BERTI, GIANNA

BERTI, GIANNA  

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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 -