Sfoglia per Autore
Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder
2018 Salvoro, C.; Bortoluzzi, S.; Coppe, A.; Valle, G.; Feltrin, E.; Mostacciuolo, M. L.; Vazza, G.
Clinical and genetic characterization of an Italian family with slow-channel syndrome
2018 Angelini, Corrado; Lispi, Ludovico; Salvoro, Cecilia; Mostacciuolo, Maria Luisa; Vazza, Giovanni
Abstracts of the XXIII rd World Congress of Psychiatric Genetics (WCPG): Poster abstracts
2017 Salvoro, Cecilia; Campanelli, Carlo; Finos, Livio; Valle, Giorgio; Mostacciuolo, MARIA LUISA; Bortoluzzi, Stefania; Vazza, Giovanni
Zebrafish Tg(hb9:MTS-Kaede): A new in vivo tool for studying the axonal movement of mitochondria
2016 Bergamin, Giorgia; Cieri, Domenico; Vazza, Giovanni; Argenton, Francesco; Mostacciuolo, MARIA LUISA
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients
2016 Boaretto, Francesca; Snijders, Deborah; Salvoro, Cecilia; Spalletta, Ambra; Mostacciuolo, MARIA LUISA; Collura, Mirella; Cazzato, Salvatore; Girosi, Donatella; Silvestri, Michela; Rossi, Giovanni Arturo; Barbato, Angelo; Vazza, Giovanni
Homozygous desmocollin-2 mutations and arrhythmogenic cardiomyopathy
2015 Lorenzon, Alessandra; Pilichou, Kalliopi; Rigato, Ilaria; Vazza, Giovanni; De Bortoli, Marzia; Calore, Martina; Occhi, Gianluca; Carturan, Elisa; Lazzarini, Elisabetta; Cason, Marco; Mazzotti, Elisa; Poloni, Giulia; Mostacciuolo, MARIA LUISA; Daliento, Luciano; Thiene, Gaetano; Corrado, Domenico; Basso, Cristina; Bauce, Barbara; Rampazzo, Alessandra
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites
2014 Manno, Nicola; Sam, Sherratt; Boaretto, Francesca; Freddy Mejìa, Coico; Carolina Espinoza, Camus; Cesar Jara, Campos; Salvatore, Musumeci; Battisti, Andrea; Rupert J., Quinnell; José Mostacero, Leon; Vazza, Giovanni; Mostacciuolo, MARIA LUISA; Paoletti, Maurizio; Franco H., Falcone
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
2013 Li Mura, Ie; Bauce, Barbara; Nava, Andrea; Fanciulli, M; Vazza, Giovanni; Mazzotti, E; Rigato, I; De Bortoli, M; Beffagna, Giorgia; Lorenzon, A; Calore, M; Dazzo, E; Nobile, C; Mostacciuolo, MARIA LUISA; Corrado, Domenico; Basso, Cristina; Daliento, Luciano; Thiene, Gaetano; Rampazzo, Alessandra
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.
2013 Gerding, Wm; Koetting, J; Rey, Lp; Bibas Bonet, H; Abdala, Me; Mazzeo, A; Mostacciuolo, MARIA LUISA; Arning, L; Carrero Valenzuela, R.
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
2013 Gregianin, Elisa; Vazza, Giovanni; Scaramel, E; Boaretto, Francesca; Vettori, Andrea; Leonardi, Emanuela; Tosatto, Silvio; Manara, R; Pegoraro, Elena; Mostacciuolo, MARIA LUISA
NOVEL MUTATION OF THE MITOFUSIN 2 GENE IN A FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 2A
2012 Bergamin, Giorgia; Dalla Torre, C.; Lucchetta, M.; Campagnolo, M.; Cacciavillani, Mario; Boaretto, Francesca; Mostacciuolo, MARIA LUISA; Briani, Chiara
CLINICAL AND ELECTROPHYSIOLOGICAL SPECTRUM IN A GROUP OF SPORADIC DISTAL MOTOR NEUROPATHIES
2012 Ec, Ienco; C., Carlesi; C., Simoncini; A., Logerfo; S., Piazza; Boaretto, Francesca; Mostacciuolo, MARIA LUISA; G., Siciliano
Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy
2011 Vettori, Andrea; Bergamin, Giorgia; Moro, Enrico; Vazza, Giovanni; Polo, G; Tiso, Natascia; Argenton, Francesco; Mostacciuolo, MARIA LUISA
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
2011 Bertolin, Cinzia; Magri, C; Barlati, S; Vettori, Andrea; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA; Vazza, Giovanni
MFN2 KNOCKDOWN CAUSES NEUROMUSCULAR ALTERATIONS DURING ZEBRAFISH (DANIO RERIO) DEVELOPMENT: CHARACTERIZATION AND ANALYSIS OF A NEW MODEL FOR CHARCOT-MARIE-TOOTH TYPE 2A NEUROPATHY
2011 Bergamin, Giorgia; Vettori, Andrea; Moro, Enrico; Vazza, Giovanni; Tiso, Natascia; Argenton, Francesco; Mostacciuolo, MARIA LUISA
The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C>T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review.
2011 Fusco, C; Ucchino, V; Barbon, G; Bonini, E; Mostacciuolo, MARIA LUISA; Frattini, D; Pisani, F; Giustina, Ed
Mfn2 knockdown causes neuromuscular alterations during zebrafish (danio rerio) development: characterization and analysis of a new model for charcot-marie-tooth type 2a neuropathy.
2011 Bergamin, Giorgia; Vettori, Andrea; Moro, Enrico; Vazza, Giovanni; Tiso, Natascia; Polo, G; Argenton, Francesco; Mostacciuolo, MARIA LUISA
Neurogenetica
2010 Pegoraro, Elena; Mostacciuolo, MARIA LUISA
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.
2010 Boaretto, Francesca; Vettori, Andrea; Casarin, A; Vazza, Giovanni; Muglia, M; Rossetto, Mg; Cavallaro, T; Rizzuto, N; Carelli, V; Salviati, Leonardo; Mostacciuolo, MARIA LUISA; Martinuzzi, A.
Zebrafish mitofusin-2 knockdown: a new model for CMT2A neuropathy?
2009 Bergamin, Giorgia; Vettori, Andrea; Moro, Enrico; Polo, G; Vazza, Giovanni; Tiso, Natascia; Argenton, Francesco; Mostacciuolo, MARIA LUISA
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