FABRIZI, Gian Maria

FABRIZI, Gian Maria  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. 1-gen-1989 Rizzuto, R.; Nakase, H.; Darras, B.; Francke, U.; Fabrizi, Gian Maria; Mengel, T.; Walsh, F.; Kadenback, B.; Dimauro, S.; Schon, E. A.
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 1-gen-2011 Luigetti, M.; Fabrizi, Gian Maria; Ranieri, F.; Taioli, Federica; Conte, A.; Del Grande, A.; Sabatelli, M.
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 1-gen-2010 Luigetti, M.; Fabrizi, Gian Maria; Madia, F.; Ferrarini, Moreno; Conte, A.; Del Grande, A.; Tasca, G.; Tonali, P. A.; Sabatelli, M.
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 1-gen-2007 Ferrarini, Moreno; Squintani, G.; Cavallaro, Tiziana; Ferrari, Sergio; Rizzuto, Nicolo'; Fabrizi, Gian Maria
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 1-gen-2014 Testi, Silvia; Peluso, S.; Fabrizi, Gian Maria; Antenora, A.; Russo, C. V.; Pappatà, S.; Padovani, A.; Ferrarini, Moreno; Filla, A.
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 1-gen-2013 van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Theuns, J; Engelborghs, S; Philtjens, S; Vandenbulcke, M; Sleegers, K; Sieben, A; Bäumer, V; Maes, G; Corsmit, E; Borroni, B; Padovani, A; Archetti, S; Perneczky, R; Diehl Schmid, J; de Mendonça, A; Miltenberger Miltenyi, G; Pereira, S; Pimentel, J; Nacmias, B; Bagnoli, S; Sorbi, S; Graff, C; Chiang, Hh; Westerlund, M; Sanchez Valle, R; Llado, A; Gelpi, E; Santana, I; Almeida, Mr; Santiago, B; Frisoni, G; Zanetti, O; Bonvicini, C; Synofzik, M; Maetzler, W; Vom Hagen, Jm; Schöls, L; Heneka, Mt; Jessen, F; Matej, R; Parobkova, E; Kovacs, Gg; Ströbel, T; Sarafov, S; Tournev, I; Jordanova, A; Danek, A; Arzberger, T; Fabrizi, Gian Maria; Testi, Silvia; Salmon, E; Santens, P; Martin, Jj; Cras, P; Vandenberghe, R; De Deyn, Pp; Cruts, M; Van Broeckhoven, C; on behalf of the European Early Onset Dementia, Consortium
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERFF syndrome. 1-gen-1996 Fabrizi, Gian Maria; Cardaioli, E.; Grieco, G. S.; Cavallaro, Tiziana; Malandrini, A.; Manneschi, L.; Dotti, M. T.; Federico, A.; Guazzi, G. C.
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 1-gen-2021 Boso, Federica; Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Fabrizi, Gian Maria
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 1-gen-1996 Malandrini, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Anichini, M.; Guazzi, G. C.
Acute and chronic inflammatory neuropathies and COVID-19 vaccines: practical recommendations from the task force of the Italian Peripheral Nervous System Association (ASNP) 1-gen-2021 Doneddu, Pietro E; Spina, Emanuele; Briani, Chiara; Fabrizi, Gian Maria; Manganelli, Fiore; Nobile-Orazio, Eduardo
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 1-gen-2010 Briani, C.; Taioli, Federica; Lucchetta, M.; Bombardi, R.; Fabrizi, Gian Maria
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 1-gen-1995 Rosi, R.; Stanca, A.; Monfregola, Mr; Malandrini, A.; Fabrizi, Gian Maria; Galluzzi, P.; Filosomi, G.
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 1-gen-2004 Frigerio, R.; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Brighina, L.; Santoro, P.; Agostoni, E.; Cavaletti, G.; Rizzuto, Nicolo'; Ferrarese, C.
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 1-gen-2022 Bellofatto, Marta; Bertini, Alessandro; Tramacere, Irene; Manganelli, Fiore; Fabrizi, Gian Maria; Schenone, Angelo; Santoro, Lucio; Cavallaro, Tiziana; Grandis, Marina; Previtali, Stefano C; Allegri, Isabella; Padua, Luca; Pazzaglia, Costanza; Calabrese, Daniela; Saveri, Paola; Quattrone, Aldo; Valentino, Paola; Tozza, Stefano; Gentile, Luca; Russo, Massimo; Mazzeo, Anna; Vita, Giuseppe; Piacentini, Sylvie; Pisciotta, Chiara; Pareyson, Davide
Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study 1-gen-2019 Pazzaglia, Costanza; Padua, Luca; Pareyson, Davide; Schenone, Angelo; Aiello, Alessia; Fabrizi, Gian Maria; Cavallaro, Tiziana; Santoro, Lucio; Manganelli, Fiore; Coraci, Daniele; Gemignani, Franco; Vitetta, Francesca; Quattrone, Aldo; Mazzeo, Anna; Russo, Massimo; Vita, Giuseppe
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 1-gen-2011 Pareyson, D.; Reilly, M. M.; Schenone, A.; Fabrizi, G. M.; Cavallaro, T.; Santoro, L.; Vita, G.; Quattrone, A.; Padua, L.; Gemignani, F.; Visioli, F.; Laurà, M.; Radice, D.; Calabrese, D.; Hughes, R. A.; Solari, A.
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 1-gen-2022 Azzimonti, Matteo; Fazio, Raffaella; Giordano, Antonino; Tagliapietra, Matteo; Ferrarini, Moreno; Rocca, Maria Assunta; Fabrizi, Gian Maria; Filippi, Massimo; Colombo, Bruno
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 1-gen-2020 Russo, Massimo; Obici, Laura; Bartolomei, Ilaria; Cappelli, Francesco; Luigetti, Marco; Fenu, Silvia; Cavallaro, Tiziana; Chiappini, Maria Grazia; Gemelli, Chiara; Pradotto, Luca Guglielmo; Manganelli, Fiore; Leonardi, Luca; My, Filomena; Sampaolo, Simone; Briani, Chiara; Gentile, Luca; Stancanelli, Claudia; Di Buduo, Eleonora; Pacciolla, Paolo; Salvi, Fabrizio; Casagrande, Silvia; Bisogni, Giulia; Calabrese, Daniela; Vanoli, Fiammetta; Di Iorio, Giuseppe; Antonini, Giovanni; Santoro, Lucio; Mauro, Alessandro; Grandis, Marina; Di Girolamo, Marco; Fabrizi, Gian Maria; Pareyson, Davide; Sabatelli, Mario; Perfetto, Federico; Rapezzi, Claudio; Merlini, Giampaolo; Mazzeo, Anna; Vita, Giuseppe
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. 1-gen-1994 Malandrini, A.; Fabrizi, G. M.; Truschi, F.; Di Pietro, G.; Moschini, F.; Bartalucci, P.; Berti, G.; Salvadori, C.; Bucalossi, A.; Guazzi, G. C.
Autonomic nervous system involvement in a new CMT2B family. 1-gen-2012 Manganelli, F.; Pisciotta, C.; Provitera, V.; Taioli, Federica; Iodice, R.; Topa, A.; Fabrizi, Gian Maria; Nolano, M.; Santoro, L.