Early Parenting Intervention – Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): study protocol for an Italian multicentre randomised controlled tr...

por Montirosso, Rosario, Rosa, Elisa, Giorda, Roberto, Fazzi, Elisa, Orcesi, Simona, Cavallini, Anna, Provenzi, Livio
Publicado 2020

What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature

por Gardella, Barbara, Dominoni, Mattia, Scatigno, Annachiara Licia, Cesari, Stefania, Fiandrino, Giacomo, Orcesi, Simona, Spinillo, Arsenio
Publicado 2022

Legius Syndrome: two novel mutations in the SPRED1 gene

por Bianchi, Marika, Saletti, Veronica, Micheli, Roberto, Esposito, Silvia, Molinaro, Anna, Gagliardi, Stella, Orcesi, Simona, Cereda, Cristina
Publicado 2015

The Experience of Child Neuropsychiatry Residents who Volunteered in Italian COVID-19-Designated Hospitals

por Parravicini, Stefano, Provenzi, Livio, Barello, Serena, Nania, Tiziana, Grumi, Serena, Rinaldi, Elisa, Orcesi, Simona, Borgatti, Renato
Publicado 2021

Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome

por Schmidt, Johanna L., Olivieri, Ivana, Vento, Jodie M., Fazzi, Elisa, Gordish-Dressman, Heather, Orcesi, Simona, Vanderver, Adeline
Publicado 2012

Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome

por Galli, Jessica, Cattalini, Marco, Loi, Erika, Ferraro, Rosalba Monica, Giliani, Silvia, Orcesi, Simona, Pinelli, Lorenzo, Badolato, Raffaele, Fazzi, Elisa
Publicado 2023

Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders

por Mongodi, Silvia, Ottonello, Gaia, Viggiano, Raffaelealdo, Borrelli, Paola, Orcesi, Simona, Pichiecchio, Anna, Balottin, Umberto, Mojoli, Francesco, Iotti, Giorgio Antonio
Publicado 2019

Characterization of Mitochondrial Alterations in Aicardi–Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes

por Dragoni, Francesca, Garau, Jessica, Sproviero, Daisy, Orcesi, Simona, Varesio, Costanza, De Siervi, Silvia, Gagliardi, Stella, Cereda, Cristina, Pansarasa, Orietta
Publicado 2022

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Li...

por Politano, Davide, Catalano, Guido, Pezzotti, Elena, Varesio, Costanza, Sirchia, Fabio, Casella, Antonella, Rognone, Elisa, Pichiecchio, Anna, Borgatti, Renato, Orcesi, Simona
Publicado 2023

Reduction of hRNase H2 activity in Aicardi–Goutières syndrome cells leads to replication stress and genome instability

por Pizzi, Sara, Sertic, Sarah, Orcesi, Simona, Cereda, Cristina, Bianchi, Marika, Jackson, Andrew P., Lazzaro, Federico, Plevani, Paolo, Muzi-Falconi, Marco
Publicado 2015

IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report

por Badolato, Raffaele, Cattalini, Marco, Scaduto, Rosaria, Roversi, Sara, Galli, Jessica, Ferraro, Rosalba Monica, Cortesi, Manuela, Orcesi, Simona, Giliani, Silvia, Fazzi, Elisa
Publicado 2021

Zika Virus Infection in Pregnancy: Advanced Diagnostic Approaches in Dengue-Naive and Dengue-Experienced Pregnant Women and Possible Implication for Cross-Reactivity and Cross-Prot...

por Zavattoni, Maurizio, Rovida, Francesca, Percivalle, Elena, Cassaniti, Irene, Sarasini, Antonella, Arossa, Alessia, Tassis, Beatrice, Bollani, Lina, Lombardi, Giuseppina, Orcesi, Simona, Baldanti, Fausto
Publicado 2019

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

por Cattalini, Marco, Galli, Jessica, Zunica, Fiammetta, Ferraro, Rosalba Monica, Carpanelli, Marialuisa, Orcesi, Simona, Palumbo, Giovanni, Pinelli, Lorenzo, Giliani, Silvia, Fazzi, Elisa, Badolato, Raffaele
Publicado 2021

Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort

por Caporali, Camilla, Longo, Stefania, Tritto, Giovanna, Perotti, Gianfranco, Pisoni, Camilla, Naboni, Cecilia, Gardella, Barbara, Spinillo, Arsenio, Manzoni, Federica, Ghirardello, Stefano, Borgatti, Renato, Orcesi, Simona
Publicado 2022

3279 First in Man

por Adang, Laura, Gavazzi, Francesco, Giorgis, Valentina De, Simone, Micaela De, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole
Publicado 2019

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

por Moresco, Giada, Costanza, Jole, Santaniello, Carlo, Rondinone, Ornella, Grilli, Federico, Prada, Elisabetta, Orcesi, Simona, Coro, Ilaria, Pichiecchio, Anna, Marchisio, Paola, Miozzo, Monica, Fontana, Laura, Milani, Donatella
Publicado 2021

Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome

por Dragoni, Francesca, Garau, Jessica, Orcesi, Simona, Varesio, Costanza, Bordoni, Matteo, Scarian, Eveljn, Di Gerlando, Rosalinda, Fazzi, Elisa, Battini, Roberta, Gjurgjaj, Altea, Rizzo, Bartolo, Pansarasa, Orietta, Gagliardi, Stella
Publicado 2023

Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations

por Garau, Jessica, Sproviero, Daisy, Dragoni, Francesca, Piscianz, Elisa, Santonicola, Carolina, Tonduti, Davide, Carelli, Stephana, Tesser, Alessandra, Zuccotti, Gian Vincenzo, Tommasini, Alberto, Orcesi, Simona, Pansarasa, Orietta, Cereda, Cristina
Publicado 2021

Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial

por Garofoli, Francesca, Longo, Stefania, Pisoni, Camilla, Accorsi, Patrizia, Angelini, Micol, Aversa, Salvatore, Caporali, Camilla, Cociglio, Sara, De Silvestri, Annalisa, Fazzi, Elisa, Rizzo, Vittoria, Tzialla, Chryssoula, Zecca, Marco, Orcesi, Simona
Publicado 2021

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome

por Garau, Jessica, Masnada, Silvia, Dragoni, Francesca, Sproviero, Daisy, Fogolari, Federico, Gagliardi, Stella, Izzo, Giana, Varesio, Costanza, Orcesi, Simona, Veggiotti, Pierangelo, Zuccotti, Gian Vincenzo, Pansarasa, Orietta, Tonduti, Davide, Cereda, Cristina
Publicado 2021