Sfoglia per Autore
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
Parkin exon rearrangements and sequence variants in LRRK2 mutations carriers: analysis on a possible modifier effects on LRRK2 penetrance
2010-01-01 Solla, Paolo; A., Cannas; G., Floris; M. R., Murru; D., Corongiu; Tranquilli, Stefania; S., Cuccu; M., Rolesu; Marrosu, Francesco; Marrosu, MARIA GIOVANNA
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement
2010-01-01 Carboni, Nicola; Porcu, M; Mura, M; Cocco, Eleonora; Marrosu, G; Maioli, Ma; Solla, E; Tranquilli, Stefania; Orru, P; Marrosu, MARIA GIOVANNA
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy
2010-01-01 Solla, Paolo; Vannelli, A; Bolino, A; Marrosu, G; Coviello, S; Murru, Mr; Tranquilli, Stefania; Corongiu, D; Benedetti, S; Marrosu, MARIA GIOVANNA
Evoluzione del fenotipo in una famiglia con mutazione a carico del gene LMNA
2009-01-01 Carboni, N; Marrosu, G; Maioli M., A; Porcu, M; Mura, M; Cocco, Eleonora; Solla, E; Tranquilli, Stefania; Orrù, P; Marrosu, MARIA GIOVANNA
Ricerca di loci maggiori influenzanti infiammazione e autoimmunità in famiglie sarde con co-segregazione di Diabete tipo I e Sclerosi Multipla
2009-01-01 Tranquilli, Stefania
Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: Importance of G2019S and R1441C mutations in sporadic Parkinson’s disease patients
2009-01-01 Floris, G; Cannas, A; Solla, Paolo; Murru, Mr; Tranquilli, Stefania; Corongiu, D; Rolesu, M; Cuccu, S; Sardu, Claudia; Marrosu, Francesco; Marrosu, MARIA GIOVANNA
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
Ricerca di loci maggiori influenzanti infiammazione e autoimmunità in famiglie sarde con co-segregazione di Diabete tipo I e Sclerosi Multipla
2008-01-01 Tranquilli, Stefania
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia
2008-01-01 Pitzalis, M; Zavattari, Patrizia; Murru, Raffaele; Deidda, E; Zoledziewska, M; Murru, D; Moi, L; Motzo, C; Orrù, V; Costa, G; Solla, E; Fadda, E; Schirru, L; Melis, Mc; Lai, M; Mancosu, C; Tranquilli, Stefania; Cuccu, S; Rolesu, M; Secci, Ma; Corongiu, D; Contu, D; Lampis, R; Nucaro, A; Pala, G; Pacifico, A; Maioli, M; Frongia, P; Chessa, M; Ricciardi, R; Lostia, S; Marinaro, Am; Milia, Af; Landis, N; Zedda, Ma; Whalen, M; Santoni, F; Marrosu, MARIA GIOVANNA; Devoto, M; Cucca, F.
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
Parkin sequence variants in Parkinson’s disease patients with LRRK2 mutations
2007-01-01 Solla, Paolo; Cannas, A.; Floris, G.; Murru, M. R.; Corongiu, D.; Tranquilli, Stefania; Cuccu, S.; Rolesu, M.; Marrosu, MARIA GIOVANNA
Genetic analysis for five LRRK2 mutations in sardinian patients with familial or sporadic Parkinson’s disease
2007-01-01 Solla, Paolo; Cannas, A.; Floris, G.; Murru, M. R.; Tranquilli, Stefania; Corongiu, D.; Marrosu, Francesco; Marrosu, MARIA GIOVANNA
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
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
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
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.
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.
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.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| 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 | - | - |
| 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 | - |
| 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 | - |
| Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy | 1-gen-2010 | Solla, Paolo; Vannelli, A; Bolino, A; Marrosu, G; Coviello, S; Murru, Mr; Tranquilli, Stefania; Corongiu, D; Benedetti, S; Marrosu, MARIA GIOVANNA | JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY | - |
| 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 | - | - |
| Ricerca di loci maggiori influenzanti infiammazione e autoimmunità in famiglie sarde con co-segregazione di Diabete tipo I e Sclerosi Multipla | 1-gen-2009 | Tranquilli, Stefania | - | - |
| Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: Importance of G2019S and R1441C mutations in sporadic Parkinson’s disease patients | 1-gen-2009 | Floris, G; Cannas, A; Solla, Paolo; Murru, Mr; Tranquilli, Stefania; Corongiu, D; Rolesu, M; Cuccu, S; Sardu, Claudia; Marrosu, Francesco; Marrosu, MARIA GIOVANNA | PARKINSONISM & RELATED DISORDERS | - |
| 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 | - | - |
| Ricerca di loci maggiori influenzanti infiammazione e autoimmunità in famiglie sarde con co-segregazione di Diabete tipo I e Sclerosi Multipla | 1-gen-2008 | Tranquilli, Stefania | - | - |
| Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia | 1-gen-2008 | Pitzalis, M; Zavattari, Patrizia; Murru, Raffaele; Deidda, E; Zoledziewska, M; Murru, D; Moi, L; Motzo, C; Orrù, V; Costa, G; Solla, E; Fadda, E; Schirru, L; Melis, Mc; Lai, M; Mancosu, C; Tranquilli, Stefania; Cuccu, S; Rolesu, M; Secci, Ma; Corongiu, D; Contu, D; Lampis, R; Nucaro, A; Pala, G; Pacifico, A; Maioli, M; Frongia, P; Chessa, M; Ricciardi, R; Lostia, S; Marinaro, Am; Milia, Af; Landis, N; Zedda, Ma; Whalen, M; Santoni, F; Marrosu, MARIA GIOVANNA; Devoto, M; Cucca, F. | BMC MEDICAL GENETICS | - |
| 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 | - | - |
| Parkin sequence variants in Parkinson’s disease patients with LRRK2 mutations | 1-gen-2007 | Solla, Paolo; Cannas, A.; Floris, G.; Murru, M. R.; Corongiu, D.; Tranquilli, Stefania; Cuccu, S.; Rolesu, M.; 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 | - | - |
| 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 | - | - |
| 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 | - |
| 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 | - | - |
| 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. | - | - |
| 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 | - |
| 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. | - | - |
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