Sfoglia per Autore
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro
1996-01-01 G., Moretto; D. G., Walker; P., Lanteri; Taioli, Federica; S., Zaffagnini; R. Y., Xu; Rizzuto, Nicolo'
Multiple sclerosis associated with duplicated CMT1A: a report of two cases
1997-01-01 E., Frasson; A., Polo; A., Di Summa; Fabrizi, Gian Maria; Taioli, Federica; Fiaschi, Antonio; Rizzuto, Nicolo'; G., Moretto
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'
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome
1999-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Morbin, M.; Simonati, Alessandro; Taioli, Federica; 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'
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22
1999-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Taioli, Federica; Orrico, D.; Morbin, M.; Simonati, Alessandro; Rizzuto, Nicolo'
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32
2000-01-01 Fabrizi, Gian Maria; A., Polo; Cavallaro, Tiziana; C., Pinardi; Taioli, Federica; C., Corrà; Rizzuto, Nicolo'
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'
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
2000-01-01 Fabrizi, Gm; Taioli, F; Cavallaro, T; Rigatelli, F; Simonati, A; Mariani, G; Perrone, P; Rizzuto, N
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance
2001-01-01 Fabrizi, Gian Maria; Ferrarini, Moreno; T., Cavallaro; Taioli, Federica; A., Polo; L., Jarre; Rizzuto, Nicolo'
PMP22 related congenital hypomyelination neuropathy
2001-01-01 Fabrizi, Gian Maria; Simonati, Alessandro; Taioli, Federica; Cavallaro, T.; Ferrarini, Moreno; Mostacciuolo, M. L.; Rizzuto, Nicolo'
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
2002-01-01 Simonati, Alessandro; Fabrizi, Gian Maria; Taioli, Federica; Polo, A.; Cerini, Roberto; Rizzuto, Nicolo'
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene
2006-01-01 Ragno, M; Fabrizi, Gian Maria; Cacchio, G; Scarcella, M; Sirocchi, G; Selvaggio, F; Taioli, Federica; Ferrarini, Moreno; Trojano, L.
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B
2006-01-01 Fabrizi, Gian Maria; Pellegrini, M.; Angiari, Chiara; Cavallaro, T.; Morini, A.; Taioli, Federica; Cabrini, Ilaria; Orrico, D.; Rizzuto, Nicolo'
Early-onset hereditary neuropathy with liability to pressure palsy
2007-01-01 Antonini, G; Luchetti, A; Mastrangelo, M; Ciambra, Gl; Di Netta, S; Taioli, F; Fabrizi, Gm; Iannetti, P
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'
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.
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
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'
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'
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro | 1-gen-1996 | G., Moretto; D. G., Walker; P., Lanteri; Taioli, Federica; S., Zaffagnini; R. Y., Xu; Rizzuto, Nicolo' | |
| Multiple sclerosis associated with duplicated CMT1A: a report of two cases | 1-gen-1997 | E., Frasson; A., Polo; A., Di Summa; Fabrizi, Gian Maria; Taioli, Federica; Fiaschi, Antonio; Rizzuto, Nicolo'; G., Moretto | |
| 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' | |
| Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome | 1-gen-1999 | Fabrizi, Gian Maria; Cavallaro, T.; Morbin, M.; Simonati, Alessandro; Taioli, Federica; 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' | |
| Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 | 1-gen-1999 | Fabrizi, Gian Maria; Cavallaro, T.; Taioli, Federica; Orrico, D.; Morbin, M.; Simonati, Alessandro; Rizzuto, Nicolo' | |
| X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 | 1-gen-2000 | Fabrizi, Gian Maria; A., Polo; Cavallaro, Tiziana; C., Pinardi; Taioli, Federica; C., Corrà; Rizzuto, Nicolo' | |
| 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' | |
| Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero | 1-gen-2000 | Fabrizi, Gm; Taioli, F; Cavallaro, T; Rigatelli, F; Simonati, A; Mariani, G; Perrone, P; Rizzuto, N | |
| Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance | 1-gen-2001 | Fabrizi, Gian Maria; Ferrarini, Moreno; T., Cavallaro; Taioli, Federica; A., Polo; L., Jarre; Rizzuto, Nicolo' | |
| PMP22 related congenital hypomyelination neuropathy | 1-gen-2001 | Fabrizi, Gian Maria; Simonati, Alessandro; Taioli, Federica; Cavallaro, T.; Ferrarini, Moreno; Mostacciuolo, M. L.; Rizzuto, Nicolo' | |
| 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' | |
| Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene | 1-gen-2006 | Ragno, M; Fabrizi, Gian Maria; Cacchio, G; Scarcella, M; Sirocchi, G; Selvaggio, F; Taioli, Federica; Ferrarini, Moreno; Trojano, L. | |
| Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B | 1-gen-2006 | Fabrizi, Gian Maria; Pellegrini, M.; Angiari, Chiara; Cavallaro, T.; Morini, A.; Taioli, Federica; Cabrini, Ilaria; Orrico, D.; Rizzuto, Nicolo' | |
| Early-onset hereditary neuropathy with liability to pressure palsy | 1-gen-2007 | Antonini, G; Luchetti, A; Mastrangelo, M; Ciambra, Gl; Di Netta, S; Taioli, F; Fabrizi, Gm; Iannetti, P | |
| 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' | |
| 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. | |
| 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 | |
| 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' | |
| 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' |
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