FERRARINI, Moreno
FERRARINI, Moreno
DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO
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 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 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.
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.
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
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study.
2009-01-01 Mazzucco, Sara; Anzola, G. P.; Ferrarini, Moreno; Taioli, Federica; Olivato, S.; Burlina, A. P.; Fabrizi, Gian Maria; Rizzuto, Nicolo'
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
2015-01-01 Stancanelli, C.; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Taioli, Federica; Di Leo, R.; Russo, M.; Gentile, L.; Toscano, A.; Vita, G.; Mazzeo, A.
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center
2020-01-01 Gentile, Luca; Russo, Massimo; Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Testi, Silvia; Alfonzo, Annalisa; Aguennouz, M'Hammed; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
2016-01-01 Luigetti, Marco; Fabrizi, Gian Maria; Bisogni, Giulia; Romano, Angela; Taioli, Federica; Ferrarini, Moreno; Bernardo, Daniela; Rossini, Paolo Maria; Sabatelli, Mario
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome
2023-01-01 Tagliapietra, Matteo; Incensi, Alex; Ferrarini, Moreno; Mesiano, Nazarena; Furia, Alessandro; Rizzo, Giovanni; Liguori, Rocco; Cavallaro, Tiziana; Monaco, Salvatore; Fabrizi, Gian Maria; Donadio, Vincenzo
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry
2023-01-01 Pisciotta, Chiara; Bertini, Alessandro; Tramacere, Irene; Manganelli, Fiore; Fabrizi, Gian Maria; Schenone, Angelo; Tozza, Stefano; Cavallaro, Tiziana; Taioli, Federica; Ferrarini, Moreno; Grandis, Marina; Bellone, Emilia; Mandich, Paola; Previtali, Stefano C; Falzone, Yuri; Allegri, Isabella; Padua, Luca; Pazzaglia, Costanza; Quattrone, Aldo; Valentino, Paola; Gentile, Luca; Russo, Massimo; Calabrese, Daniela; Moroni, Isabella; Pagliano, Emanuela; Saveri, Paola; Magri, Stefania; Baratta, Silvia; Taroni, Franco; Mazzeo, Anna; Santoro, Lucio; Vita, Giuseppe; Pareyson, Davide
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I
2019-01-01 Boso, Federica; Armirotti, Andrea; Taioli, Federica; Ferrarini, Moreno; Nobbio, Lucilla; Cavallaro, Tiziana; Fabrizi, Gian Maria
Expanding the spectrum of genes responsible for hereditary motor neuropathies
2019-01-01 Previtali, Stefano C; Zhao, Edward; Lazarevic, Dejan; Pipitone, Giovanni Battista; Fabrizi, Gian Maria; Manganelli, Fiore; Mazzeo, Anna; Pareyson, Davide; Schenone, Angelo; Taroni, Franco; Vita, Giuseppe; Bellone, Emilia; Ferrarini, Moreno; Garibaldi, Matteo; Magri, Stefania; Padua, Luca; Pennisi, Elena; Pisciotta, Chiara; Riva, Nilo; Scaioli, Vidmer; Scarlato, Marina; Tozza, Stefano; Geroldi, Alessandro; Jordanova, Albena; Ferrari, Maurizio; Molineris, Ivan; Reilly, Mary M; Comi, Giancarlo; Carrera, Paola; Devoto, Marcella; Bolino, Alessandra
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
2004-01-01 Fabrizi, G. M.; Cavallaro, T.; Angiari, C.; Bertolasi, L.; Cabrini, I.; Ferrarini, M.; Rizzuto, N.
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants
2005-01-01 Fontanini, A; Chies, R; Snapp, El; Ferrarini, Moreno; Fabrizi, Gian Maria; Brancolini, C.
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation
2004-01-01 Capasso, M.; Di Muzio, A.; Ferrarini, M.; De Angelis, M. V.; Caporale, C. M.; Lupo, S.; Cavallaro, T.; Fabrizi, G. M.; Uncini, A.
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare.
2009-01-01 Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Cabrini, Ilaria; Testi, Silvia; Cavallaro, Tiziana; Rizzuto, Nicolo'
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
2012-01-01 Testi, Silvia; Malerba, Giovanni; Ferrarini, Moreno; Ragno, M.; Pradotto, L.; Mauro, A.; Fabrizi, Gian Maria
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A
2019-01-01 Zanette, Giampietro; Tamburin, Stefano; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Fabrizi, Gian Maria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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. | |
| 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. | |
| 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 | |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. | 1-gen-2009 | Mazzucco, Sara; Anzola, G. P.; Ferrarini, Moreno; Taioli, Federica; Olivato, S.; Burlina, A. P.; Fabrizi, Gian Maria; Rizzuto, Nicolo' | |
| Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. | 1-gen-2015 | Stancanelli, C.; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Taioli, Federica; Di Leo, R.; Russo, M.; Gentile, L.; Toscano, A.; Vita, G.; Mazzeo, A. | |
| Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center | 1-gen-2020 | Gentile, Luca; Russo, Massimo; Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Testi, Silvia; Alfonzo, Annalisa; Aguennouz, M'Hammed; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna | |
| Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience | 1-gen-2016 | Luigetti, Marco; Fabrizi, Gian Maria; Bisogni, Giulia; Romano, Angela; Taioli, Federica; Ferrarini, Moreno; Bernardo, Daniela; Rossini, Paolo Maria; Sabatelli, Mario | |
| Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome | 1-gen-2023 | Tagliapietra, Matteo; Incensi, Alex; Ferrarini, Moreno; Mesiano, Nazarena; Furia, Alessandro; Rizzo, Giovanni; Liguori, Rocco; Cavallaro, Tiziana; Monaco, Salvatore; Fabrizi, Gian Maria; Donadio, Vincenzo | |
| Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry | 1-gen-2023 | Pisciotta, Chiara; Bertini, Alessandro; Tramacere, Irene; Manganelli, Fiore; Fabrizi, Gian Maria; Schenone, Angelo; Tozza, Stefano; Cavallaro, Tiziana; Taioli, Federica; Ferrarini, Moreno; Grandis, Marina; Bellone, Emilia; Mandich, Paola; Previtali, Stefano C; Falzone, Yuri; Allegri, Isabella; Padua, Luca; Pazzaglia, Costanza; Quattrone, Aldo; Valentino, Paola; Gentile, Luca; Russo, Massimo; Calabrese, Daniela; Moroni, Isabella; Pagliano, Emanuela; Saveri, Paola; Magri, Stefania; Baratta, Silvia; Taroni, Franco; Mazzeo, Anna; Santoro, Lucio; Vita, Giuseppe; Pareyson, Davide | |
| Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I | 1-gen-2019 | Boso, Federica; Armirotti, Andrea; Taioli, Federica; Ferrarini, Moreno; Nobbio, Lucilla; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| Expanding the spectrum of genes responsible for hereditary motor neuropathies | 1-gen-2019 | Previtali, Stefano C; Zhao, Edward; Lazarevic, Dejan; Pipitone, Giovanni Battista; Fabrizi, Gian Maria; Manganelli, Fiore; Mazzeo, Anna; Pareyson, Davide; Schenone, Angelo; Taroni, Franco; Vita, Giuseppe; Bellone, Emilia; Ferrarini, Moreno; Garibaldi, Matteo; Magri, Stefania; Padua, Luca; Pennisi, Elena; Pisciotta, Chiara; Riva, Nilo; Scaioli, Vidmer; Scarlato, Marina; Tozza, Stefano; Geroldi, Alessandro; Jordanova, Albena; Ferrari, Maurizio; Molineris, Ivan; Reilly, Mary M; Comi, Giancarlo; Carrera, Paola; Devoto, Marcella; Bolino, Alessandra | |
| Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E | 1-gen-2004 | Fabrizi, G. M.; Cavallaro, T.; Angiari, C.; Bertolasi, L.; Cabrini, I.; Ferrarini, M.; Rizzuto, N. | |
| Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants | 1-gen-2005 | Fontanini, A; Chies, R; Snapp, El; Ferrarini, Moreno; Fabrizi, Gian Maria; Brancolini, C. | |
| Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation | 1-gen-2004 | Capasso, M.; Di Muzio, A.; Ferrarini, M.; De Angelis, M. V.; Caporale, C. M.; Lupo, S.; Cavallaro, T.; Fabrizi, G. M.; Uncini, A. | |
| Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. | 1-gen-2009 | Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Cabrini, Ilaria; Testi, Silvia; Cavallaro, Tiziana; Rizzuto, Nicolo' | |
| Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | 1-gen-2012 | Testi, Silvia; Malerba, Giovanni; Ferrarini, Moreno; Ragno, M.; Pradotto, L.; Mauro, A.; Fabrizi, Gian Maria | |
| Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A | 1-gen-2019 | Zanette, Giampietro; Tamburin, Stefano; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Fabrizi, Gian Maria |