Sfoglia per Autore
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'
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'
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B
2001-01-01 Fabrizi, G. M.; Ferrarini, M.; Cavallaro, T.; Jarre, L.; Polo, A.; Rizzuto, N.
PMP22 related congenital hypomyelination neuropathy
2001-01-01 Fabrizi, Gian Maria; Simonati, Alessandro; Taioli, Federica; Cavallaro, T.; Ferrarini, Moreno; Mostacciuolo, M. L.; Rizzuto, Nicolo'
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms
2004-01-01 Fabrizi, Gian Maria; Cavallaro, Tiziana; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo'
Dysmyelinating neuropathies of infancy: defined and undefined forms
2004-01-01 Fabrizi, Gian Maria; Cavallaro, T.; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo'
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation
2004-01-01 Capasso, M.; Di Muzio, A.; Ferrarini, M.; De Angelis, M. V.; Caporale, C. M.; Lupo, S.; Cavallaro, T.; Fabrizi, G. M.; Uncini, A.
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
2004-01-01 Fabrizi, G. M.; Cavallaro, T.; Angiari, C.; Bertolasi, L.; Cabrini, I.; Ferrarini, M.; Rizzuto, N.
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy
2004-01-01 Frigerio, R.; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Brighina, L.; Santoro, P.; Agostoni, E.; Cavaletti, G.; Rizzuto, Nicolo'; Ferrarese, C.
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants
2005-01-01 Fontanini, A; Chies, R; Snapp, El; Ferrarini, Moreno; Fabrizi, Gian Maria; Brancolini, C.
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant
2006-01-01 Ferrarini, Moreno; Perduca, Massimiliano; Fabrizi, Gian Maria; Rizzuto, Nicolo'; Monaco, Ugo Luigi
The TTR Italian Mutant: Iodine Effect on Protein Structure
2006-01-01 Perduca, Massimiliano; Ferrarini, Moreno; Fabrizi, Gian Maria; Rizzuto, Nicolo'; Monaco, Ugo Luigi
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.
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization
2007-01-01 Ferrarini, Moreno; Squintani, G.; Cavallaro, Tiziana; Ferrari, Sergio; Rizzuto, Nicolo'; Fabrizi, Gian Maria
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.
2007-01-01 Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Cabrini, Ilaria; Cerini, Roberto; Bertolasi, Laura; Rizzuto, Nicolo'
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'
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs.
2010-01-01 Luigetti, M.; Fabrizi, Gian Maria; Madia, F.; Ferrarini, Moreno; Conte, A.; Delgrande, A.; Tonali, P. A.; Sabatelli, M.
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
2010-01-01 Luigetti, M.; Fabrizi, Gian Maria; Madia, F.; Ferrarini, Moreno; Conte, A.; Del Grande, A.; Tasca, G.; Tonali, P. A.; Sabatelli, M.
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.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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' | |
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' | |
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B | 1-gen-2001 | Fabrizi, G. M.; Ferrarini, M.; Cavallaro, T.; Jarre, L.; Polo, A.; Rizzuto, N. | |
PMP22 related congenital hypomyelination neuropathy | 1-gen-2001 | Fabrizi, Gian Maria; Simonati, Alessandro; Taioli, Federica; Cavallaro, T.; Ferrarini, Moreno; Mostacciuolo, M. L.; Rizzuto, Nicolo' | |
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms | 1-gen-2004 | Fabrizi, Gian Maria; Cavallaro, Tiziana; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo' | |
Dysmyelinating neuropathies of infancy: defined and undefined forms | 1-gen-2004 | Fabrizi, Gian Maria; Cavallaro, T.; Ferrarini, Moreno; Angiari, Chiara; Cabrini, Ilaria; Simonati, Alessandro; Rizzuto, Nicolo' | |
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation | 1-gen-2004 | Capasso, M.; Di Muzio, A.; Ferrarini, M.; De Angelis, M. V.; Caporale, C. M.; Lupo, S.; Cavallaro, T.; Fabrizi, G. M.; Uncini, A. | |
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E | 1-gen-2004 | Fabrizi, G. M.; Cavallaro, T.; Angiari, C.; Bertolasi, L.; Cabrini, I.; Ferrarini, M.; Rizzuto, N. | |
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy | 1-gen-2004 | Frigerio, R.; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Brighina, L.; Santoro, P.; Agostoni, E.; Cavaletti, G.; Rizzuto, Nicolo'; Ferrarese, C. | |
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants | 1-gen-2005 | Fontanini, A; Chies, R; Snapp, El; Ferrarini, Moreno; Fabrizi, Gian Maria; Brancolini, C. | |
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant | 1-gen-2006 | Ferrarini, Moreno; Perduca, Massimiliano; Fabrizi, Gian Maria; Rizzuto, Nicolo'; Monaco, Ugo Luigi | |
The TTR Italian Mutant: Iodine Effect on Protein Structure | 1-gen-2006 | Perduca, Massimiliano; Ferrarini, Moreno; Fabrizi, Gian Maria; Rizzuto, Nicolo'; Monaco, Ugo Luigi | |
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. | |
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization | 1-gen-2007 | Ferrarini, Moreno; Squintani, G.; Cavallaro, Tiziana; Ferrari, Sergio; Rizzuto, Nicolo'; Fabrizi, Gian Maria | |
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. | 1-gen-2007 | Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Cabrini, Ilaria; Cerini, Roberto; Bertolasi, Laura; Rizzuto, Nicolo' | |
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' | |
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. | 1-gen-2010 | Luigetti, M.; Fabrizi, Gian Maria; Madia, F.; Ferrarini, Moreno; Conte, A.; Delgrande, A.; Tonali, P. A.; Sabatelli, M. | |
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. | 1-gen-2010 | Luigetti, M.; Fabrizi, Gian Maria; Madia, F.; Ferrarini, Moreno; Conte, A.; Del Grande, A.; Tasca, G.; Tonali, P. A.; Sabatelli, M. | |
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. |
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