituted Imidazoles as a Novel Class of potent and Efficacious Allosteric Modulators of GABAA Receptor function 1-gen-2002 Sanna, E.; Talani, G.; Busonero, F.; Tranquilli, Stefania; Mascia, M. P.; Maciocco, E.; Asproni, B.; Cerri, R.; Pau, A.; Biggio, G. - -
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 -
Axonal Charcot-Marie-Tooth disease, distal hereditary motor neuropathy and spastic paraplegia in a large Sardinian family with Heat Shock Protein RW mutation: an expression of a common spectrum? 1-gen-2008 Solla, Paolo; Alessandro, Vannelli; Alessandra, Bolino; Giovanni, Marrosu; Silvia, Coviello; Maria Rita, Murru; Tranquilli, Stefania; Daniela, Corongiu; Sara, Benedetti; Marrosu, MARIA GIOVANNA - -
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 -
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 -
Changes in GABA(A) receptor gene expression associated with selective alterations in receptor function and pharmacology after ethanol withdrawal 1-gen-2003 Sanna, Enrico; Mostallino, Mc; Busonero, F; Talani, Giuseppe; Tranquilli, Stefania; Mameli, M; Spiga, Saturnino; Follesa, Paolo; Biggio, G. THE JOURNAL OF NEUROSCIENCE -
Characterization of the effects of a series of Aryl Substituted Imidazoles, as a novel class of potent and efficacious allosteric modulators of GABAA Receptor function 1-gen-2003 Busonero, F.; Talani, G.; Tranquilli, S; Mascia, MARIA PIA; Mostallino, M. C.; Maciocco, E.; Asproni, B.; Cerri, R.; Sanna, E. - -
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 -
Distonia cranio-cervicale familiare ad insorgenza nell’età adulta: Studio clinico e genetico di una famiglia sarda 1-gen-2005 Daniela, Murgia; Maria Rita, Murru; Daniela, Corongiu; Tranquilli, Stefania; Marrosu, MARIA GIOVANNA; Andrea, Molari; Giannina, Melis; Andrea, Spissu; Giovanni, Cossu - -
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 -
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 - -
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 -
Evoluzione del fenotipo in una famiglia con mutazione a carico del gene LMNA 1-gen-2009 Carboni, N; Marrosu, G; Maioli M., A; Porcu, M; Mura, M; Cocco, Eleonora; Solla, E; Tranquilli, Stefania; Orrù, P; Marrosu, MARIA GIOVANNA - -
Genetic analysis for five LRRK2 mutations in sardinian patients with familial or sporadic Parkinson’s disease 1-gen-2007 Solla, Paolo; Cannas, A.; Floris, G.; Murru, M. R.; Tranquilli, Stefania; Corongiu, D.; Marrosu, Francesco; Marrosu, MARIA GIOVANNA - -
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 -