Sfoglia per Autore
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.
2011-01-01 Cappellari, M.; Cavallaro, Tiziana; Ferrarini, Moreno; Cabrini, Ilaria; Taioli, Federica; Ferrari, Sergio; Merlini, G.; Obici, L.; Briani, C.; Fabrizi, Gian Maria
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
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
2012-01-01 Taioli, Federica; Bertolasi, Laura; Ajena, Domenico; Ferrarini, Moreno; Cabrini, Ilaria; Crestanello, A.; 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.
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 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
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review
2016-01-01 Opri, Roberta; Fabrizi, Gian Maria; Cantalupo, Gaetano; Ferrarini, Moreno; Simonati, Alessandro; DALLA BERNARDINA, Bernardo; Darra, Francesca
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study
2018-01-01 Fabrizi, Gian Maria; Tamburin, Stefano; Cavallaro, Tiziana; Cabrini, Ilaria; Ferrarini, Moreno; Taioli, Federica; Magrinelli, Francesca; Zanette, Giampietro
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs
2018-01-01 Zanette, Giampietro; Fabrizi, Gian Maria; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Tamburin, Stefano
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
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
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
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
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags
2020-01-01 Campagnolo, Marta; Taioli, Federica; Cacciavillani, Mario; Ruiz, Marta; Luigetti, Marco; Salvalaggio, Alessandro; Castellani, Francesca; Testi, Silvia; Ferrarini, Moreno; Cavallaro, Tiziana; Gasparotti, Roberto; Fabrizi, Gian Maria; Briani, Chiara
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
2021-01-01 Tagliapietra, Matteo; Cardellini, Davide; Ferrarini, Moreno; Testi, Silvia; Ferrari, Sergio; Monaco, Salvatore; Cavallaro, Tiziana; Fabrizi, Gian Maria
Rare among rare: phenotypes of uncommon CMT genotypes
2021-01-01 Gentile, Luca; Russo, Massimo; Taioli, Federica; Ferrarini, Moreno; Aguennouz, M'Hammed; Rodolico, Carmelo; Toscano, Antonio; Fabrizi, Gian Maria; Mazzeo, Anna
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. | 1-gen-2011 | Cappellari, M.; Cavallaro, Tiziana; Ferrarini, Moreno; Cabrini, Ilaria; Taioli, Federica; Ferrari, Sergio; Merlini, G.; Obici, L.; Briani, C.; Fabrizi, Gian Maria | |
| 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 | |
| Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. | 1-gen-2012 | Taioli, Federica; Bertolasi, Laura; Ajena, Domenico; Ferrarini, Moreno; Cabrini, Ilaria; Crestanello, A.; 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. | |
| 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 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 | |
| Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review | 1-gen-2016 | Opri, Roberta; Fabrizi, Gian Maria; Cantalupo, Gaetano; Ferrarini, Moreno; Simonati, Alessandro; DALLA BERNARDINA, Bernardo; Darra, Francesca | |
| The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study | 1-gen-2018 | Fabrizi, Gian Maria; Tamburin, Stefano; Cavallaro, Tiziana; Cabrini, Ilaria; Ferrarini, Moreno; Taioli, Federica; Magrinelli, Francesca; Zanette, Giampietro | |
| Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs | 1-gen-2018 | Zanette, Giampietro; Fabrizi, Gian Maria; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Tamburin, Stefano | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags | 1-gen-2020 | Campagnolo, Marta; Taioli, Federica; Cacciavillani, Mario; Ruiz, Marta; Luigetti, Marco; Salvalaggio, Alessandro; Castellani, Francesca; Testi, Silvia; Ferrarini, Moreno; Cavallaro, Tiziana; Gasparotti, Roberto; Fabrizi, Gian Maria; Briani, Chiara | |
| RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy | 1-gen-2021 | Tagliapietra, Matteo; Cardellini, Davide; Ferrarini, Moreno; Testi, Silvia; Ferrari, Sergio; Monaco, Salvatore; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| Rare among rare: phenotypes of uncommon CMT genotypes | 1-gen-2021 | Gentile, Luca; Russo, Massimo; Taioli, Federica; Ferrarini, Moreno; Aguennouz, M'Hammed; Rodolico, Carmelo; Toscano, Antonio; Fabrizi, Gian Maria; Mazzeo, Anna | |
| 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 | |
| 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 |
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