Sfoglia per Autore
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not results in Charcot-Marie-Tooth disease type 2E
2005 Andrigo, C.; Boito, C.; Prandini, P.; Mostacciuolo, MARIA LUISA; Siciliano, G.; Angelini, Corrado; Pegoraro, Elena
Co-segregation of LMNA and PMP22 gene mutations in the same family
2005 Pegoraro, Elena; Gavassini, Bp; Benedetti, S; Menditto, I; Zara, G; Padoan, R; Mostacciuolo, MARIA LUISA; Ferrari, M; Angelini, Corrado
2004. Double trouble for muscle and nerve: lamin A/C and PMP22 mutations in the same family.
2004 Pegoraro, Elena; Gavassini, BRUNO FRANCESCO; Zara, G; Romeo, V; Padoan, R; Benedetti, S; Ferrari, M; Zortea, M; Mostacciuolo, MARIA LUISA; Angelini, Corrado
Prevalence of Inherited Ataxias in Province of Padua, Italy
2004 Zortea, Michela; Armani, Mario; Pastorello, Ebe; Nunez, G. G.; Lombardi, S.; Tonello, S.; Rigoni, M. T.; Zuliani, L.; Mostacciuolo, MARIA LUISA; Gellera, C.; DI DONATO, S.; Trevisan, CARLO PIETRO
Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28
2003 Vazza, Giovanni; Picelli, Simone; Bozzato, A; Mostacciuolo, MARIA LUISA
A locus for migraine without aura maps on chromosome 14q21.2-q22.3
2003 Soragna, D.; Vettori, Andrea; Carraro, G.; Marchioni, E.; Vazza, Giovanni; Bellini, S.; Tupler, R.; Savoldi, F.; Mostacciuolo, MARIA LUISA
Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma.
2003 Opocher, Giuseppe; Schiavi, F; Vettori, Andrea; Pampinella, F; Vitiello, Libero; Calderan, A; Vianello, B; Murgia, Alessandra; Martella, M; Taccaliti, A; Mantero, Franco; Mostacciuolo, MARIA LUISA
X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients
2003 Pegoraro, Elena; Vettori, Andrea; Valentino, Ml; Molon, A; Mostacciuolo, MARIA LUISA; Howell, N; Carelli, V.
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
2003 Dalpozzo, F.; Rossetto, M. G.; Boaretto, Francesca; Sartori, Elena; Mostacciuolo, MARIA LUISA; Daga, A.; Bassi, M. T.; Martinuzzi, A.
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
2002 Zortea, M.; Vettori, Andrea; Trevisan, CARLO PIETRO; Bellini, S.; Vazza, Giovanni; Armani, Mario; Simonati, A.; Mostacciuolo, MARIA LUISA
PMP22 related Congenital Hypomyelination Neuropathy
2001 Fabrizi, G. M.; Simonati, A.; Taioli, F. CAVALLARO T. FERRARINI M. RIGATELLI A. PINI A.; Mostacciuolo, MARIA LUISA; Rizzuto, N.
Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis
2001 Siciliano, G; Manca, Ml; Pennarelli, M.; Angelini, Corrado; Rocchi, A; Iudice, A; Miorin, M.; Mostacciuolo, MARIA LUISA
Charcot-Marie-Tooth Disease Type I and related Demyelinating Neuropathies: mutation analysis in a large cohort of Italian families
2001 Mostacciuolo, MARIA LUISA; Righetti, E.; Zortea, Michela; BOSELLO TRAVAIN, Valentina; Schiavon, F.; Vallo, L.; Merlini, L.; Siciliano, G.; Fabrizi, G. M.; Rizzuto, N.; Milani, M.; Baratta, S. TARONI F.
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28
2000 Vazza, Giovanni; Zortea, Michela; Boaretto, F.; Micaglio, G. F.; Sartori, V.; Mostacciuolo, MARIA LUISA
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity
2000 Mostacciuolo, MARIA LUISA; Rampoldi, L.; Righetti, E.; Vazza, Giovanni; Schaivon, F.; Angelini, Corrado
Mutation of the same sequence of the myelin PO gene causing two different phenotypes
1998 Schiavon, F.; Rampazzo, Alessandra; Merlini, L.; Angelini, C.; Mostacciuolo, MARIA LUISA
Duble missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis
1998 Saad, F. A.; Merlini, L.; Mostacciuolo, MARIA LUISA; Danieli, G. A.
Novel mutations and polymorfisms in the human dystrophin gene detected by double strand conformation analysis
1997 Saad, F. A.; Mostacciuolo, MARIA LUISA; Trevisan, C. P.; Tomelleri, G.; Angelini, Corrado; ABDEL SALAM, E.; Danieli, G. A.
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations
1997 Fanin, M.; Duggandj, ; Mostacciuolo, MARIA LUISA; Martinello, F.; Freda, M. P.; Soraru', Gianni; Trevisan, C. P.; Hoffman, E. P.; Angelini, Corrado
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis
1997 Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga; Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga; Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga; Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga; Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga; Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga; Saad, Fa; Mostacciuolo, Ml; Trevisan, Cp; Tomelleri, G; Angelini, C; Abdel Salam, E; Danieli, Ga
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