TAIOLI, Federica
TAIOLI, Federica
DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO
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 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.
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
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
Autonomic nervous system involvement in a new CMT2B family.
2012-01-01 Manganelli, F.; Pisciotta, C.; Provitera, V.; Taioli, Federica; Iodice, R.; Topa, A.; Fabrizi, Gian Maria; Nolano, M.; Santoro, L.
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy
2008-01-01 Briani, C.; Adami, F.; Cavallaro, Tiziana; Taioli, Federica; Ferrari, Sergio; Fabrizi, Gian Maria
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 type 2E, a disorder of the cytoskeleton.
2007-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Angiari, Chiara; Cabrini, Ilaria; Taioli, Federica; Malerba, Giovanni; Bertolasi, Laura; Rizzuto, Nicolo'
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
CIDP, CMT1B, or CMT1B plus CIDP?
2021-01-01 Cardellini, Davide; Zanette, Giampietro; Taioli, Federica; Bertolasi, Laura; Ferrari, Sergio; Cavallaro, Tiziana; Fabrizi, Gian Maria
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases
1998-01-01 Fabrizi, Gian Maria; Simonati, Alessandro; Morbin, M.; Cavallaro, T.; Taioli, Federica; Benedetti, M. D.; Edomi, P.; Rizzuto, Nicolo'
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation
2007-01-01 Ragno, M.; Cacchiò, G.; Fabrizi, Gian Maria; Scarcella, M.; Silvaggio, F.; Cavallaro, Tiziana; Taioli, Federica; Trojano, L.
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
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
2011-01-01 Luigetti, M.; Fabrizi, Gian Maria; Taioli, Federica; Conte, A.; Del Grande, A.; Sabatelli, M.
Congenital hypomyelination neuropathy with a novel mutation of PMP22
2000-01-01 Rigatelli, F.; Fabrizi, Gian Maria; Simonati, Alessandro; Cavallaro, Tiziana; Ferrarini, Moreno; Taioli, Federica; Mostacciuolo, M. L.; Rizzuto, Nicolo'
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
1999-01-01 Simonati, Alessandro; Fabrizi, Gian Maria; Pasquinelli, A.; Taioli, Federica; Cavallaro, T.; Morbin, M.; Marcon, G.; Papini, M.; Rizzuto, Nicolo'
Considerable post-partum worsening in a patient with CMT2E.
2013-01-01 Gentile, L.; Taioli, Federica; Fabrizi, Gian Maria; Russo, M.; Stancanelli, C.; Mazzeo, A.
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH
2020-01-01 Boso, Federica; Zanette, Giampietro; Baldinotti, Fulvia; Bertelloni, Silvano; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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. | |
| 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 | |
| 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 | |
| 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. | |
| Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy | 1-gen-2008 | Briani, C.; Adami, F.; Cavallaro, Tiziana; Taioli, Federica; Ferrari, Sergio; Fabrizi, Gian Maria | |
| 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 type 2E, a disorder of the cytoskeleton. | 1-gen-2007 | Fabrizi, Gian Maria; Cavallaro, T.; Angiari, Chiara; Cabrini, Ilaria; Taioli, Federica; Malerba, Giovanni; Bertolasi, Laura; Rizzuto, Nicolo' | |
| 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 | |
| CIDP, CMT1B, or CMT1B plus CIDP? | 1-gen-2021 | Cardellini, Davide; Zanette, Giampietro; Taioli, Federica; Bertolasi, Laura; Ferrari, Sergio; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases | 1-gen-1998 | Fabrizi, Gian Maria; Simonati, Alessandro; Morbin, M.; Cavallaro, T.; Taioli, Federica; Benedetti, M. D.; Edomi, P.; Rizzuto, Nicolo' | |
| Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation | 1-gen-2007 | Ragno, M.; Cacchiò, G.; Fabrizi, Gian Maria; Scarcella, M.; Silvaggio, F.; Cavallaro, Tiziana; Taioli, Federica; Trojano, L. | |
| 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 | |
| Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. | 1-gen-2011 | Luigetti, M.; Fabrizi, Gian Maria; Taioli, Federica; Conte, A.; Del Grande, A.; Sabatelli, M. | |
| Congenital hypomyelination neuropathy with a novel mutation of PMP22 | 1-gen-2000 | Rigatelli, F.; Fabrizi, Gian Maria; Simonati, Alessandro; Cavallaro, Tiziana; Ferrarini, Moreno; Taioli, Federica; Mostacciuolo, M. L.; Rizzuto, Nicolo' | |
| Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 | 1-gen-1999 | Simonati, Alessandro; Fabrizi, Gian Maria; Pasquinelli, A.; Taioli, Federica; Cavallaro, T.; Morbin, M.; Marcon, G.; Papini, M.; Rizzuto, Nicolo' | |
| Considerable post-partum worsening in a patient with CMT2E. | 1-gen-2013 | Gentile, L.; Taioli, Federica; Fabrizi, Gian Maria; Russo, M.; Stancanelli, C.; Mazzeo, A. | |
| Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH | 1-gen-2020 | Boso, Federica; Zanette, Giampietro; Baldinotti, Fulvia; Bertelloni, Silvano; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana |