Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

por Taddeucci, Grazia, Bonuccelli, Alice, Mantellassi, Ilaria, Orsini, Alessandro, Tarantino, Enrico
Publicado 2010

Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome

por Bertini, Veronica, Gana, Simone, Orsini, Alessandro, Bonuccelli, Alice, Peroni, Diego, Angelo, Valetto
Publicado 2019

A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotyp...

por Bertini, Veronica, Valetto, Angelo, Azzarà, Alessia, Legitimo, Annalisa, Saggese, Giuseppe, Consolini, Rita, Orsini, Alessandro, Bonuccelli, Alice
Publicado 2017

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis

por Cavone, Federica, Cappelli, Susanna, Bonuccelli, Alice, D’Elios, Sofia, Costagliola, Giorgio, Peroni, Diego, Orsini, Alessandro, Consolini, Rita
Publicado 2023

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

por Consolini, Rita, Costagliola, Giorgio, Spada, Erika, Colombatto, Piero, Orsini, Alessandro, Bonuccelli, Alice, Brunetto, Maurizia R., Peroni, Diego G.
Publicado 2022

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

por Bonuccelli, Alice, Depietri, Greta, Baldaccini, Tommaso, Ricciutelli, Irene, Peroni, Diego, Spalice, Alberto, Massimetti, Gabriele, Morganti, Riccardo, Orsini, Alessandro, Striano, Pasquale
Publicado 2023

Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature

por Bertini, Veronica, Cambi, Francesca, Orsini, Alessandro, Bonuccelli, Alice, Fiorini, Aureliano, Santangelo, Andrea, Scacciati, Massimo, Elia, Maurizio, Galesi, Ornella, Peroni, Diego, Valetto, Angelo
Publicado 2022

Therapeutic aspects of Sydenham’s Chorea: an update

por Depietri, Greta, Carli, Niccolo, Sica, Attilio, Oliviero, Domenico, Costagliola, Giorgio, Striano, Pasquale, Bonuccelli, Alice, Frisone, Flavia, Peroni, Diego, Consolini, Rita, Foiadelli, Thomas, Orsini, Alessandro
Publicado 2021

Efficacy of Liposomal Melatonin in sleep EEG in Childhood: A Double Blind Case Control Study

por Bonuccelli, Alice, Santangelo, Andrea, Castelli, Francesca, Magherini, Giulia, Volpi, Elena, Costa, Elisa, Alesci, Elena, Massimetti, Gabriele, Operto, Francesca Felicia, Peroni, Diego Giampiero, Orsini, Alessandro
Publicado 2022

Mothers and fathers of children with epilepsy: gender differences in post-traumatic stress symptoms and correlations with mood spectrum symptoms

por Carmassi, Claudia, Corsi, Martina, Bertelloni, Carlo Antonio, Carpita, Barbara, Gesi, Camilla, Pedrinelli, Virginia, Massimetti, Gabriele, Peroni, Diego Giampietro, Bonuccelli, Alice, Orsini, Alessandro, Dell’Osso, Liliana
Publicado 2018

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

por Costagliola, Giorgio, Depietri, Greta, Michev, Alexandre, Riva, Antonella, Foiadelli, Thomas, Savasta, Salvatore, Bonuccelli, Alice, Peroni, Diego, Consolini, Rita, Marseglia, Gian Luigi, Orsini, Alessandro, Striano, Pasquale
Publicado 2022

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

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

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

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

Pediatric traumatic brain injury: a new relation between outcome and neutrophil-to-lymphocite ratio

por Marchese, Pietro, Lardone, Chiara, Canepele, Alessia, Biondi, Samanta, Roggi, Costantino, Massart, Francesco, Bonuccelli, Alice, Peroni, Diego G., Giotta Lucifero, Alice, Luzzi, Sabino, Foiadelli, Thomas, Orsini, Alessandro
Publicado 2021

Peripheral Arterial Tonometry (EndoPAT)-measured Endothelial Dysfunction in Migraine with Aura children

por Bonuccelli, Alice, Sciarrotta, Claudia, Esposito, Maria Grazia, Bianchi, Vanessa, Miccoli, Mario, Striano, Pasquale, D’Angelo, Riccardo, Valiani, Margherita, Randazzo, Emioli, Foiadelli, Thomas, Peroni, Diego, Federico, Giovanni, Orsini, Alessandro
Publicado 2021

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

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

PRES-like leukoencephalopathy presenting with status epilepticus associated with Brentuximab Vedotin treatment

por Orsini, Alessandro, Bernasconi, Sayla, Bianchi, Maria Cristina, Trivelli, Ilaria, Menconi, Maria Cristina, Nardi, Margherita, Santangelo, Andrea, Casazza, Gabriella, Carli, Niccolò, Esposito, Mariagrazia, Peroni, Diego, Striano, Pasquale, Foiadelli, Thomas, Bonuccelli, Alice
Publicado 2021

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

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

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

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

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

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