Browsing by Author Leoni, Chiara
Showing results 2 to 4 of 4
< previous
Issue Date | Title | Author(s) |
---|---|---|
2021 | Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations | Battaglia, Domenica I; Gambardella, Maria Luigia; Veltri, Stefania; Contaldo, Ilaria; Chillemi, Giovanni ; Veredice, Chiara; Quintiliani, Michela; Leoni, Chiara; Onesimo, Roberta; Verdolotti, Tommaso; Radio, Francesca Clementina; Martinelli, Diego; Trivisano, Marina; Specchio, Nicola; Dravet, Charlotte; Tartaglia, Marco; Zampino, Giuseppe |
2022 | Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome | Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B; Thomas-Teinturier, Cécile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni ; Zenker, Martin; Cavé, Hélène; Hertog, Jeroen; Tartaglia, Marco |
2022 | Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species | Carpentieri, Giovanna; Leoni, Chiara; Pietraforte, Donatella; Cecchetti, Serena; Iorio, Egidio; Belardo, Antonio; Pietrucci, Daniele ; Di Nottia, Michela; Pajalunga, Deborah; Megiorni, Francesca; Mercurio, Laura; Tatti, Massimo; Camero, Simona; Marchese, Cinzia; Rizza, Teresa; Tirelli, Valentina; Onesimo, Roberta; Carrozzo, Rosalba; Rinalducci Sara ; Chillemi, Giovanni ; Zampino, Giuseppe; Tartaglia, Marco; Flex, Elisabetta |