Sfoglia per Autore
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
2009 Millino, C; Fanin, Marina; Vettori, Andrea; Laveder, Paolo; Mostacciuolo, MARIA LUISA; Angelini, Corrado; Lanfranchi, Gerolamo
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample
2009 Mostacciuolo, MARIA LUISA; Pastorello, E; Vazza, Giovanni; Miorin, M; Angelini, Corrado; Tomelleri, G; Galluzzi, G; Trevisan, CARLO PIETRO
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
2009 Muglia, M; Vazza, Giovanni; Patitucci, A; Milani, M; Pareyson, D; Taroni, F; Quattrone, A; Mostacciuolo, MARIA LUISA
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
2009 Crimella, C; Arnoldi, A; Crippa, F; Mostacciuolo, MARIA LUISA; Boaretto, Francesca; Sironi, M; D'Angelo, Mg; Manzoni, S; Piccinini, L; Turconi, Ac; Toscano, A; Musumeci, O; Benedetti, S; Fazio, R; Bresolin, N; Daga, A; Martinuzzi, A; Bassi, Mt
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family.
2008 Vettori, Andrea; Boaretto, Francesca; Vazza, Giovanni; Muglia, M; Martinuzzi, A; Paticucci, A; Bertolin, A; Bergamin, Giorgia; Quattrone, G; Mostacciuolo, MARIA LUISA
Individuation of new mutations in L1CAM gene in patients with L1 diseases.
2008 Boaretto, Francesca; Bertolin, Cinzia; Vazza, Giovanni; Garavelli, G; DELLA GIUSTINA, E; Divizia, Mt; Vettori, Andrea; Mostacciuolo, MARIA LUISA
Familial epilepsy and developmental dysphasia: Description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.
2008 Michelucci, R; Scudellaro, E; Testoni, S; Passarelli, D; Riguzzi, P; Diani, E; Vazza, Giovanni; Vianello, V; Scabar, A; Mostacciuolo, MARIA LUISA; Volpi, L; Rubboli, G; Pinardi, F; Mancardi, Mm; Tassinari, Ca; Nobile, C.
Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A.
2007 Muglia, M; Boaretto, Francesca; Martinuzzi, A; Vazza, Giovanni; Piva, L; Vettori, Andrea; Paticucci, A; Bertolin, Cinzia; Siciliano, G; Quattrone, A; Mostacciuolo, MARIA LUISA
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy
2007 Muglia, M; Vazza, Giovanni; Patitucci, A; Milani, M; Pareyson, D; Taroni, F; Quattrone, A; Mostacciuolo, MARIA LUISA
Evaluation of linkage signals in a subset of families with high recurrence of schizophrenia and bipolar disorder originating from Chioggia
2007 Bertolin, Cinzia; Vazza, Giovanni; Vettori, Andrea; Boaretto, Francesca; Scudellaro, E; Rampinelli, Sabina; DE SANCTIS, G; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26
2007 Vazza, Giovanni; Bertolin, Cinzia; Scudellaro, E; Vettori, Andrea; Boaretto, Francesca; Rampinelli, Sabina; DE SANCTIS, G; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA
Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP)
2006 Martinuzzi, A; Rossetto, Mg; Crippa, F; Panzeri, C; Musumeci, O; Vazza, Giovanni; Toscano, A; Comi, Gp; Dangelo, G; Mostacciuolo, MARIA LUISA; Trevisan, CARLO PIETRO; Siciliano, G; Meola, G; Profice, P; Daga, A; Pandolfo, M; Bresolin, N; Bassi, Mt
Genetic inheritance of schizophrenia and bipolar disorder in an italian population isolate
2006 C., Scapoli; Rampinelli, Sabina; Perini, Giulia; Vazza, Giovanni; P., Peruzzi; G., DE SANCTIS; A., DI FIORIO; Bertolin, Cinzia; Mostacciuolo, MARIA LUISA
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia
2006 Crippa, F; Panzeri, C; Martinuzzi, Andrea; Arnoldi, A; Redaelli, F; Tonelli, A; Baschirotto, C; Vazza, Giovanni; Mostacciuolo, MARIA LUISA; Daga, A; Orso, G; Profice, P; Trabacca, A; D'Angelo, Mg; Comi, Gp; Galbiati, S; Lamperti, C; Bonato, S; Pandolfo, M; Meola, G; Musumeci, O; Toscano, A; Trevisan, CARLO PIETRO; Bresolin, N; Bassi, Mt
A novel missense mutation in the L1CAM gene in a boy with L1 disease
2006 Simonati, A; Boaretto, Francesca; Vettori, Andrea; Dabrilli, P; Criscuolo, L; Rizzuto, N; Mostacciuolo, MARIA LUISA
Genome scan for schizophrenia/bipolar disorder supports a susceptibility locus in 15q26
2006 Vazza, Giovanni; C., Bertolin; E., Scudellaro; Vettori, Andrea; Boaretto, Francesca; S., Rampinelli; G. D., Sanctis; Perini, Giulia; P., Peruzzi; Mostacciuolo, MARIA LUISA
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
2006 Vazza, Giovanni; Merlini, L; Bertolin, Cinzia; Zortea, Michela; Mostacciuolo, MARIA LUISA
Genetic inheritance of schizophrenia and bipolar disorder in an Italian population isolate
2006 C., Scapoli; Rampinelli, Sabina; Vazza, Giovanni; P., Peruzzi; G. D., Sanctis; A. D., Florio; Bertolin, Cinzia; Mostacciuolo, MARIA LUISA
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
Studio genetico pilota sulla popolazione di Chioggia: dati preliminari
2005 Mostacciuolo, MARIA LUISA; Vettori, Andrea; Boaretto, Francesca; Scudellaro, E; Bertolin, Cinzia; Spadaro, E; Vazza, Giovanni
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