BERTI, GIANNA
BERTI, GIANNA
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
2007-01-01 Cardaioli, Elena; DA POZZO, Paola; Gallus, GIAN NICOLA; Malandrini, Alessandro; Gambelli, S; Gaudiano, C; Malfatti, E; Viscomi, C; Zicari, E; Berti, Gianna; Serni, Giovanni; Dotti, Maria; Federico, Antonio
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course.
2004-01-01 Malandrini, Alessandro; Luchini, D.; Gambelli, S.; Gaudiano, C.; Berti, Gianna; Salvadori, Claudio; Serni, Giovanni; Valassina, M.; Federico, Antonio; DI PAOLO, M.
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia.
2004-01-01 Gambelli, S; Ginanneschi, Federica; Malandrini, Alessandro; Palmeri, Silvia; Berti, Gianna; Desiderio, P; Bellussi, LUISA MARIA; Maria, Pf; Rossi, Alessandro
Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases
2000-01-01 Malandrini, Alessandro; Selvi, E; Villanova, M; Berti, Gianna; Sabadini, L; Salvadori, Claudio; Gambelli, S; DE STEFANO, R; Vernillo, Remo; Marcolongo, FILIPPO ROBERTO; Guazzi, Gc
Diagnostic value of ultrastructural skin biopsy studies in CADASIL.
2007-01-01 Malandrini, Alessandro; Gaudiano, C; Gambelli, S; Berti, Gianna; Serni, Giovanni; Bianchi, Silvia; Federico, Antonio; Dotti, Maria
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.
2013-01-01 Malandrini, Alessandro; Rubegni, Anna; Battisti, Carla; Berti, Gianna; Federico, Antonio
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
2017-01-01 Barone, Virginia; DEL RE, Valeria; Gamberucci, Alessandra; Polverino, Valentina; Galli, Lucia; Rossi, Daniela; Costanzi, Elisa; Toniolo, Luana; Berti, Gianna; Malandrini, Alessandro; Ricci, Giulia; Siciliano, Gabriele; Vattemi, Gaetano; Tomelleri, Giuliano; Pierantozzi, Enrico; Spinozzi, Simone; Volpi, Nila; Fulceri, Rosella; Battistutta, Roberto; Reggiani, Carlo; Sorrentino, Vincenzo
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils.
2006-01-01 Gambelli, S; Dotti, Maria; Malandrini, Alessandro; Berti, Gianna; Serni, Giovanni; Federico, Antonio
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1
2007-01-01 Gambelli, S.; Malandrini, A.; Berti, G.; Gaudiano, C.; Zicari, E.; Brunori, P.; Perticoni, G.; Orrico, A.; Galli, L.; Sorrentino, V.; Lunardi, J.; Federico, A.; Dotti, M. T.
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
2016-01-01 Borgione, Eugenia; Castello, Filippa; Lo Giudice, Mariangela; Santa Paola, Sandro; Salvatore, Simona; Berti, Gianna; Malandrini, Alessandro; Bottitta, Maria; Musumeci, Sebastiano Antonino; Scuderi, Carmela
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report.
1998-01-01 Malandrini, Alessandro; Palmeri, Silvia; Fabrizi, Gm; Villanova, M; Berti, Gianna; Salvadori, Claudio; Gardini, G; Motti, L; Solimé, F; Guazzi, G. C.
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.
2004-01-01 Gambelli, S.; Malandrini, Alessandro; Ginanneschi, Federica; Berti, Gianna; Cardaioli, Elena; DE STEFANO, R.; Franci, M.; Salvadori, Claudio; Mari, Francesca; Bruttini, F.; Rossi, Alessandro; Federico, Antonio; Renieri, Alessandra
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
2008-01-01 Malandrini, Alessandro; Gambelli, S; Muglia, M; Berti, Gianna; Gaudiano, C; Patitucci, A; Sugie, K; Umehara, F; Quattrone, A; Dotti, Maria; Federico, Antonio
Neuronal intranuclear inclusion disease: neuropathologic study of a case.
1998-01-01 Malandrini, Alessandro; Villanova, M; Tripodi, S; Palmeri, Silvia; Sicurelli, F; Parrotta, E; Berti, Gianna; Salvadori, Claudio; Cintorino, M; Guazzi, G. C.
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case
1996-01-01 Malandrini, Alessandro; Fabrizi, Gm; Cavallaro, T; Zazzi, Maurizio; Parrotta, E; Romano, Laura; Berti, Gianna; Villanova, MARCELLO PASQUALE; Guazzi, Giancarlo
Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt
2001-01-01 Malandrini, Alessandro; Villanova, MARCELLO PASQUALE; Salvadori, Claudio; Gambelli, Simona; Berti, Gianna; Di Paolo, M.
Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
2013-01-01 Malandrini, Alessandro; D'Eramo, Camilla; Palmeri, Silvia; Gaudiano, C; Gambelli, S; Sicurelli, F; Berti, Gianna; Formichi, Patrizia; Kuqo, A; Dotti, Maria; Federico, Antonio
Ultrastructural findings in the peripheral nerve ina family with the intermediate form of Charcot-Marie-Tooth disease
2001-01-01 Malandrini, Alessandro; M., Villanova; C., Ceuterick; S., Gambelli; Berti, Gianna; Rossi, Alessandro; G. C., Guazzi
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. | 1-gen-2007 | Cardaioli, Elena; DA POZZO, Paola; Gallus, GIAN NICOLA; Malandrini, Alessandro; Gambelli, S; Gaudiano, C; Malfatti, E; Viscomi, C; Zicari, E; Berti, Gianna; Serni, Giovanni; Dotti, Maria; Federico, Antonio | - | |
| A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course. | 1-gen-2004 | Malandrini, Alessandro; Luchini, D.; Gambelli, S.; Gaudiano, C.; Berti, Gianna; Salvadori, Claudio; Serni, Giovanni; Valassina, M.; Federico, Antonio; DI PAOLO, M. | - | |
| Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia. | 1-gen-2004 | Gambelli, S; Ginanneschi, Federica; Malandrini, Alessandro; Palmeri, Silvia; Berti, Gianna; Desiderio, P; Bellussi, LUISA MARIA; Maria, Pf; Rossi, Alessandro | - | |
| Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases | 1-gen-2000 | Malandrini, Alessandro; Selvi, E; Villanova, M; Berti, Gianna; Sabadini, L; Salvadori, Claudio; Gambelli, S; DE STEFANO, R; Vernillo, Remo; Marcolongo, FILIPPO ROBERTO; Guazzi, Gc | - | |
| Diagnostic value of ultrastructural skin biopsy studies in CADASIL. | 1-gen-2007 | Malandrini, Alessandro; Gaudiano, C; Gambelli, S; Berti, Gianna; Serni, Giovanni; Bianchi, Silvia; Federico, Antonio; Dotti, Maria | - | |
| Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. | 1-gen-2013 | Malandrini, Alessandro; Rubegni, Anna; Battisti, Carla; Berti, Gianna; Federico, Antonio | - | |
| Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy | 1-gen-2017 | Barone, Virginia; DEL RE, Valeria; Gamberucci, Alessandra; Polverino, Valentina; Galli, Lucia; Rossi, Daniela; Costanzi, Elisa; Toniolo, Luana; Berti, Gianna; Malandrini, Alessandro; Ricci, Giulia; Siciliano, Gabriele; Vattemi, Gaetano; Tomelleri, Giuliano; Pierantozzi, Enrico; Spinozzi, Simone; Volpi, Nila; Fulceri, Rosella; Battistutta, Roberto; Reggiani, Carlo; Sorrentino, Vincenzo | - | |
| Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. | 1-gen-2006 | Gambelli, S; Dotti, Maria; Malandrini, Alessandro; Berti, Gianna; Serni, Giovanni; Federico, Antonio | - | |
| Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 | 1-gen-2007 | Gambelli, S.; Malandrini, A.; Berti, G.; Gaudiano, C.; Zicari, E.; Brunori, P.; Perticoni, G.; Orrico, A.; Galli, L.; Sorrentino, V.; Lunardi, J.; Federico, A.; Dotti, M. T. | - | |
| Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? | 1-gen-2016 | Borgione, Eugenia; Castello, Filippa; Lo Giudice, Mariangela; Santa Paola, Sandro; Salvatore, Simona; Berti, Gianna; Malandrini, Alessandro; Bottitta, Maria; Musumeci, Sebastiano Antonino; Scuderi, Carmela | - | |
| Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report. | 1-gen-1998 | Malandrini, Alessandro; Palmeri, Silvia; Fabrizi, Gm; Villanova, M; Berti, Gianna; Salvadori, Claudio; Gardini, G; Motti, L; Solimé, F; Guazzi, G. C. | - | |
| Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. | 1-gen-2004 | Gambelli, S.; Malandrini, Alessandro; Ginanneschi, Federica; Berti, Gianna; Cardaioli, Elena; DE STEFANO, R.; Franci, M.; Salvadori, Claudio; Mari, Francesca; Bruttini, F.; Rossi, Alessandro; Federico, Antonio; Renieri, Alessandra | - | |
| Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis. | 1-gen-2008 | Malandrini, Alessandro; Gambelli, S; Muglia, M; Berti, Gianna; Gaudiano, C; Patitucci, A; Sugie, K; Umehara, F; Quattrone, A; Dotti, Maria; Federico, Antonio | - | |
| Neuronal intranuclear inclusion disease: neuropathologic study of a case. | 1-gen-1998 | Malandrini, Alessandro; Villanova, M; Tripodi, S; Palmeri, Silvia; Sicurelli, F; Parrotta, E; Berti, Gianna; Salvadori, Claudio; Cintorino, M; Guazzi, G. C. | - | |
| Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case | 1-gen-1996 | Malandrini, Alessandro; Fabrizi, Gm; Cavallaro, T; Zazzi, Maurizio; Parrotta, E; Romano, Laura; Berti, Gianna; Villanova, MARCELLO PASQUALE; Guazzi, Giancarlo | - | |
| Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt | 1-gen-2001 | Malandrini, Alessandro; Villanova, MARCELLO PASQUALE; Salvadori, Claudio; Gambelli, Simona; Berti, Gianna; Di Paolo, M. | - | |
| Peripheral neuropathy in late-onset Krabbe disease: report of three cases. | 1-gen-2013 | Malandrini, Alessandro; D'Eramo, Camilla; Palmeri, Silvia; Gaudiano, C; Gambelli, S; Sicurelli, F; Berti, Gianna; Formichi, Patrizia; Kuqo, A; Dotti, Maria; Federico, Antonio | - | |
| Ultrastructural findings in the peripheral nerve ina family with the intermediate form of Charcot-Marie-Tooth disease | 1-gen-2001 | Malandrini, Alessandro; M., Villanova; C., Ceuterick; S., Gambelli; Berti, Gianna; Rossi, Alessandro; G. C., Guazzi | - |