NOVELLI, MARIA
NOVELLI, MARIA
DIPARTIMENTO DI NEUROSCIENZE UMANE
Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study
2023 Martucci, M; Novelli, M; Scarselli, V; Di Palma, F; Fioriello, F; Bernardini, L; Aceti, F; Giacchetti, N; Sogos, C; Pizzuti, A
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes
2024 Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Ricciardi, Giacomina; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi‐fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo
Comorbidities and Disease Duration in Tourette Syndrome: Impact on Cognition and Quality of Life of Children
2024 Conte, Giulia; Costanza, Carola; Novelli, Maria; Scarselli, Veronica; Arigliani, Elena; Valente, Francesca; Baglioni, Valentina; Terrinoni, Arianna; Chiarotti, Flavia; Cardona, Francesco
Diagnostic and Therapeutic Challenges of Comorbid ASD, ADHD and Psychosis: A Case Report
2022 Scarselli, Veronica; Martucci, Melania; Novelli, Maria; Galosi, Serena; Romani, Maria; Sogos, Carla
Early neurodevelopmental outcomes in children with asymptomatic congenital CMV infection
2022 Novelli, Maria; Natale, Fabio; Di Norcia, Anna; Boiani, Arianna; Temofonte, Sara; Calandriello, Francesca; Zitarelli, Cristina; Caravale, Barbara
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum
2023 Galosi, Serena; Novelli, M; Di Rocco, M; Flex, E; Messina, E; Pollini, Luca; Parrini, E; Pisani, F; Guerrini, Renzo; Leuzzi, V; Martinelli, S
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments
2023 Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; Leuzzi, Vincenzo
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling
2022 Galosi, Serena; Pollini, Luca; Novelli, Maria; Bernardi, Katerina; Di Rocco, Martina; Martinelli, Simone; Leuzzi, Vincenzo
Neurodevelopmental outcome of a child with UPD(16)mat: A case report
2024 Novelli, Maria; Mammarella, Valeria; Calandriello, Francesca; Temofonte, Sara; Goldoni, Marina; Macchiarulo, Ilaria; Versacci, Paolo; Pizzuti, Antonio; Petrilli, Jessica; Brina, Carlo Di; Caravale, Barbara
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
2021 Mero, S.; Salviati, L.; Leuzzi, V.; Rubegni, A.; Calderan, C.; Nardecchia, F.; Galatolo, D.; Desbats, M. A.; Naef, V.; Gemignani, F.; Novelli, M.; Tessa, A.; Battini, R.; Santorelli, F. M.; Marchese, M.
One-year neurodevelopmental outcome in children with asymptomatic congenital CMV infection
2024 Novelli, Maria; Caramuscio, Elvira; Natale, Fabio; Zitarelli, Cristina; Ferri, Rosa; Terrin, Gianluca; Caravale, Barbara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study | 2023 | Martucci, M; Novelli, M; Scarselli, V; Di Palma, F; Fioriello, F; Bernardini, L; Aceti, F; Giacchetti, N; Sogos, C; Pizzuti, A | |
| Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes | 2024 | Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Ricciardi, Giacomina; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi‐fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo | |
| Comorbidities and Disease Duration in Tourette Syndrome: Impact on Cognition and Quality of Life of Children | 2024 | Conte, Giulia; Costanza, Carola; Novelli, Maria; Scarselli, Veronica; Arigliani, Elena; Valente, Francesca; Baglioni, Valentina; Terrinoni, Arianna; Chiarotti, Flavia; Cardona, Francesco | |
| Diagnostic and Therapeutic Challenges of Comorbid ASD, ADHD and Psychosis: A Case Report | 2022 | Scarselli, Veronica; Martucci, Melania; Novelli, Maria; Galosi, Serena; Romani, Maria; Sogos, Carla | |
| Early neurodevelopmental outcomes in children with asymptomatic congenital CMV infection | 2022 | Novelli, Maria; Natale, Fabio; Di Norcia, Anna; Boiani, Arianna; Temofonte, Sara; Calandriello, Francesca; Zitarelli, Cristina; Caravale, Barbara | |
| GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum | 2023 | Galosi, Serena; Novelli, M; Di Rocco, M; Flex, E; Messina, E; Pollini, Luca; Parrini, E; Pisani, F; Guerrini, Renzo; Leuzzi, V; Martinelli, S | |
| GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments | 2023 | Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; Leuzzi, Vincenzo | |
| Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling | 2022 | Galosi, Serena; Pollini, Luca; Novelli, Maria; Bernardi, Katerina; Di Rocco, Martina; Martinelli, Simone; Leuzzi, Vincenzo | |
| Neurodevelopmental outcome of a child with UPD(16)mat: A case report | 2024 | Novelli, Maria; Mammarella, Valeria; Calandriello, Francesca; Temofonte, Sara; Goldoni, Marina; Macchiarulo, Ilaria; Versacci, Paolo; Pizzuti, Antonio; Petrilli, Jessica; Brina, Carlo Di; Caravale, Barbara | |
| New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts | 2021 | Mero, S.; Salviati, L.; Leuzzi, V.; Rubegni, A.; Calderan, C.; Nardecchia, F.; Galatolo, D.; Desbats, M. A.; Naef, V.; Gemignani, F.; Novelli, M.; Tessa, A.; Battini, R.; Santorelli, F. M.; Marchese, M. | |
| One-year neurodevelopmental outcome in children with asymptomatic congenital CMV infection | 2024 | Novelli, Maria; Caramuscio, Elvira; Natale, Fabio; Zitarelli, Cristina; Ferri, Rosa; Terrin, Gianluca; Caravale, Barbara |