Sfoglia per Autore
Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy: electrophysiological abnormalities and sural nerve biopsy
2000-01-01 Polo, A.; Aldegheri, R.; Bongiovanni, L. G.; Cavallaro, T.; Rizzuto, N.
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
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy
2001-01-01 Zanusso, Gianluigi; Vattemi, Gaetano Nicola; Ferrari, Sergio; Tabaton, M.; Pecini, E.; Cavallaro, Tiziana; Tomelleri, Giuliano; Filosto, M.; Tonin, Paola; Nardelli, Ettore; Rizzuto, Nicolo'; Monaco, Salvatore
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.
Hereditary neuropathy with liability to pressure palsies: Electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation
2003-01-01 Del Colle, R.; Fabrizi, G. M.; Turazzini, M.; Cavallaro, T.; Silvestri, M.; Rizzuto, N.
Detection of pathologic prion protein in the olfactory epithelium in sporadic Creutzfeldt-Jakob disease
2003-01-01 Zanusso, Gianluigi; Ferrari, Sergio; Cardone, F.; Zampieri, P.; Gelati, Matteo; Fiorini, Michele; Farinazzo, Alessia; Gardiman, M.; Cavallaro, Tiziana; BENTIVOGLIO FALES, Marina; Righetti, P. G.; Pocchiari, M.; Rizzuto, Nicolo'; Monaco, Salvatore
Charcot-Marie-Tooth disease with giant axons:a clinicopathological and genetic study
2003-01-01 Lus, G; Nelis, E; Jordanova, A; Lofgren, A; Cavallaro, Tiziana; Ammendola, A; Melone, Ma; Rizzuto, Nicolo'; Timmerman, V; Cotrufo, R; DE JONGHE, P.
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'
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.
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.
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene
2004-01-01 De Angelis, M. V.; Di Muzio, A.; Capasso, M.; Angiari, C.; Cavallaro, T.; Fabrizi, G. M.; Rizzuto, N.; Uncini, A.
Painful neuropathy vasculitis in 2 patients with long-standing human immunodeficiency virus-1 infection.
2004-01-01 Ferrari, Sergio; Lanzafame, M.; Faggian, F.; Malena, M.; Cruciani, M.; Cavallaro, Tiziana; Rizzuto, Nicolo'; Concia, Ercole; Vento, Sandro
Human immunodeficiency virus-associated peripheral neuropathies
2006-01-01 Ferrari, Sergio; Vento, Sandro; Monaco, Salvatore; Cavallaro, Tiziana; Cainelli, F; Rizzuto, Nicolo'; Temesgen, Z.
Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A
2006-01-01 Massa, R.; Palumbo, C.; Cavallaro, Tiziana; Panico, M. B.; Bei, R.; Terracciano, C.; Rizzuto, Nicolo'; Bernardi, G.; Modesti, A.
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study
2006-01-01 Padua, L.; Aprile, I.; Cavallaro, Tiziana; Commodari, I.; La Torre, G.; Pareyson, D.; Quattrone, A.; Rizzuto, Nicolo'; Vita, G.; Tonali, P.; Schenone, A.
Endothelial adhesion molecule expression is unaltered in the peripheral nerve from patients with AIDS and distal sensory polyneuropathy
2006-01-01 Fenzi, Flavio; Rossi, F.; Rava, Marta; Cavallaro, Tiziana; Ferrari, Sergio; Rizzuto, Nicolo'
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'
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
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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy: electrophysiological abnormalities and sural nerve biopsy | 1-gen-2000 | Polo, A.; Aldegheri, R.; Bongiovanni, L. G.; Cavallaro, T.; Rizzuto, N. | |
| 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 | |
| Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy | 1-gen-2001 | Zanusso, Gianluigi; Vattemi, Gaetano Nicola; Ferrari, Sergio; Tabaton, M.; Pecini, E.; Cavallaro, Tiziana; Tomelleri, Giuliano; Filosto, M.; Tonin, Paola; Nardelli, Ettore; Rizzuto, Nicolo'; Monaco, Salvatore | |
| 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. | |
| Hereditary neuropathy with liability to pressure palsies: Electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation | 1-gen-2003 | Del Colle, R.; Fabrizi, G. M.; Turazzini, M.; Cavallaro, T.; Silvestri, M.; Rizzuto, N. | |
| Detection of pathologic prion protein in the olfactory epithelium in sporadic Creutzfeldt-Jakob disease | 1-gen-2003 | Zanusso, Gianluigi; Ferrari, Sergio; Cardone, F.; Zampieri, P.; Gelati, Matteo; Fiorini, Michele; Farinazzo, Alessia; Gardiman, M.; Cavallaro, Tiziana; BENTIVOGLIO FALES, Marina; Righetti, P. G.; Pocchiari, M.; Rizzuto, Nicolo'; Monaco, Salvatore | |
| Charcot-Marie-Tooth disease with giant axons:a clinicopathological and genetic study | 1-gen-2003 | Lus, G; Nelis, E; Jordanova, A; Lofgren, A; Cavallaro, Tiziana; Ammendola, A; Melone, Ma; Rizzuto, Nicolo'; Timmerman, V; Cotrufo, R; DE JONGHE, P. | |
| 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' | |
| 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. | |
| 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. | |
| Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene | 1-gen-2004 | De Angelis, M. V.; Di Muzio, A.; Capasso, M.; Angiari, C.; Cavallaro, T.; Fabrizi, G. M.; Rizzuto, N.; Uncini, A. | |
| Painful neuropathy vasculitis in 2 patients with long-standing human immunodeficiency virus-1 infection. | 1-gen-2004 | Ferrari, Sergio; Lanzafame, M.; Faggian, F.; Malena, M.; Cruciani, M.; Cavallaro, Tiziana; Rizzuto, Nicolo'; Concia, Ercole; Vento, Sandro | |
| Human immunodeficiency virus-associated peripheral neuropathies | 1-gen-2006 | Ferrari, Sergio; Vento, Sandro; Monaco, Salvatore; Cavallaro, Tiziana; Cainelli, F; Rizzuto, Nicolo'; Temesgen, Z. | |
| Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A | 1-gen-2006 | Massa, R.; Palumbo, C.; Cavallaro, Tiziana; Panico, M. B.; Bei, R.; Terracciano, C.; Rizzuto, Nicolo'; Bernardi, G.; Modesti, A. | |
| Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study | 1-gen-2006 | Padua, L.; Aprile, I.; Cavallaro, Tiziana; Commodari, I.; La Torre, G.; Pareyson, D.; Quattrone, A.; Rizzuto, Nicolo'; Vita, G.; Tonali, P.; Schenone, A. | |
| Endothelial adhesion molecule expression is unaltered in the peripheral nerve from patients with AIDS and distal sensory polyneuropathy | 1-gen-2006 | Fenzi, Flavio; Rossi, F.; Rava, Marta; Cavallaro, Tiziana; Ferrari, Sergio; Rizzuto, Nicolo' | |
| 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' | |
| 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 | |
| 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. |
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