Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskeleton
Fabrizi, Gian Maria, Cavallaro, Tiziana, Angiari, Chiara, Cabrini, Ilaria, Taioli, Federica, Malerba, Giovanni, Bertolasi, Laura, Rizzuto, Nicolo'
Published in Brain (London, England : 1878) (01.02.2007)
Published in Brain (London, England : 1878) (01.02.2007)
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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
Fabrizi, G M, Taioli, F, Cavallaro, T, Ferrari, S, Bertolasi, L, Casarotto, M, Rizzuto, N, Deconinck, T, Timmerman, V, De Jonghe, P
Published in Neurology (31.03.2009)
Published in Neurology (31.03.2009)
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Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity
Luigetti, M, Corsello, S.M, Lattante, S, Locantore, P, Senes, P, Fabrizi, G.M, Taioli, F, Conte, A, Del Grande, A, Sabatelli, M
Published in Clinical neurology and neurosurgery (01.07.2012)
Published in Clinical neurology and neurosurgery (01.07.2012)
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Journal Article
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study
Mazzucco, S., Anzola, G.P., Ferrarini, M., Taioli, F., Olivato, S., Burlina, A.P., Fabrizi, G.M., Rizzuto, N.
Published in European neurology (01.01.2009)
Published in European neurology (01.01.2009)
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Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene
Ragno, M, Fabrizi, G M, Cacchiò, G, Scarcella, M, Sirocchi, G, Selvaggio, F, Taioli, F, Ferrarini, M, Trojano, L
Published in Neurological sciences (01.09.2006)
Published in Neurological sciences (01.09.2006)
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Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation
Ragno, M, Cacchiò, G, Fabrizi, G M, Scarcella, M, Silvaggio, F, Cavallaro, T, Taioli, F, Trojano, L
Published in Neurological sciences (01.08.2007)
Published in Neurological sciences (01.08.2007)
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Early-onset hereditary neuropathy with liability to pressure palsy
Antonini, G, Luchetti, A, Mastrangelo, M, Ciambra, G L, Di Netta, S, Taioli, F, Fabrizi, G M, Iannetti, P
Published in Neuropediatrics (01.02.2007)
Published in Neuropediatrics (01.02.2007)
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Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
FABRIZI, G. M, TAIOLI, F, CAVALLARO, T, RIGATELLI, F, SIMONATI, A, MARIANI, G, PERRONE, P, RIZZUTO, N
Published in Acta neuropathologica (01.09.2000)
Published in Acta neuropathologica (01.09.2000)
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Journal Article
PMP22 related congenital hypomyelination neuropathy
Fabrizi, G M, Simonati, A, Taioli, F, Cavallaro, T, Ferrarini, M, Rigatelli, F, Pini, A, Mostacciuolo, M L, Rizzuto, N
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2001)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2001)
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Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22
Fabrizi, G M, Cavallaro, T, Taioli, F, Orrico, D, Morbin, M, Simonati, A, Rizzuto, N
Published in Neurology (11.09.1999)
Published in Neurology (11.09.1999)
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Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome
Fabrizi, Gian Maria, Cavallaro, Tiziana, Morbin, Michela, Simonati, Alessandro, Taioli, Federica, Rizzuto, Nicolo’
Published in Journal of neurology, neurosurgery and psychiatry (01.03.1999)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.1999)
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Journal Article
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
Simonati, A, Fabrizi, G.M, Pasquinelli, A, Taioli, F, Cavallaro, T, Morbin, M, Marcon, G, Papini, M, Rizzuto, N
Published in Neuromuscular disorders : NMD (01.06.1999)
Published in Neuromuscular disorders : NMD (01.06.1999)
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Multiple sclerosis associated with duplicated CMT1A: a report of two cases
FRASSON, EMMA, POLO, ALBERTO, DI SUMMA, ALFONSINA, FABRIZI, GIANNI, TAIOLI, FEDERICA, FIASCHI, ANTONIO, RIZZUTO, NICOLÒ, MORETTO, GIUSEPPE
Published in Journal of neurology, neurosurgery and psychiatry (01.09.1997)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.1997)
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Deep weathering and landscape evolution in a tropical plateau
Modenesi-Gauttieri, May Christine, de Toledo, Maria Cristina Motta, Hiruma, Silvio Takashi, Taioli, Fabio, Shimada, Helio
Published in Catena (Giessen) (01.06.2011)
Published in Catena (Giessen) (01.06.2011)
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