Sfoglia per Autore
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'
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy.
2009-01-01 Marchini, C.; Zambito Marsala, S.; Bendini, M.; Taioli, Federica; Damante, G.; Lonigro, I. R.; 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
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.
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
2011-01-01 Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Simonati, Alessandro; Testi, Silvia; Fabrizi, Gian Maria
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias.
2011-01-01 Briani, C.; Fabrizi, Gian Maria; Ruggero, S.; Torre, C. D.; Ferrarini, Moreno; Campagnolo, M.; Cavallaro, Tiziana; Ferrari, Sergio; Scarlato, M.; Taioli, Federica; Adami, F.
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.
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
2011-01-01 Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Acler, M.; Fabrizi, Gian Maria
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
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
2012-01-01 Stancanelli, C.; Taioli, Federica; Testi, Silvia; Fabrizi, Gian Maria; Arena, M. G.; Granata, F.; Russo, M.; Gentile, L.; Vita, G.; Mazzeo, A.
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
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity.
2012-01-01 Luigetti, M.; Corsello, S. M.; Lattante, S.; Locantore, P.; Senes, P.; Fabrizi, Gian Maria; Taioli, Federica; Conte, A.; Del Grande, A.; Sabatelli, M.
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.
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.
2012-01-01 Briani, C.; Cavallaro, Tiziana; Ferrari, Sergio; Taioli, Federica; Calamelli, S.; Verga, L.; Adami, F.; Fabrizi, Gian Maria
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease
2012-01-01 Fabrizi, Gian Maria; Taioli, Federica; Cavallaro, Tiziana
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.
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.
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.
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES
2016-01-01 Zanette, G.; Tamburin, Stefano; Cavallaro, Tiziana; Magrinelli, Francesca; Cabrini, Ilaria; Taioli, Federica; Fabrizi, Gian Maria
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature
2016-01-01 Biasini, F.; Portaro, S.; Mazzeo, A.; Vita, G.; Fabrizi, Gian Maria; Taioli, Federica; Toscano, A.; Rodolico, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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' | |
| Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. | 1-gen-2009 | Marchini, C.; Zambito Marsala, S.; Bendini, M.; Taioli, Federica; Damante, G.; Lonigro, I. R.; 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 | |
| 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. | |
| Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. | 1-gen-2011 | Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Simonati, Alessandro; Testi, Silvia; Fabrizi, Gian Maria | |
| Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. | 1-gen-2011 | Briani, C.; Fabrizi, Gian Maria; Ruggero, S.; Torre, C. D.; Ferrarini, Moreno; Campagnolo, M.; Cavallaro, Tiziana; Ferrari, Sergio; Scarlato, M.; Taioli, Federica; Adami, F. | |
| 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. | |
| Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. | 1-gen-2011 | Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Acler, M.; Fabrizi, Gian Maria | |
| 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 | |
| Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. | 1-gen-2012 | Stancanelli, C.; Taioli, Federica; Testi, Silvia; Fabrizi, Gian Maria; Arena, M. G.; Granata, F.; Russo, M.; Gentile, L.; Vita, G.; Mazzeo, A. | |
| 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 | |
| Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. | 1-gen-2012 | Luigetti, M.; Corsello, S. M.; Lattante, S.; Locantore, P.; Senes, P.; Fabrizi, Gian Maria; Taioli, Federica; Conte, A.; Del Grande, A.; Sabatelli, M. | |
| 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. | |
| Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. | 1-gen-2012 | Briani, C.; Cavallaro, Tiziana; Ferrari, Sergio; Taioli, Federica; Calamelli, S.; Verga, L.; Adami, F.; Fabrizi, Gian Maria | |
| Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease | 1-gen-2012 | Fabrizi, Gian Maria; Taioli, Federica; Cavallaro, Tiziana | |
| 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. | |
| 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. | |
| 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. | |
| NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES | 1-gen-2016 | Zanette, G.; Tamburin, Stefano; Cavallaro, Tiziana; Magrinelli, Francesca; Cabrini, Ilaria; Taioli, Federica; Fabrizi, Gian Maria | |
| TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature | 1-gen-2016 | Biasini, F.; Portaro, S.; Mazzeo, A.; Vita, G.; Fabrizi, Gian Maria; Taioli, Federica; Toscano, A.; Rodolico, C. |
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