Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis

by Federica Cavone, Susanna Cappelli, Alice Bonuccelli, Sofia D’Elios, Giorgio Costagliola, Diego Peroni, Alessandro Orsini, Rita Consolini
Published 2023-09-01

Case Report: MIS-C With Prominent Hepatic and Pancreatic Involvement in a Vaccinated Adolescent – A Critical Reasoning

by Rita Consolini, Giorgio Costagliola, Erika Spada, Piero Colombatto, Alessandro Orsini, Alice Bonuccelli, Maurizia R. Brunetto, Diego G. Peroni
Published 2022-05-01

Phenotypic Spectrum of <i>NFIA</i> Haploinsufficiency: Two Additional Cases and Review of the Literature

by Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini, Andrea Santangelo, Massimo Scacciati, Maurizio Elia, Ornella Galesi, Diego Peroni, Angelo Valetto
Published 2022-11-01

Essential headaches in developmental age: What is changed before, during and after the lockdown for COVID-19 pandemic. Clinical study

by Alice Bonuccelli, Greta Depietri, Tommaso Baldaccini, Irene Ricciutelli, Diego Peroni, Diego Peroni, Alberto Spalice, Gabriele Massimetti, Riccardo Morganti, Alessandro Orsini, Pasquale Striano, Pasquale Striano
Published 2023-04-01

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

by Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli
Published 2024-03-01

Digital Devices Use and Fine Motor Skills in Children between 3–6 Years

by Francesca Felicia Operto, Andrea Viggiano, Antonio Perfetto, Gabriella Citro, Miriam Olivieri, Valeria de Simone, Alice Bonuccelli, Alessandro Orsini, Salvatore Aiello, Giangennaro Coppola, Grazia Maria Giovanna Pastorino
Published 2023-05-01

Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the Literature

by Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini
Published 2023-06-01

Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications

by Giorgio Costagliola, Greta Depietri, Alexandre Michev, Antonella Riva, Thomas Foiadelli, Salvatore Savasta, Alice Bonuccelli, Diego Peroni, Diego Peroni, Rita Consolini, Gian Luigi Marseglia, Alessandro Orsini, Pasquale Striano, Pasquale Striano
Published 2022-03-01

Toward the Knowledge of the Epidemiological Impact of Acute Rheumatic Fever in Italy

by Antonino Maria Quintilio Alberio, Filippo Pieroni, Alessandro Di Gangi, Susanna Cappelli, Giulia Bini, Sarah Abu-Rumeileh, Alessandro Orsini, Alice Bonuccelli, Diego Peroni, Nadia Assanta, Carla Gaggiano, Gabriele Simonini, Rita Consolini
Published 2021-12-01

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

by Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano
Published 2020-07-01

The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series

by Andrea Santangelo, Emanuele Bartolini, Giulia Nuzzi, Thomas Foiadelli, Alexandre Michev, Tommaso Mina, Irene Trambusti, Valeria Fichera, Alice Bonuccelli, Gabriele Massimetti, Diego G. Peroni, Diego G. Peroni, Emanuela De Marco, Luca Coccoli, Laura Luti, Sayla Bernasconi, Margherita Nardi, Maria Cristina Menconi, Gabriella Casazza, Dario Pruna, Rosamaria Mura, Chiara Marra, Daniele Zama, Pasquale Striano, Pasquale Striano, Duccio M. Cordelli, Roberta Battini, Roberta Battini, Alessandro Orsini
Published 2022-06-01

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

by Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli
Published 2022-01-01