FERRARINI, Moreno

FERRARINI, Moreno  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

Mostra records
Risultati 1 - 20 di 37 (tempo di esecuzione: 0.025 secondi).
Titolo Data di pubblicazione Autore(i) File
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.
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
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 1-gen-2014 Testi, Silvia; Peluso, S.; Fabrizi, Gian Maria; Antenora, A.; Russo, C. V.; Pappatà, S.; Padovani, A.; Ferrarini, Moreno; Filla, A.
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.
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 1-gen-2022 Azzimonti, Matteo; Fazio, Raffaella; Giordano, Antonino; Tagliapietra, Matteo; Ferrarini, Moreno; Rocca, Maria Assunta; Fabrizi, Gian Maria; Filippi, Massimo; Colombo, Bruno
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'
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'
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 1-gen-2015 Stancanelli, C.; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Taioli, Federica; Di Leo, R.; Russo, M.; Gentile, L.; Toscano, A.; Vita, G.; Mazzeo, A.
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 1-gen-2020 Gentile, Luca; Russo, Massimo; Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Testi, Silvia; Alfonzo, Annalisa; Aguennouz, M'Hammed; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 1-gen-2016 Luigetti, Marco; Fabrizi, Gian Maria; Bisogni, Giulia; Romano, Angela; Taioli, Federica; Ferrarini, Moreno; Bernardo, Daniela; Rossini, Paolo Maria; Sabatelli, Mario
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'
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 1-gen-2019 Boso, Federica; Armirotti, Andrea; Taioli, Federica; Ferrarini, Moreno; Nobbio, Lucilla; Cavallaro, Tiziana; Fabrizi, Gian Maria
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'
Expanding the spectrum of genes responsible for hereditary motor neuropathies 1-gen-2019 Previtali, Stefano C; Zhao, Edward; Lazarevic, Dejan; Pipitone, Giovanni Battista; Fabrizi, Gian Maria; Manganelli, Fiore; Mazzeo, Anna; Pareyson, Davide; Schenone, Angelo; Taroni, Franco; Vita, Giuseppe; Bellone, Emilia; Ferrarini, Moreno; Garibaldi, Matteo; Magri, Stefania; Padua, Luca; Pennisi, Elena; Pisciotta, Chiara; Riva, Nilo; Scaioli, Vidmer; Scarlato, Marina; Tozza, Stefano; Geroldi, Alessandro; Jordanova, Albena; Ferrari, Maurizio; Molineris, Ivan; Reilly, Mary M; Comi, Giancarlo; Carrera, Paola; Devoto, Marcella; Bolino, Alessandra
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.
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.
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'
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.
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'
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 1-gen-2012 Testi, Silvia; Malerba, Giovanni; Ferrarini, Moreno; Ragno, M.; Pradotto, L.; Mauro, A.; Fabrizi, Gian Maria