Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

por Sprovieri, Teresa, Ungaro, Carmine, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, Luigi, Muglia, Maria, Cavalcanti, Francesca, Cavallaro, Sebastiano, Mercuri, Eugenio, Battaglia, Domenica
Publicado 2019

A systematic review on gender dysphoria in adolescents and young adults: focus on suicidal and self-harming ideation and behaviours

por Marconi, Elisa, Monti, Laura, Marfoli, Angelica, Kotzalidis, Georgios D., Janiri, Delfina, Cianfriglia, Cecilia, Moriconi, Federica, Costa, Stefano, Veredice, Chiara, Sani, Gabriele, Chieffo, Daniela Pia Rosaria
Publicado 2023

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Varia...

por Pasquetti, Domizia, Marangi, Giuseppe, Orteschi, Daniela, Carapelle, Marina, L’Erario, Federica Francesca, Venditti, Romina, Maietta, Sabrina, Battaglia, Domenica Immacolata, Contaldo, Ilaria, Veredice, Chiara, Zollino, Marcella
Publicado 2023

Specific Learning Disorders (SLD) and Behavior Impairment: Comorbidity or Specific Profile?

por Chieffo, Daniela Pia Rosaria, Arcangeli, Valentina, Moriconi, Federica, Marfoli, Angelica, Lino, Federica, Vannuccini, Sofia, Marconi, Elisa, Turrini, Ida, Brogna, Claudia, Veredice, Chiara, Antonietti, Alessandro, Sani, Gabriele, Mercuri, Eugenio Maria
Publicado 2023

Cortical Visual Impairment in CDKL5 Deficiency Disorder

por Quintiliani, Michela, Ricci, Daniela, Petrianni, Maria, Leone, Simona, Orazi, Lorenzo, Amore, Filippo, Gambardella, Maria Luigia, Contaldo, Ilaria, Veredice, Chiara, Perulli, Marco, Musto, Elisa, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata
Publicado 2022

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

por De Rose, Domenico Umberto, Gallini, Francesca, Battaglia, Domenica Immacolata, Tiberi, Eloisa, Gaudino, Simona, Contaldo, Ilaria, Veredice, Chiara, Romeo, Domenico Marco, Massimi, Luca, Asaro, Alessia, Cereda, Cristina, Vento, Giovanni, Mercuri, Eugenio Maria
Publicado 2021

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review

por Cipolla, Clelia, Sessa, Linda, Rotunno, Giulia, Sodero, Giorgio, Proli, Francesco, Veredice, Chiara, Giorgio, Valentina, Leoni, Chiara, Rosati, Jessica, Limongelli, Domenico, Kuczynska, Eliza, Sforza, Elisabetta, Trevisan, Valentina, Rigante, Donato, Zampino, Giuseppe, Onesimo, Roberta
Publicado 2023

Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation

por Perulli, Marco, Cicala, Gianpaolo, Turrini, Ida, Musto, Elisa, Quintiliani, Michela, Gambardella, Maria Luigia, Pulitanò, Silvia Maria, Bompard, Sarah, Staccioli, Susanna, Carmillo, Laura, Di Sante, Gabriele, Ria, Francesco, Veredice, Chiara, Contaldo, Ilaria, Battaglia, Domenica
Publicado 2022

Visual Function in Children with GNAO1-Related Encephalopathy

por Gambardella, Maria Luigia, Pede, Elisa, Orazi, Lorenzo, Leone, Simona, Quintiliani, Michela, Amorelli, Giulia Maria, Petrianni, Maria, Galanti, Marta, Amore, Filippo, Musto, Elisa, Perulli, Marco, Contaldo, Ilaria, Veredice, Chiara, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata, Ricci, Daniela
Publicado 2023

Outpatient care for adolescents’ and young adults’ mental health: promoting self- and others’ understanding through a metacognitive interpersonal therapy-informed psychological int...

por Marconi, Elisa, Monti, Laura, Fredda, Giulia, Kotzalidis, Georgios D., Janiri, Delfina, Zani, Valentina, Vitaletti, Debora, Simone, Maria Velia, Piciollo, Simone, Moriconi, Federica, Di Pietro, Emanuela, Popolo, Raffaele, Dimaggio, Giancarlo, Veredice, Chiara, Sani, Gabriele, Chieffo, Daniela Pia Rosaria
Publicado 2023

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

por 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
Publicado 2021