Sfoglia per Autore
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
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms
2021-01-01 Cerminara, Maria; Servetti, Martina; Squillari2, Margherita; Pisciotta, Livia; Spirito, Giovanni; Teresa Divizia, Maria; Lerone, Margherita; DE GRANDIS, Elisa; Boeri, Silvia; Nobili, Lino; Vozzi, Diego; Sanges, Remo; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
2021-01-01 Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A.
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs).
2021-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Nobili, Lino; Boeri, Silvia; Cerminara, Maria; Lerone, Margherita; Teresa Divizia, Maria; Ronchetto, Patrizia; Puliti, Aldamaria
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs.
2021-01-01 Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A.
In-vitro and in-vivo studies depict metabotropic glutamate receptor 5 as a potential pharmacological target to modulate disease progression in ALS
2021-01-01 Milanese, M.; Torazza, C.; Provenzano, F.; Bonifacino, T.; Ravera, S.; Balbi, M.; Frumento, G.; Kumar, M.; Cerminara, M.; Puliti, A.; Usai, C.; Bonanno, G.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
2021-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene
2022-01-01 Ruscitti, Federica; Cerminara, Maria; Iascone, Maria; Pezzoli, Laura; Romano, Ferruccio; Ronchetto, Patrizia; Martucciello, Giuseppe; Buratti, Silvia; Buffelli, Francesca; Bocciardi, Renata; Puliti, Aldamaria; Teresa Divizia, Maria
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs
2022-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome
2022-01-01 Cerminara, Maria; Vaccari, Carlotta; Musante, Ilaria; Divizia, MARIA TERESA; Lerone, Margherita; Torre, Michele; Victoria Romanini, Maria; Bossi, Simone; Servetti, Martina; Bocciardi, Renata; Pedemonte, Nicoletta; Del Zotto, Genny; Maria Senes, Filippo; Valle, Maura; Grazia Calevo, Maria; Fontana, Marco; Cittaro, Davide; Lazarevic, Dejan; Zara, Federico; Francesca Bedeschi, Maria; Puliti, Aldamaria
Partial deletion of mGluR5 affects microglia inflammatory phenotype, bioenergetic characteristics, and red-ox state during ALS progression in SOD1G93A mice
2022-01-01 Balbi, Matilde; Bonifacino, T.; Ravera, Silvia; Fenoglio, D.; Altosole, T.; Filaci, G.; Leardi, R.; Farinini, E.; Cerminara, M.; Puliti, Aldamaria; Milanese, Marco; Bonanno, G.
Studio di meccanismi oligogenici alla base di patologie complesse dello sviluppo: disturbi del neurosviluppo e sindrome di Poland.
2022-05-13 Cerminara, Maria
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing
2023-01-01 Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms | 1-gen-2021 | Cerminara, Maria; Servetti, Martina; Squillari2, Margherita; Pisciotta, Livia; Spirito, Giovanni; Teresa Divizia, Maria; Lerone, Margherita; DE GRANDIS, Elisa; Boeri, Silvia; Nobili, Lino; Vozzi, Diego; Sanges, Remo; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria | |
| Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances | 1-gen-2021 | Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A. | |
| Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). | 1-gen-2021 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Nobili, Lino; Boeri, Silvia; Cerminara, Maria; Lerone, Margherita; Teresa Divizia, Maria; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. | 1-gen-2021 | Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A. | |
| In-vitro and in-vivo studies depict metabotropic glutamate receptor 5 as a potential pharmacological target to modulate disease progression in ALS | 1-gen-2021 | Milanese, M.; Torazza, C.; Provenzano, F.; Bonifacino, T.; Ravera, S.; Balbi, M.; Frumento, G.; Kumar, M.; Cerminara, M.; Puliti, A.; Usai, C.; Bonanno, G. | |
| Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs | 1-gen-2021 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria | |
| An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene | 1-gen-2022 | Ruscitti, Federica; Cerminara, Maria; Iascone, Maria; Pezzoli, Laura; Romano, Ferruccio; Ronchetto, Patrizia; Martucciello, Giuseppe; Buratti, Silvia; Buffelli, Francesca; Bocciardi, Renata; Puliti, Aldamaria; Teresa Divizia, Maria | |
| Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs | 1-gen-2022 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome | 1-gen-2022 | Cerminara, Maria; Vaccari, Carlotta; Musante, Ilaria; Divizia, MARIA TERESA; Lerone, Margherita; Torre, Michele; Victoria Romanini, Maria; Bossi, Simone; Servetti, Martina; Bocciardi, Renata; Pedemonte, Nicoletta; Del Zotto, Genny; Maria Senes, Filippo; Valle, Maura; Grazia Calevo, Maria; Fontana, Marco; Cittaro, Davide; Lazarevic, Dejan; Zara, Federico; Francesca Bedeschi, Maria; Puliti, Aldamaria | |
| Partial deletion of mGluR5 affects microglia inflammatory phenotype, bioenergetic characteristics, and red-ox state during ALS progression in SOD1G93A mice | 1-gen-2022 | Balbi, Matilde; Bonifacino, T.; Ravera, Silvia; Fenoglio, D.; Altosole, T.; Filaci, G.; Leardi, R.; Farinini, E.; Cerminara, M.; Puliti, Aldamaria; Milanese, Marco; Bonanno, G. | |
| Studio di meccanismi oligogenici alla base di patologie complesse dello sviluppo: disturbi del neurosviluppo e sindrome di Poland. | 13-mag-2022 | Cerminara, Maria | |
| Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing | 1-gen-2023 | Rosti, Giulia; Boeri, Silvia; Divizia, Maria Teresa; Pisciotta, Livia; Mancardi, Maria Margherita; Lerone, Margherita; Cerminara, Maria; Servetti, Martina; Spirito, Giovanni; Vozzi, Diego; Fontana, Marco; Gustincich, Stefano; Nobili, Lino; Zara, Federico; Puliti, Aldamaria | |
| 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 |
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