RAVASIO, VIOLA
RAVASIO, VIOLA
Dipartimento di Medicina Molecolare e Traslazionale
A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme
2018-01-01 Magri, Chiara; Giacopuzzi, Edoardo; LA VIA, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, MOHAMMED ELHUSSINY ALI; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
2018-01-01 Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS
2018-01-01 Ravasio, V.; Ritelli, M.; Legati, A.; Giacopuzzi, E.
Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish
2017-01-01 Ravasio, Viola; Damiati, Eufemia; Zizioli, Daniela; Orizio, Flavia; Giacopuzzi, Edoardo; Manzoni, Marta; Bresciani, Roberto; Borsani, Giuseppe; Monti, Eugenio
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization
2014-01-01 Bonardi, D; Ravasio, Viola; Borsani, Giuseppe; D'Azzo, A; Bresciani, Roberto; Monti, Eugenio; Giacopuzzi, Edoardo
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency
2018-01-01 Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria
The impairment of GABAergic pathway as one of the driver forces in the etiopathogenesis of schizophrenia: evidence from functional studies and gene-set enrichment analyses
2017-01-01 Magri, Chiara; Giacopuzzi, Edoardo; La Via, L.; Bonini, D.; Ravasio, V.; Elhussiny, M. E. A.; Valsecchi, P.; Bresciani, R.; Barbon, A.; Vita, A.; Gennarelli, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme | 1-gen-2018 | Magri, Chiara; Giacopuzzi, Edoardo; LA VIA, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, MOHAMMED ELHUSSINY ALI; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo | |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations | 1-gen-2018 | Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco | |
| GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS | 1-gen-2018 | Ravasio, V.; Ritelli, M.; Legati, A.; Giacopuzzi, E. | |
| Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish | 1-gen-2017 | Ravasio, Viola; Damiati, Eufemia; Zizioli, Daniela; Orizio, Flavia; Giacopuzzi, Edoardo; Manzoni, Marta; Bresciani, Roberto; Borsani, Giuseppe; Monti, Eugenio | |
| In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization | 1-gen-2014 | Bonardi, D; Ravasio, Viola; Borsani, Giuseppe; D'Azzo, A; Bresciani, Roberto; Monti, Eugenio; Giacopuzzi, Edoardo | |
| Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency | 1-gen-2018 | Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria | |
| The impairment of GABAergic pathway as one of the driver forces in the etiopathogenesis of schizophrenia: evidence from functional studies and gene-set enrichment analyses | 1-gen-2017 | Magri, Chiara; Giacopuzzi, Edoardo; La Via, L.; Bonini, D.; Ravasio, V.; Elhussiny, M. E. A.; Valsecchi, P.; Bresciani, R.; Barbon, A.; Vita, A.; Gennarelli, M. |