FABRIZI, Gian Maria
FABRIZI, Gian Maria
DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
2001-01-01 Rampoldi, L.; Dobson-Stone, C.; Rubio, J. P.; Danek, A.; Chalmers, R. M.; Wood, N. W.; Verellen, C.; Ferrer, X.; Malandrini, A.; Fabrizi, G. M.; Brown, R.; Vance, J.; Pericak-Vance, M.; Rudolf, G.; Carre, S.; Alonso, E.; Manfredi, M.; Nemeth, A. H.; Monaco, A. P.
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.
1989-01-01 Rizzuto, R.; Nakase, H.; Darras, B.; Francke, U.; Fabrizi, Gian Maria; Mengel, T.; Walsh, F.; Kadenback, B.; Dimauro, S.; Schon, E. A.
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]
2006-01-01 Pareyson, D; Schenone, A; Fabrizi, Gian Maria; Santoro, L; Padua, L; Quattrone, A; Vita, G; Gemignani, F; Visioli, F; Solari, A.
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs.
2011-01-01 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.
2010-01-01 Luigetti, M.; Fabrizi, Gian Maria; Madia, F.; Ferrarini, Moreno; Conte, A.; Del Grande, A.; Tasca, G.; Tonali, P. A.; Sabatelli, M.
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.
2014-01-01 Luigetti, M.; Fabrizi, Gian Maria; Taioli, Federica; Del Grande, A.; Lo Monaco, M.
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization
2007-01-01 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.
2014-01-01 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.
2013-01-01 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
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B
2001-01-01 Fabrizi, G. M.; Ferrarini, M.; Cavallaro, T.; Jarre, L.; Polo, A.; Rizzuto, N.
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis
2021-01-01 Boso, Federica; Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Fabrizi, Gian Maria
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
1996-01-01 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)
2021-01-01 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.
2010-01-01 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
1995-01-01 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
2004-01-01 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
2023-01-01 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
2019-01-01 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.
2011-01-01 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
2022-01-01 Azzimonti, Matteo; Fazio, Raffaella; Giordano, Antonino; Tagliapietra, Matteo; Ferrarini, Moreno; Rocca, Maria Assunta; Fabrizi, Gian Maria; Filippi, Massimo; Colombo, Bruno
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A conserved sorting-associated protein is mutant in chorea-acanthocytosis | 1-gen-2001 | Rampoldi, L.; Dobson-Stone, C.; Rubio, J. P.; Danek, A.; Chalmers, R. M.; Wood, N. W.; Verellen, C.; Ferrer, X.; Malandrini, A.; Fabrizi, G. M.; Brown, R.; Vance, J.; Pericak-Vance, M.; Rudolf, G.; Carre, S.; Alonso, E.; Manfredi, M.; Nemeth, A. H.; Monaco, A. P. | |
| 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 multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27] | 1-gen-2006 | Pareyson, D; Schenone, A; Fabrizi, Gian Maria; Santoro, L; Padua, L; Quattrone, A; Vita, G; Gemignani, F; Visioli, F; Solari, 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 LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. | 1-gen-2014 | Luigetti, M.; Fabrizi, Gian Maria; Taioli, Federica; Del Grande, A.; Lo Monaco, 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 | |
| A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B | 1-gen-2001 | Fabrizi, G. M.; Ferrarini, M.; Cavallaro, T.; Jarre, L.; Polo, A.; Rizzuto, N. | |
| 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-2023 | 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 |