CASARI, GIORGIO NEVIO
CASARI, GIORGIO NEVIO
Facoltà di Medicina e Chirurgia
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION
1994-01-01 Bianchi, G; Tripodi, G; Casari, GIORGIO NEVIO; Salardi, S; Barber, Br; Garcia, R; Leoni, P; Torielli, L; Cusi, D; Ferrandi, M; Pinna, La; Baralle, Fe; Ferrari, P.
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY
2016-01-01 Previtali, Sc; Fabrizi, Gm; Manganelli, F; Mazzeo, A; Pareyson, D; Schenone, A; Taroni, F; Vita, G; Bellone, E; Ferrarini, M; Magri, S; Scarlato, M; Riva, N; Lunetta, C; Carrera, P; Bucci, G; Mandich, P; Penco, S; Lazarevic, D; Cittaro, D; Jordanova, A; Reilly, Mm; Casari, GIORGIO NEVIO; Ferrari, M; Comi, Giancarlo; Bolino, A.
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
2020-01-01 Casanova, J. -L.; Su, H. C.; Abel, L.; Aiuti, A.; Almuhsen, S.; Arias, A. A.; Bastard, P.; Biggs, C.; Bogunovic, D.; Boisson, B.; Boisson-Dupuis, S.; Bolze, A.; Bondarenko, A.; Bousfiha, A.; Brodin, P.; Bustamante, J.; Butte, M.; Casari, G.; Ciancanelli, M.; Cobat, A.; Condino-Neto, A.; Cooper, M.; Dalgard, C.; Espinosa, S.; Feldman, H.; Fellay, J.; Franco, J. L.; Hagin, D.; Itan, Y.; Jouanguy, E.; Lucas, C.; Mansouri, D.; Meyts, I.; Milner, J.; Mogensen, T.; Morio, T.; Ng, L.; Notarangelo, L. D.; Okada, S.; Ozcelik, T.; Palacin, P. S.; Planas, A.; Prando, C.; Puel, A.; Pujol, A.; Redin, C.; Renia, L.; Rodriguez Gallego, J. C.; Quintana-Murci, L.; Sancho-Shimizu, V.; Sankaran, V.; Seppanen, M. R. J.; Shahrooei, M.; Snow, A.; Spaan, A.; Tangye, S.; Tur, J. P.; Turvey, S.; Vinh, D. C.; von Bernuth, H.; Wang, X.; Zawadzki, P.; Zhang, Q.; Zhang, S.
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q
2005-01-01 Volpato, Cb; Buffone, E; De Grandi, A; Tezzon, F; Casari, GIORGIO NEVIO; Pramstaller, Pp
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
2002-01-01 Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Caracciolo, M; Casari, GIORGIO NEVIO; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A.
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
2001-01-01 Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Casari, GIORGIO NEVIO; Ardito, B; Lastilla, M; Mangone, L; Gambardella, A; Quattrone, A.
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17
1999-01-01 Filla, A; Bruni, A; Terme, L; De Michele, G; Volpe, G; Coppola, G; Salvatore, E; Calabrese, O; Castaldo, I; Casari, GIORGIO NEVIO; Ballabio, A; Caruso, G; Cocozza, S.
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021-01-01 Elke de, Boer; Charlotte W., Ockeloen; Leslie Matalonga Rita, Horvath; Solve-RD SNV-indel working, Group; Richard J., Rodenburg; Marieke J. H., Coenen; Mirian, Janssen; Dylan, Henssen; Christian, Gilissen; Wouter, Steyaert; Ida, Paramonov; Solve-RD-DITF-ITHACA, ; Aurélien, Trimouille; Tjitske, Kleefstra; Alain, Verloes; Lisenka E. L. M., Vissers; Casari, G
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2
2004-01-01 Striano, P; Chifari, R; Striano, S; de Fusco, M; Elia, M; Guerrini, R; Casari, GIORGIO NEVIO; Canevini, Mp
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1
2000-01-01 Gambardella, A; Annesi, G; De Fusco, M; Patrignani, A; Aguglia, U; Annesi, F; Pasqua, Aa; Spadafora, P; Oliveri, Rl; Valentino, P; Zappia, M; Ballabio, A; Casari, GIORGIO NEVIO; Quattrone, A.
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
1998-01-01 De Michele, G; De Fusco, M; Cavalcanti, F; Filla, A; Marconi, R; Volpe, G; Monticelli, A; Ballabio, A; Casari, GIORGIO NEVIO; Cocozza, S.
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON
1994-01-01 Caputi, M; Casari, GIORGIO NEVIO; Guenzi, S; Tagliabue, R; Sidoli, A; Melo, Ca; Baralle, Fe
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
2004-01-01 Bassi, Mt; Bresolin, N; Tonelli, A; Nazos, K; Crippa, F; Baschirotto, C; Zucca, C; Bersano, A; Dolcetta, D; Boneschi, Fm; Barone, V; Casari, GIORGIO NEVIO
A novel truncated form of eNOS associates with altered vascular function
2014-01-01 Galluccio, E; Cassina, L; Russo, I; Gelmini, F; Setola, E; Rampoldi, L; Citterio, L; Rossodivita, A; Kamami, M; Colombo, A; Alfieri, Ottavio; Carini, M; Bosi, Emanuele; Trovati, M; Piatti, P; Monti, Ld; Casari, GIORGIO NEVIO
A recessive variant of the Romano-Ward Long-QT syndrome?
1998-01-01 Priori, Sg; Schwartz, Pj; Napolitano, C; Bianchi, L; Dennis, A; De Fusco, M; Brown, Am; Casari, GIORGIO NEVIO
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine
2003-01-01 Casari, G; De Fusco, M; Aridon, P; Silvestri, L; Atorino, L; Rampoldi, L; Ballabio, A; Marconi, R
A thiazide test for the diagnosis of renal tubular hypokalemic disorders
2007-01-01 Colussi, G; Bettinelli, A; Tedeschi, S; De Ferrari, Me; Syren, Ml; Borsa, N; Mattiello, C; Casari, GIORGIO NEVIO; Bianchetti, Mg
A TRAPPC6B splicing variant associates to restless legs syndrome
2016-01-01 Aridon, Paolo; De Fusco, Maurizio; Winkelmann, Juliane W.; Zucconi, Marco; Arnao, Valentina; FERINI STRAMBI, Luigi; Casari, GIORGIO NEVIO
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome
2024-01-01 Chimienti, R.; Torchio, S.; Siracusano, G.; Zamarian, V.; Monaco, L.; Lombardo, M. T.; Pellegrini, S.; Manenti, F.; Cuozzo, F.; Rossi, G.; Carrera, P.; Sordi, V.; Broccoli, V.; Bonfanti, R.; Casari, G.; Frontino, G.; Piemonti, L.
Aldosterone influences serum magnesium in Gitelman syndrome
2000-01-01 Bettinelli, A; Consonni, D; Bianchetti, Mg; Colussi, G; Casari, GIORGIO NEVIO
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION | 1-gen-1994 | Bianchi, G; Tripodi, G; Casari, GIORGIO NEVIO; Salardi, S; Barber, Br; Garcia, R; Leoni, P; Torielli, L; Cusi, D; Ferrandi, M; Pinna, La; Baralle, Fe; Ferrari, P. | |
| A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY | 1-gen-2016 | Previtali, Sc; Fabrizi, Gm; Manganelli, F; Mazzeo, A; Pareyson, D; Schenone, A; Taroni, F; Vita, G; Bellone, E; Ferrarini, M; Magri, S; Scarlato, M; Riva, N; Lunetta, C; Carrera, P; Bucci, G; Mandich, P; Penco, S; Lazarevic, D; Cittaro, D; Jordanova, A; Reilly, Mm; Casari, GIORGIO NEVIO; Ferrari, M; Comi, Giancarlo; Bolino, A. | |
| A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection | 1-gen-2020 | Casanova, J. -L.; Su, H. C.; Abel, L.; Aiuti, A.; Almuhsen, S.; Arias, A. A.; Bastard, P.; Biggs, C.; Bogunovic, D.; Boisson, B.; Boisson-Dupuis, S.; Bolze, A.; Bondarenko, A.; Bousfiha, A.; Brodin, P.; Bustamante, J.; Butte, M.; Casari, G.; Ciancanelli, M.; Cobat, A.; Condino-Neto, A.; Cooper, M.; Dalgard, C.; Espinosa, S.; Feldman, H.; Fellay, J.; Franco, J. L.; Hagin, D.; Itan, Y.; Jouanguy, E.; Lucas, C.; Mansouri, D.; Meyts, I.; Milner, J.; Mogensen, T.; Morio, T.; Ng, L.; Notarangelo, L. D.; Okada, S.; Ozcelik, T.; Palacin, P. S.; Planas, A.; Prando, C.; Puel, A.; Pujol, A.; Redin, C.; Renia, L.; Rodriguez Gallego, J. C.; Quintana-Murci, L.; Sancho-Shimizu, V.; Sankaran, V.; Seppanen, M. R. J.; Shahrooei, M.; Snow, A.; Spaan, A.; Tangye, S.; Tur, J. P.; Turvey, S.; Vinh, D. C.; von Bernuth, H.; Wang, X.; Zawadzki, P.; Zhang, Q.; Zhang, S. | |
| A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q | 1-gen-2005 | Volpato, Cb; Buffone, E; De Grandi, A; Tezzon, F; Casari, GIORGIO NEVIO; Pramstaller, Pp | |
| A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 | 1-gen-2002 | Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Caracciolo, M; Casari, GIORGIO NEVIO; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A. | |
| A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. | 1-gen-2001 | Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Casari, GIORGIO NEVIO; Ardito, B; Lastilla, M; Mangone, L; Gambardella, A; Quattrone, A. | |
| A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 | 1-gen-1999 | Filla, A; Bruni, A; Terme, L; De Michele, G; Volpe, G; Coppola, G; Salvatore, E; Calabrese, O; Castaldo, I; Casari, GIORGIO NEVIO; Ballabio, A; Caruso, G; Cocozza, S. | |
| A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis | 1-gen-2021 | Elke de, Boer; Charlotte W., Ockeloen; Leslie Matalonga Rita, Horvath; Solve-RD SNV-indel working, Group; Richard J., Rodenburg; Marieke J. H., Coenen; Mirian, Janssen; Dylan, Henssen; Christian, Gilissen; Wouter, Steyaert; Ida, Paramonov; Solve-RD-DITF-ITHACA, ; Aurélien, Trimouille; Tjitske, Kleefstra; Alain, Verloes; Lisenka E. L. M., Vissers; Casari, G | |
| A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 | 1-gen-2004 | Striano, P; Chifari, R; Striano, S; de Fusco, M; Elia, M; Guerrini, R; Casari, GIORGIO NEVIO; Canevini, Mp | |
| A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 | 1-gen-2000 | Gambardella, A; Annesi, G; De Fusco, M; Patrignani, A; Aguglia, U; Annesi, F; Pasqua, Aa; Spadafora, P; Oliveri, Rl; Valentino, P; Zappia, M; Ballabio, A; Casari, GIORGIO NEVIO; Quattrone, A. | |
| A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 | 1-gen-1998 | De Michele, G; De Fusco, M; Cavalcanti, F; Filla, A; Marconi, R; Volpe, G; Monticelli, A; Ballabio, A; Casari, GIORGIO NEVIO; Cocozza, S. | |
| A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON | 1-gen-1994 | Caputi, M; Casari, GIORGIO NEVIO; Guenzi, S; Tagliabue, R; Sidoli, A; Melo, Ca; Baralle, Fe | |
| A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood | 1-gen-2004 | Bassi, Mt; Bresolin, N; Tonelli, A; Nazos, K; Crippa, F; Baschirotto, C; Zucca, C; Bersano, A; Dolcetta, D; Boneschi, Fm; Barone, V; Casari, GIORGIO NEVIO | |
| A novel truncated form of eNOS associates with altered vascular function | 1-gen-2014 | Galluccio, E; Cassina, L; Russo, I; Gelmini, F; Setola, E; Rampoldi, L; Citterio, L; Rossodivita, A; Kamami, M; Colombo, A; Alfieri, Ottavio; Carini, M; Bosi, Emanuele; Trovati, M; Piatti, P; Monti, Ld; Casari, GIORGIO NEVIO | |
| A recessive variant of the Romano-Ward Long-QT syndrome? | 1-gen-1998 | Priori, Sg; Schwartz, Pj; Napolitano, C; Bianchi, L; Dennis, A; De Fusco, M; Brown, Am; Casari, GIORGIO NEVIO | |
| A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine | 1-gen-2003 | Casari, G; De Fusco, M; Aridon, P; Silvestri, L; Atorino, L; Rampoldi, L; Ballabio, A; Marconi, R | |
| A thiazide test for the diagnosis of renal tubular hypokalemic disorders | 1-gen-2007 | Colussi, G; Bettinelli, A; Tedeschi, S; De Ferrari, Me; Syren, Ml; Borsa, N; Mattiello, C; Casari, GIORGIO NEVIO; Bianchetti, Mg | |
| A TRAPPC6B splicing variant associates to restless legs syndrome | 1-gen-2016 | Aridon, Paolo; De Fusco, Maurizio; Winkelmann, Juliane W.; Zucconi, Marco; Arnao, Valentina; FERINI STRAMBI, Luigi; Casari, GIORGIO NEVIO | |
| A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome | 1-gen-2024 | Chimienti, R.; Torchio, S.; Siracusano, G.; Zamarian, V.; Monaco, L.; Lombardo, M. T.; Pellegrini, S.; Manenti, F.; Cuozzo, F.; Rossi, G.; Carrera, P.; Sordi, V.; Broccoli, V.; Bonfanti, R.; Casari, G.; Frontino, G.; Piemonti, L. | |
| Aldosterone influences serum magnesium in Gitelman syndrome | 1-gen-2000 | Bettinelli, A; Consonni, D; Bianchetti, Mg; Colussi, G; Casari, GIORGIO NEVIO |