Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
Servetti, Martina, Pisciotta, Livia, Tassano, Elisa, Cerminara, Maria, Nobili, Lino, Boeri, Silvia, Rosti, Giulia, Lerone, Margherita, Divizia, Maria Teresa, Ronchetto, Patrizia, Puliti, Aldamaria
Published in Frontiers in genetics (21.09.2021)
Published in Frontiers in genetics (21.09.2021)
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Presynaptic mGlu1 Receptors Control GABAB Receptors in an Antagonist-Like Manner in Mouse Cortical GABAergic and Glutamatergic Nerve Endings
Vergassola, Matteo, Olivero, Guendalina, Cisani, Francesca, Usai, Cesare, Bossi, Simone, Puliti, Aldamaria, Pittaluga, Anna
Published in Frontiers in molecular neuroscience (18.09.2018)
Published in Frontiers in molecular neuroscience (18.09.2018)
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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
Cerminara, Maria, Spirito, Giovanni, Pisciotta, Livia, Squillario, Margherita, Servetti, Martina, Divizia, Maria Teresa, Lerone, Margherita, Berloco, Bianca, Boeri, Silvia, Nobili, Lino, Vozzi, Diego, Sanges, Remo, Gustincich, Stefano, Puliti, Aldamaria
Published in Frontiers in genetics (18.02.2021)
Published in Frontiers in genetics (18.02.2021)
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In-vivo genetic ablation of metabotropic glutamate receptor type 5 slows down disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis
Bonifacino, Tiziana, Provenzano, Francesca, Gallia, Elena, Ravera, Silvia, Torazza, Carola, Bossi, Simone, Ferrando, Sara, Puliti, Aldamaria, Van Den Bosch, Ludo, Bonanno, Giambattista, Milanese, Marco
Published in Neurobiology of disease (01.09.2019)
Published in Neurobiology of disease (01.09.2019)
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The HIV-1 Viral Protein Tat Increases Glutamate and Decreases GABA Exocytosis from Human and Mouse Neocortical Nerve Endings
Musante, Veronica, Summa, Maria, Neri, Elisa, Puliti, Aldamaria, Godowicz, Tomasz T., Severi, Paolo, Battaglia, Giuseppe, Raiteri, Maurizio, Pittaluga, Anna
Published in Cerebral cortex (New York, N.Y. 1991) (01.08.2010)
Published in Cerebral cortex (New York, N.Y. 1991) (01.08.2010)
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Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes
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
Published in Cells (Basel, Switzerland) (27.07.2023)
Published in Cells (Basel, Switzerland) (27.07.2023)
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Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia
Bossi, Simone, Musante, Ilaria, Bonfiglio, Tommaso, Bonifacino, Tiziana, Emionite, Laura, Cerminara, Maria, Cervetto, Chiara, Marcoli, Manuela, Bonanno, Giambattista, Ravazzolo, Roberto, Pittaluga, Anna, Puliti, Aldamaria
Published in Neurobiology of disease (01.01.2018)
Published in Neurobiology of disease (01.01.2018)
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Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1
Notartomaso, Serena, Zappulla, Cristina, Biagioni, Francesca, Cannella, Milena, Bucci, Domenico, Mascio, Giada, Scarselli, Pamela, Fazio, Francesco, Weisz, Filippo, Lionetto, Luana, Simmaco, Maurizio, Gradini, Roberto, Battaglia, Giuseppe, Signore, Michele, Puliti, Aldamaria, Nicoletti, Ferdinando
Published in Molecular brain (19.11.2013)
Published in Molecular brain (19.11.2013)
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Albuminuria and Glomerular Damage in Mice Lacking the Metabotropic Glutamate Receptor 1
Puliti, Aldamaria, Rossi, Pia Irene Anna, Caridi, Gianluca, Corbelli, Alessandro, Ikehata, Masami, Armelloni, Silvia, Li, Min, Zennaro, Cristina, Conti, Valerio, Vaccari, Carlotta Maria, Cassanello, Michela, Calevo, Maria Grazia, Emionite, Laura, Ravazzolo, Roberto, Rastaldi, Maria Pia
Published in The American journal of pathology (01.03.2011)
Published in The American journal of pathology (01.03.2011)
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Mutation of the Sry-Related Sox10 Gene in Dominant megacolon, a Mouse Model for Human Hirschsprung Disease
Herbarth, Beate, Pingault, Veronique, Bondurand, Nadege, Kuhlbrodt, Kirsten, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Lemort, Nicole, Goossens, Michel, Wegner, Michael
Published in Proceedings of the National Academy of Sciences - PNAS (28.04.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (28.04.1998)
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Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis
Milanese, Marco, Giribaldi, Francesco, Melone, Marcello, Bonifacino, Tiziana, Musante, Ilaria, Carminati, Enrico, Rossi, Pia I.A, Vergani, Laura, Voci, Adriana, Conti, Fiorenzo, Puliti, Aldamaria, Bonanno, Giambattista
Published in Neurobiology of disease (01.04.2014)
Published in Neurobiology of disease (01.04.2014)
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The HIV-1 viral protein Tat modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings by acting at different binding sites
Summa, Maria, Severi, Paolo, Puliti, Aldamaria, Raiteri, Maurizio, Pittaluga, Anna
Published in Retrovirology (11.05.2010)
Published in Retrovirology (11.05.2010)
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C620R mutation of the murine ret proto‐oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes
Yin, Luo, Puliti, Aldamaria, Bonora, Elena, Evangelisti, Cecilia, Conti, Valerio, Tong, Wei‐Min, Medard, Jean‐Jacques, Lavoué, Marie‐France, Forey, Nathalie, Wang, Lily C., Manié, Serge, Morel, Gérard, Raccurt, Mireille, Wang, Zhao‐Qi, Romeo, Giovanni
Published in International journal of cancer (15.07.2007)
Published in International journal of cancer (15.07.2007)
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Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment
Romanini, Maria Victoria, Calevo, Maria Grazia, Puliti, Aldamaria, Vaccari, Carlotta, Valle, Maura, Senes, Filippo, Torre, Michele
Published in Seminars in pediatric surgery (01.06.2018)
Published in Seminars in pediatric surgery (01.06.2018)
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In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1 mouse model of amyotrophic lateral sclerosis
Bonifacino, Tiziana, Cattaneo, Luca, Gallia, Elena, Puliti, Aldamaria, Melone, Marcello, Provenzano, Francesca, Bossi, Simone, Musante, Ilaria, Usai, Cesare, Conti, Fiorenzo, Bonanno, Giambattista, Milanese, Marco
Published in Neuropharmacology (01.09.2017)
Published in Neuropharmacology (01.09.2017)
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Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model
Maltecca, Francesca, Baseggio, Elisa, Consolato, Francesco, Mazza, Davide, Podini, Paola, Young, Jr, Samuel M, Drago, Ilaria, Bahr, Ben A, Puliti, Aldamaria, Codazzi, Franca, Quattrini, Angelo, Casari, Giorgio
Published in The Journal of clinical investigation (01.01.2015)
Published in The Journal of clinical investigation (01.01.2015)
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Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion
Drovandi, Stefania, Servetti, Martina, Angeletti, Andrea, Puliti, Aldamaria, Ronchetto, Patrizia, Tassano, Elisa, Ghiggeri, Gian Marco, Caridi, Gianluca
Published in Journal of nephrology (01.12.2021)
Published in Journal of nephrology (01.12.2021)
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Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1 mouse model of SCAR13 ataxia
Bossi, Simone, Musante, Ilaria, Bonfiglio, Tommaso, Bonifacino, Tiziana, Emionite, Laura, Cerminara, Maria, Cervetto, Chiara, Marcoli, Manuela, Bonanno, Giambattista, Ravazzolo, Roberto, Pittaluga, Anna, Puliti, Aldamaria
Published in Neurobiology of disease (01.01.2018)
Published in Neurobiology of disease (01.01.2018)
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Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
Rosti, Giulia, Tassano, Elisa, Bossi, Simone, Divizia, Maria Teresa, Ronchetto, Patrizia, Servetti, Martina, Lerone, Margherita, Pisciotta, Livia, Mancardi, Maria Margherita, Veneselli, Edvige, Puliti, Aldamaria
Published in European journal of medical genetics (01.09.2019)
Published in European journal of medical genetics (01.09.2019)
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Three-dimensional podocyte–endothelial cell co-cultures: Assembly, validation, and application to drug testing and intercellular signaling studies
Li, Min, Corbelli, Alessandro, Watanabe, Shojiro, Armelloni, Silvia, Ikehata, Masami, Parazzi, Valentina, Pignatari, Chiara, Giardino, Laura, Mattinzoli, Deborah, Lazzari, Lorenza, Puliti, Aldamaria, Cellesi, Francesco, Zennaro, Cristina, Messa, Piergiorgio, Rastaldi, Maria Pia
Published in European journal of pharmaceutical sciences (30.04.2016)
Published in European journal of pharmaceutical sciences (30.04.2016)
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