TRANQUILLI, STEFANIA
TRANQUILLI, STEFANIA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: The TARDBP Ala382Thr mutation and C9orf72 expansion
2015-01-01 Lorefice, L; Murru, M R; Fenu, G; Corongiu, D; Frau, J; Cuccu, S; Coghe, G; Tranquilli, S; Cocco, E; Marrosu, M G
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population
2015-01-01 Lorefice, Lorena; Tranquilli, Stefania; Fenu, Giuseppe; Murru, MARIA RITA; Frau, Jessica; Rolesu, M; Coghe, Giancarlo; Marrosu, Francesco; Marrosu, MARIA GIOVANNA; Cocco, Eleonora
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities
2006-01-01 Murru, Mr; Vannelli, A; Marrosu, G; Cocco, Eleonora; Corongiu, D; Tranquilli, Stefania; Cherchi, Mv; Mura, M; Barberini, Luigi; Mallarini, G; Marrosu, MARIA GIOVANNA
A novel CX32 mutation Glu41Asp causes X-linked Charcot-Marie-Tooth disease, brainsteam and central white matter abnormalities
2005-01-01 M. R., Murru; A., Vannelli; G., Marrosu; Cocco, Eleonora; D., Corongiu; Tranquilli, Stefania; M. V., Cerchi; M., Mura; Barberini, Luigi; Marrosu, MARIA GIOVANNA
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population
2022-01-01 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
Alterazioni funzionali e molecolari dei recettori GABAA in cellule ippocampali di ratto dopo trattamento cronico e astinenza da etanolo
2002-01-01 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
2006-01-01 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
2007-01-01 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
2002-01-01 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
2019-01-01 Lorefice, Lorena; Murgia, Federica; Fenu, Giuseppe; Frau, Jessica; Coghe, Giancarlo; Murru, Maria Rita; Tranquilli, Stefania; Visconti, Andrea; Marrosu, Maria Giovanna; Atzori, Luigi; Cocco, Eleonora
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?
2008-01-01 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?
2013-01-01 Floris, G; Borghero, G; Cannas, A; Stefano, Fd; Murru, Mr; Corongiu, D; Cuccu, S; Tranquilli, Stefania; Marrosu, MARIA GIOVANNA; Chiò, A; Marrosu, Francesco
C9ORF72 intermediate repeat expansion in patients affected by atypical Parkinsonian syndromes or parkinson’s disease complicated by psychosis or dementia in a Sardinian population
2015-01-01 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
Changes in GABA(A) receptor gene expression associated with selective alterations in receptor function and pharmacology after ethanol withdrawal
2003-01-01 Sanna, Enrico; Mostallino, Mc; Busonero, F; Talani, Giuseppe; Tranquilli, Stefania; Mameli, M; Spiga, Saturnino; Follesa, Paolo; Biggio, G.
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
2003-01-01 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
2017-01-01 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
Distonia cranio-cervicale familiare ad insorgenza nell’età adulta: Studio clinico e genetico di una famiglia sarda
2005-01-01 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
2017-01-01 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
Evaluation of FMR1 gene premutation in Sardinians multiple sclerosis
2011-01-01 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
2010-01-01 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
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| 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 | - |
| 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 | - |
| A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities | 1-gen-2006 | Murru, Mr; Vannelli, A; Marrosu, G; Cocco, Eleonora; Corongiu, D; Tranquilli, Stefania; Cherchi, Mv; Mura, M; Barberini, Luigi; Mallarini, G; Marrosu, MARIA GIOVANNA | NEUROLOGICAL SCIENCES | - |
| 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 | - |
| 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 | - |
| 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 | - | - |