Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as E...

por Zollino, Marcella, Lattante, Serena, Orteschi, Daniela, Frangella, Silvia, Doronzio, Paolo N., Contaldo, Ilaria, Mercuri, Eugenio, Marangi, Giuseppe
Publicado 2017

Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship

por Massimi, Luca, Palombi, Davide, Contaldo, Ilaria, Veredice, Chara, Chieffo, Daniela Rosaria Pia, Calandrelli, Rosalinda, Tamburrini, Gianpiero, Battaglia, Domenica Immacolata
Publicado 2022

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

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

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

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

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

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

por Kenney‐Jung, Daniel L., Rogers, Dante J., Kroening, Samuel J., Zatkalik, Abigail L., Whitmarsh, Ashley E., Roberts, Amy E., Zenker, Martin, Gambardella, Maria Luigia, Contaldo, Ilaria, Leoni, Chiara, Onesimo, Roberta, Zampino, Giuseppe, Tartaglia, Marco, Battaglia, Domenica I., Pierpont, Elizabeth I.
Publicado 2022