MUSANTE, ILARIA
MUSANTE, ILARIA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
2022-01-01 Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele
Assessment of copy number variations in 120 patients with Poland syndrome
2016-01-01 Vaccari, Carlotta Maria; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria Teresa; Romanini, Maria Victoria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria Francesca; Baban, Anwar; Calevo, Maria Grazia; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
2020-01-01 Baldassari, S.; Musante, I.; Iacomino, M.; Zara, F.; SALPIETRO DAMIANO, Vincenzo; Scudieri, P.
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits.
2013-01-01 Rossi, Pia; Musante, Ilaria; Maria, Summa; Pittaluga, ANNA MARIA; Laura, Emionite; Masami, Ikehata; Maria Pia, Rastaldi; Ravazzolo, Roberto; Puliti, Aldamaria
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor.
2011-01-01 Rossi, Pia; Musante, Ilaria; Summa, Maria; Pittaluga, ANNA MARIA; M., Ikehata; M. P., Rastaldi; Ravazzolo, Roberto; Puliti, Aldamaria
Comprehensive analysis of combinatorial pharmacological treatments to correct nonsense mutations in the cftr gene
2021-01-01 Venturini, A.; Borrelli, A.; Musante, I.; Scudieri, P.; Capurro, V.; Renda, M.; Pedemonte, N.; Galietta, L. J. V.
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome
2014-01-01 Vaccari, Carlotta; Romanini, Mv; Musante, Ilaria; Tassano, E; Gimelli, S; Divizia, Mt; Torre, M; Morovic, Cg; Lerone, M; Ravazzolo, Roberto; Puliti, Aldamaria
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation
2023-01-01 Debczynski, M.; Mojsak, D.; Tamburro, S.; Baldassari, S.; Musante, I.; Casciaro, R.; Ciciriello, F.; Zara, F.; Scudieri, P.; Gorrieri, G.
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes
2023-01-01 Torazza, Carola; Provenzano, Francesca; Gallia, Elena; Cerminara, Maria; Balbi, Matilde; Bonifacino, Tiziana; Tessitore, Sara; Ravera, Silvia; Usai, Cesare; Musante, Ilaria; Puliti, Aldamaria; Van Den Bosch, Ludo; Jafar-Nejad, Paymaan; Rigo, Frank; Milanese, Marco; Bonanno, Giambattista
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia
2018-01-01 Bossi, Simone; Musante, Ilaria; Bonfiglio, Tommaso; Bonifacino, Tiziana; Emionite, Laura; Cerminara, Maria; Cervetto, Chiara; Marcoli, Manuela; Bonanno, Giambattista; Ravazzolo, Roberto; Pittaluga, Anna; Puliti, Aldamaria
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
2022-01-01 Borgia, Paola; Baldassari, Simona; Pedemonte, Nicoletta; Alkhunaizi, Ebba; D'Onofrio, Gianluca; Tortora, Domenico; Calì, Elisa; Scudieri, Paolo; Balagura, Ganna; Musante, Ilaria; Diana, Maria Cristina; Pedemonte, Marina; Vari, Maria Stella; Iacomino, Michele; Riva, Antonella; Chimenz, Roberto; Mangano, Giuseppe D; Mohammadi, Mohammad Hasan; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Accogli, Andrea; Schiaffino, Maria Cristina; Maghnie, Mohamad; Soler, Miguel Angel; Echiverri, Karl; Abrams, Charles K; Striano, Pasquale; Fortuna, Sara; Maroofian, Reza; Houlden, Henry; Zara, Federico; Fiorillo, Chiara; Salpietro, Vincenzo
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release
2016-01-01 Gorrieri, G; Scudieri, Paolo; Caci, E; Schiavon, M; Tomati, V; Sirci, F; Napolitano, F; Carrella, D; Gianotti, Ambra; Musante, Ilaria; Favia, M; Casavola, V; Guerra, L; Rea, F; Ravazzolo, Roberto; Di Bernardo, D; Galietta, LUIS JUAN VICENTE
In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1G93A mouse model of amyotrophic lateral sclerosis.
2017-01-01 Bonifacino, T; Cattaneo, L; Gallia, E; Puliti, A; Melone, M; Provenzano, F; Bossi, S; Musante, I; Usai, C; Conti, F; Bonanno, G; Milanese, M
Increased expression of ATP12A proton pump in cystic fibrosis airways
2018-01-01 Scudieri, P.; Musante, I.; Caci, E.; Venturini, A.; Morelli, P.; Walter, C.; Tosi, D.; Palleschi, A.; Martin-Vasallo, P.; Sermet-Gaudelus, I.; Planelles, G.; Crambert, G.; Galietta, L. J.
Intermolecular interactions in the TMEM16A dimer controlling channel activity
2016-01-01 Scudieri, P.; Musante, I.; Gianotti, A.; Moran, O.; Galietta, L. J. V.
Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells
2020-01-01 Scudieri, Paolo; Musante, Ilaria; Venturini, Arianna; Guidone, Daniela; Genovese, Michele; Cresta, Federico; Caci, Emanuela; Palleschi, Alessandro; Poeta, Marco; Santamaria, Francesca; Ciciriello, Fabiana; Lucidi, Vincenzina; Galietta, Luis J V
KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model
2022-01-01 Philp, Amber R; Miranda, Fernando; Gianotti, Ambra; Mansilla, Agustín; Scudieri, Paolo; Musante, Ilaria; Vega, Génesis; Figueroa, Carlos D; Galietta, Luis J V; Sarmiento, José M; Flores, Carlos A
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis
2014-01-01 Milanese, M; Giribaldi, F; Melone, M; Bonifacino, T; Musante, I; Carminati, E; Rossi, P. I. A.; Vergani, L; Voci, A; Conti, F; Puliti, A; Bonanno, G.
Knocking-down mGluR1 and mGluR5 in the SOD1/G93A mouse model of amyotrophic lateral sclerosis ameliorates survival and disease progression
2014-01-01 Bonanno, Giambattista; Milanese, Marco; Bonifacino, Tiziana; Melone, Marcello; Musante, Ilaria; Vergani, Laura
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
2022-01-01 Accogli, Andrea; Lu, Shenzhao; Musante, Ilaria; Scudieri, Paolo; Rosenfeld, Jill A; Severino, Mariasavina; Baldassari, Simona; Iacomino, Michele; Riva, Antonella; Balagura, Ganna; Piccolo, Gianluca; Minetti, Carlo; Roberto, Denis; Xia, Fan; Razak, Razaali; Lawrence, Emily; Hussein, Mohamed; Chang, Emmanuel Yih-Herng; Holick, Michelle; Calì, Elisa; Aliberto, Emanuela; De-Sarro, Rosalba; Gambardella, Antonio; Network, Undiagnosed Diseases; Group, SYNaPS Study; Emrick, Lisa; Mccaffery, Peter J A; Clagett-Dame, Margaret; Marcogliese, Paul C; Bellen, Hugo J; Lalani, Seema R; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome | 1-gen-2022 | Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele | |
Assessment of copy number variations in 120 patients with Poland syndrome | 1-gen-2016 | Vaccari, Carlotta Maria; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria Teresa; Romanini, Maria Victoria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria Francesca; Baban, Anwar; Calevo, Maria Grazia; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria | |
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders | 1-gen-2020 | Baldassari, S.; Musante, I.; Iacomino, M.; Zara, F.; SALPIETRO DAMIANO, Vincenzo; Scudieri, P. | |
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. | 1-gen-2013 | Rossi, Pia; Musante, Ilaria; Maria, Summa; Pittaluga, ANNA MARIA; Laura, Emionite; Masami, Ikehata; Maria Pia, Rastaldi; Ravazzolo, Roberto; Puliti, Aldamaria | |
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. | 1-gen-2011 | Rossi, Pia; Musante, Ilaria; Summa, Maria; Pittaluga, ANNA MARIA; M., Ikehata; M. P., Rastaldi; Ravazzolo, Roberto; Puliti, Aldamaria | |
Comprehensive analysis of combinatorial pharmacological treatments to correct nonsense mutations in the cftr gene | 1-gen-2021 | Venturini, A.; Borrelli, A.; Musante, I.; Scudieri, P.; Capurro, V.; Renda, M.; Pedemonte, N.; Galietta, L. J. V. | |
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome | 1-gen-2014 | Vaccari, Carlotta; Romanini, Mv; Musante, Ilaria; Tassano, E; Gimelli, S; Divizia, Mt; Torre, M; Morovic, Cg; Lerone, M; Ravazzolo, Roberto; Puliti, Aldamaria | |
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation | 1-gen-2023 | Debczynski, M.; Mojsak, D.; Tamburro, S.; Baldassari, S.; Musante, I.; Casciaro, R.; Ciciriello, F.; Zara, F.; Scudieri, P.; Gorrieri, G. | |
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes | 1-gen-2023 | Torazza, Carola; Provenzano, Francesca; Gallia, Elena; Cerminara, Maria; Balbi, Matilde; Bonifacino, Tiziana; Tessitore, Sara; Ravera, Silvia; Usai, Cesare; Musante, Ilaria; Puliti, Aldamaria; Van Den Bosch, Ludo; Jafar-Nejad, Paymaan; Rigo, Frank; Milanese, Marco; Bonanno, Giambattista | |
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia | 1-gen-2018 | Bossi, Simone; Musante, Ilaria; Bonfiglio, Tommaso; Bonifacino, Tiziana; Emionite, Laura; Cerminara, Maria; Cervetto, Chiara; Marcoli, Manuela; Bonanno, Giambattista; Ravazzolo, Roberto; Pittaluga, Anna; Puliti, Aldamaria | |
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders | 1-gen-2022 | Borgia, Paola; Baldassari, Simona; Pedemonte, Nicoletta; Alkhunaizi, Ebba; D'Onofrio, Gianluca; Tortora, Domenico; Calì, Elisa; Scudieri, Paolo; Balagura, Ganna; Musante, Ilaria; Diana, Maria Cristina; Pedemonte, Marina; Vari, Maria Stella; Iacomino, Michele; Riva, Antonella; Chimenz, Roberto; Mangano, Giuseppe D; Mohammadi, Mohammad Hasan; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Accogli, Andrea; Schiaffino, Maria Cristina; Maghnie, Mohamad; Soler, Miguel Angel; Echiverri, Karl; Abrams, Charles K; Striano, Pasquale; Fortuna, Sara; Maroofian, Reza; Houlden, Henry; Zara, Federico; Fiorillo, Chiara; Salpietro, Vincenzo | |
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release | 1-gen-2016 | Gorrieri, G; Scudieri, Paolo; Caci, E; Schiavon, M; Tomati, V; Sirci, F; Napolitano, F; Carrella, D; Gianotti, Ambra; Musante, Ilaria; Favia, M; Casavola, V; Guerra, L; Rea, F; Ravazzolo, Roberto; Di Bernardo, D; Galietta, LUIS JUAN VICENTE | |
In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1G93A mouse model of amyotrophic lateral sclerosis. | 1-gen-2017 | Bonifacino, T; Cattaneo, L; Gallia, E; Puliti, A; Melone, M; Provenzano, F; Bossi, S; Musante, I; Usai, C; Conti, F; Bonanno, G; Milanese, M | |
Increased expression of ATP12A proton pump in cystic fibrosis airways | 1-gen-2018 | Scudieri, P.; Musante, I.; Caci, E.; Venturini, A.; Morelli, P.; Walter, C.; Tosi, D.; Palleschi, A.; Martin-Vasallo, P.; Sermet-Gaudelus, I.; Planelles, G.; Crambert, G.; Galietta, L. J. | |
Intermolecular interactions in the TMEM16A dimer controlling channel activity | 1-gen-2016 | Scudieri, P.; Musante, I.; Gianotti, A.; Moran, O.; Galietta, L. J. V. | |
Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells | 1-gen-2020 | Scudieri, Paolo; Musante, Ilaria; Venturini, Arianna; Guidone, Daniela; Genovese, Michele; Cresta, Federico; Caci, Emanuela; Palleschi, Alessandro; Poeta, Marco; Santamaria, Francesca; Ciciriello, Fabiana; Lucidi, Vincenzina; Galietta, Luis J V | |
KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model | 1-gen-2022 | Philp, Amber R; Miranda, Fernando; Gianotti, Ambra; Mansilla, Agustín; Scudieri, Paolo; Musante, Ilaria; Vega, Génesis; Figueroa, Carlos D; Galietta, Luis J V; Sarmiento, José M; Flores, Carlos A | |
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis | 1-gen-2014 | Milanese, M; Giribaldi, F; Melone, M; Bonifacino, T; Musante, I; Carminati, E; Rossi, P. I. A.; Vergani, L; Voci, A; Conti, F; Puliti, A; Bonanno, G. | |
Knocking-down mGluR1 and mGluR5 in the SOD1/G93A mouse model of amyotrophic lateral sclerosis ameliorates survival and disease progression | 1-gen-2014 | Bonanno, Giambattista; Milanese, Marco; Bonifacino, Tiziana; Melone, Marcello; Musante, Ilaria; Vergani, Laura | |
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development | 1-gen-2022 | Accogli, Andrea; Lu, Shenzhao; Musante, Ilaria; Scudieri, Paolo; Rosenfeld, Jill A; Severino, Mariasavina; Baldassari, Simona; Iacomino, Michele; Riva, Antonella; Balagura, Ganna; Piccolo, Gianluca; Minetti, Carlo; Roberto, Denis; Xia, Fan; Razak, Razaali; Lawrence, Emily; Hussein, Mohamed; Chang, Emmanuel Yih-Herng; Holick, Michelle; Calì, Elisa; Aliberto, Emanuela; De-Sarro, Rosalba; Gambardella, Antonio; Network, Undiagnosed Diseases; Group, SYNaPS Study; Emrick, Lisa; Mccaffery, Peter J A; Clagett-Dame, Margaret; Marcogliese, Paul C; Bellen, Hugo J; Lalani, Seema R; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo |