BELLONE, EMILIA

BELLONE, EMILIA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftamologia, Genetica e Scienze Materno-Infantili  

Mostra records
Risultati 1 - 20 di 112 (tempo di esecuzione: 0.023 secondi).
Titolo Data di pubblicazione Autore(i) File
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 1-gen-1994 Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F.
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 1-gen-2017 Mandich, P; Lamp, M; Gotta, F; Gulli, R; Iacometti, A; Marchese, R; Bellone, E; Abbruzzese, G; Ferrandes, G
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. 1-gen-2002 Bellone, Emilia; Rodolico, C.; Toscano, A.; DI MARIA, Emilio; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, A.; Macaione, V.; Girlanda, P.; Vita, G.; Ajmar, Franco; Mandich, Paola
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 1-gen-1999 Bellone, Emilia; DI MARIA, Emilio; Soriani, S; Varese, A; Doria, Ll; Ajmar, Franco; Mandich, Paola
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 1-gen-2004 DI MARIA, Emilio; Gulli, R.; Balestra, P.; Cassandrini, D.; Pigullo, S.; DORIA LAMBA, L.; Bado, M.; Schenone, Angelo; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 1-gen-2004 Santoro, L.; Manganelli, F.; DI MARIA, Emilio; Bordo, D.; Cassandrini, D.; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 1-gen-1991 Bellone, Emilia; Mandich, Paola; P., Costa; L., Dalerba; Ajmar, Franco
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 1-gen-2015 Visigalli, Davide; Castagnola, Patrizio; Capodivento, Giovanna; Geroldi, Alessandro; Bellone, Emilia; Mancardi, Gianluigi; Pareyson, Davide; Schenone, Angelo; Nobbio, Lucilla
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 1-gen-2006 Bellone, Emilia; Balestra, P; Ribizzi, G; Schenone, Angelo; Zocchi, G; DI MARIA, Emilio; Ajmar, Franco; Mandich, Paola
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 1-gen-2009 Grandis, Marina; Scazzola, S.; Passalacqua, Mario; Luzzi, Paola; Bellone, Emilia; Mandich, Paola; Shy, M. E.; Schenone, Angelo
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 1-gen-1994 Novelletto, A.; Persichetti, F.; Sabbadini, G.; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Pergola, M.; DEL SENNO, L.; MAC DONALD, M.; Gusella, J.; Frontali, M.
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 1-gen-1990 Mandich, Paola; G., Restagno; G., Novelli; Bellone, Emilia; L., Potenza; O., Varetto; B., Dallapiccola; A., Carbonara; Ajmar, Franco
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 1-gen-2018 Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P.
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 1-gen-1992 Bellone, Emilia; Mandich, Paola; Mancardi, GIOVANNI LUIGI; Schenone, Angelo; Uccelli, Antonio; Abbruzzese, Michele; Sghirlanzoni, A; Pareyson, D; Ajmar, F.
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 1-gen-1992 Mandich, Paola; Bellone, Emilia; Uccelli, Antonio; D., Pareyson; Ajmar, Franco
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 1-gen-2014 Manganelli, F; Tozza, S; Pisciotta, C; Bellone, Emilia; Iodice, R; Nolano, M; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, L.
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy 1-gen-2022 Abati, Elena; Manini, Arianna; Velardo, Daniele; Del Bo, Roberto; Napoli, Laura; Rizzo, Federica; Moggio, Maurizio; Bresolin, Nereo; Bellone, Emilia; Teresa Bassi, Maria; Grazia D’Angelo, Maria; Pietro Comi &, Giacomo; Corti, Stefania
Clinical and genetic study of essential tremor in the Italian population. 1-gen-2001 Abbruzzese, Giovanni; S., Pigullo; DI MARIA, Emilio; P., Martinelli; P., Barone; R., Marchese; C., Scaglione; A., Assini; C., Lucetti; A., Berardelli; S., Calzetti; Bellone, Emilia; Ajmar, Franco; Mandich, Paola
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 1-gen-2009 Mandich, Paola; Fossa, Paola; Capponi, Simona; Geroldi, S; Acquaviva, M; Gulli, R; Ciotti, P; Manganelli, F; Grandis, Marina; Bellone, Emilia
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 1-gen-2017 Fortunato, Fernanda; Neri, Marcella; Geroldi, Alessandro; Bellone, Emilia; De Grandis, Domenico; Ferlini, Alessandra; Gualandi, Francesca