TAIOLI, Federica

TAIOLI, Federica  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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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.
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, 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
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 1-gen-2002 Simonati, Alessandro; Fabrizi, Gian Maria; Taioli, Federica; Polo, A.; Cerini, Roberto; Rizzuto, Nicolo'
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