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Results: 1-25 | 26-34
Results: 1-25/34
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report
Authors: Filosto, M Tonin, P Vattemi, G Bongiovanni, LG Rizzuto, N Tomelleri, G
Citation: M. Filosto et al., Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report, NEUROL SCI, 22(3), 2001, pp. 253-256
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families
Authors: Mostacciuolo, ML Righetti, E Zortea, M Bosello, V Schiavon, F Vallo, L Merlini, L Siciliano, G Fabrizi, GM Rizzuto, N Milani, M Baratta, S Taroni, F
Citation: Ml. Mostacciuolo et al., Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families, HUM MUTAT, 18(1), 2001, pp. 32-41
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy
Authors: Zanusso, G Vattemi, G Ferrari, S Tabaton, M Pecini, E Cavallaro, T Tomelleri, G Filosto, M Tonin, P Nardelli, E Rizzuto, N Monaco, S
Citation: G. Zanusso et al., Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy, BRAIN PATH, 11(2), 2001, pp. 182-189
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia
Authors: Spagnolo, M Tomelleri, G Vattemi, G Filosto, M Rizzuto, N Tonin, P
Citation: M. Spagnolo et al., A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia, NEUROMUSC D, 11(5), 2001, pp. 481-484
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease
Authors: Gomez-Lira, M Mottes, M Perusi, C Pignatti, PF Rizzuto, N Gatti, R Salviati, A
Citation: M. Gomez-lira et al., A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease, MOL CELL PR, 15(2), 2001, pp. 75-79
Axillary injection of botulinum A toxin in a patient with muscle cramps associated with severe axillary hyperhidrosis
Authors: Filosto, M Bertolasi, L Fincati, E Priori, A Tomelleri, G Chieregato, G Rizzuto, N
Citation: M. Filosto et al., Axillary injection of botulinum A toxin in a patient with muscle cramps associated with severe axillary hyperhidrosis, ACT NEUR BE, 101(2), 2001, pp. 121-123
Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy (vol 111, pg 245, 2000)
Authors: Gomez-Lira, M Marzari, MG Uziel, G Pignatti, P Rizzuto, N Salviati, A
Citation: M. Gomez-lira et al., Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy (vol 111, pg 245, 2000), J NEUROIMM, 117(1-2), 2001, pp. 173-173
A somatic and germline mosaic mutation in MPZ/P-0 mimics recessive inheritance of CMT1B
Authors: Fabrizi, GM Ferrarini, M Cavallaro, T Jarre, L Polo, A Rizzuto, N
Citation: Gm. Fabrizi et al., A somatic and germline mosaic mutation in MPZ/P-0 mimics recessive inheritance of CMT1B, NEUROLOGY, 57(1), 2001, pp. 101-105
PMP22 related congenital hypomyelination neuropathy
Authors: Fabrizi, GM Simonati, A Taioli, F Cavallaro, T Ferrarini, M Rigatelli, F Pini, A Mostacciuolo, ML Rizzuto, N
Citation: Gm. Fabrizi et al., PMP22 related congenital hypomyelination neuropathy, J NE NE PSY, 70(1), 2001, pp. 123-126
pH-dependent prion protein conformation in classical Creutzfeldt-Jakob disease
Authors: Zanusso, G Farinazzo, A Fiorini, M Gelati, M Castagna, A Righetti, PG Rizzuto, N Monaco, S
Citation: G. Zanusso et al., pH-dependent prion protein conformation in classical Creutzfeldt-Jakob disease, J BIOL CHEM, 276(44), 2001, pp. 40377-40380
Dermatomyositis and retroperitoneal germ cell cancer
Authors: Vattemi, G Tonin, P Martignoni, G Filosto, M Marchioretto, F Rizzuto, N Tomelleri, G
Citation: G. Vattemi et al., Dermatomyositis and retroperitoneal germ cell cancer, EUR NEUROL, 45(1), 2001, pp. 52-53
Glial cell and macrophage reactions in rat spinal ganglion after peripheral nerve lesions: An immunocytochemical and morphometric study
Authors: Fenzi, F Benedetti, MD Moretto, G Rizzuto, N
Citation: F. Fenzi et al., Glial cell and macrophage reactions in rat spinal ganglion after peripheral nerve lesions: An immunocytochemical and morphometric study, ARCH IT BIO, 139(4), 2001, pp. 357-365
Neuronal ceroid lipofuscinoses: pathological features of bioptic specimensfrom 28 patients
Authors: Simonati, A Rizzuto, N
Citation: A. Simonati et N. Rizzuto, Neuronal ceroid lipofuscinoses: pathological features of bioptic specimensfrom 28 patients, NEUROL SCI, 21(3), 2000, pp. S63-S70
Immunohistochemical demonstration of spinal ventral horn cells involvementin a case of "myoclonus epilepsy with ragged red fibers" (MERRF)
Authors: Sparaco, M Cavallaro, T Rossi, G Rizzuto, N
Citation: M. Sparaco et al., Immunohistochemical demonstration of spinal ventral horn cells involvementin a case of "myoclonus epilepsy with ragged red fibers" (MERRF), CLIN NEUR, 19(4), 2000, pp. 200-207
A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL
Authors: Simonati, A Santorum, E Tessa, A Polo, A Simonetti, F Bernardina, BD Santorelli, FM Rizzuto, N
Citation: A. Simonati et al., A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL, NEUROPEDIAT, 31(4), 2000, pp. 199-201
Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy: Electrophysiological abnormalities and sural nerve biopsy
Authors: Polo, A Aldegheri, R Bongiovanni, LG Cavallaro, T Rizzuto, N
Citation: A. Polo et al., Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy: Electrophysiological abnormalities and sural nerve biopsy, NEUROPEDIAT, 31(3), 2000, pp. 148-150
T-cell anti-apoptotic mechanisms in inflammatory myopathies
Authors: Vattemi, G Tonin, P Filosto, M Spagnolo, M Rizzuto, N Tomelleri, G
Citation: G. Vattemi et al., T-cell anti-apoptotic mechanisms in inflammatory myopathies, J NEUROIMM, 111(1-2), 2000, pp. 146-151
Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy
Authors: Gomez-Lira, M Marzari, MG Uziel, G Pignatti, P Rizzuto, N Salviati, A
Citation: M. Gomez-lira et al., Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy, J NEUROIMM, 111(1-2), 2000, pp. 245-247
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
Authors: Fabrizi, GM Taioli, F Cavallaro, T Rigatelli, F Simonati, A Mariani, G Perrone, P Rizzuto, N
Citation: Gm. Fabrizi et al., Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero, ACT NEUROP, 100(3), 2000, pp. 299-304
Cell proliferation and death: Morphological evidence during corticogenesisin the developing human brain
Authors: Simonati, A Tosati, C Rosso, T Piazzola, E Rizzuto, N
Citation: A. Simonati et al., Cell proliferation and death: Morphological evidence during corticogenesisin the developing human brain, MICROSC RES, 45(6), 1999, pp. 341-352
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
Authors: Simonati, A Fabrizi, GM Pasquinelli, A Taioli, F Cavallaro, T Morbin, M Marcon, G Papini, M Rizzuto, N
Citation: A. Simonati et al., Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22, NEUROMUSC D, 9(4), 1999, pp. 257-261
Hepatitis C virus infection of peripheral nerves in type II cryoglobulinaemia
Authors: Bonetti, B Scardoni, M Monaco, S Rizzuto, N Scarpa, A
Citation: B. Bonetti et al., Hepatitis C virus infection of peripheral nerves in type II cryoglobulinaemia, VIRCHOWS AR, 434(6), 1999, pp. 533-535
Two novel missense mutations causing adrenoleukodystrophy in Italian patients
Authors: Perusi, C Gomez-Lira, M Mottes, M Pignatti, PF Bertini, E Cappa, M Vigliani, MC Schiffer, D Rizzuto, N Salviati, A
Citation: C. Perusi et al., Two novel missense mutations causing adrenoleukodystrophy in Italian patients, MOL CELL PR, 13(3), 1999, pp. 179-182
Introduction
Authors: Rizzuto, N
Citation: N. Rizzuto, Introduction, ITAL J NEUR, 20(6), 1999, pp. 365-365
Neuroaxonal dystrophy with dystonia and pallidal involvement
Authors: Simonati, A Trevisan, C Salviati, A Rizzuto, N
Citation: A. Simonati et al., Neuroaxonal dystrophy with dystonia and pallidal involvement, NEUROPEDIAT, 30(3), 1999, pp. 151-154
Risultati: 1-25 | 26-34