Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders

por Baldassari, Simona, Musante, Ilaria, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scudieri, Paolo
Publicado 2020

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

por Croci, Carolina, Traverso, Monica, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Caroli, Francesco, Scala, Marcello, Bruno, Claudio, Fiorillo, Chiara
Publicado 2022

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome

por Scala, Marcello, De Grandis, Elisa, Nobile, Giulia, Iacomino, Michele, Madia, Francesca, Capra, Valeria, Nobili, Lino, Zara, Federico, Striano, Pasquale
Publicado 2022

Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review

por Falcicchio, Giovanni, Riva, Antonella, La Neve, Angela, Iacomino, Michele, Lastella, Patrizia, Suppressa, Patrizia, Sciruicchio, Vittorio, Trojano, Maria, Striano, Pasquale
Publicado 2023

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission

por Lammertse, Hanna C A, van Berkel, Annemiek A, Iacomino, Michele, Toonen, Ruud F, Striano, Pasquale, Gambardella, Antonio, Verhage, Matthijs, Zara, Federico
Publicado 2020

Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy

por Cioclu, Maria Cristina, Coppola, Antonietta, Tondelli, Manuela, Vaudano, Anna Elisabetta, Giovannini, Giada, Krithika, S., Iacomino, Michele, Zara, Federico, Sisodiya, Sanjay M., Meletti, Stefano
Publicado 2021

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment

por Riva, Antonella, Golda, Alice, Balagura, Ganna, Amadori, Elisabetta, Vari, Maria Stella, Piccolo, Gianluca, Iacomino, Michele, Lattanzi, Simona, Salpietro, Vincenzo, Minetti, Carlo, Striano, Pasquale
Publicado 2021

White matter involvement in a family with a novel PDGFB mutation

por Biancheri, Roberta, Severino, Mariasavina, Robbiano, Angela, Iacomino, Michele, Del Sette, Massimo, Minetti, Carlo, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, Striano, Pasquale, Zara, Federico
Publicado 2016

Novel TRIM32 mutation in sarcotubular myopathy

por PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA
Publicado 2019

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

por Dainelli, Alice, Iacomino, Michele, Rossato, Sara, Bugin, Samuela, Traverso, Monica, Severino, Mariasavina, Gustincich, Stefano, Capra, Valeria, Di Duca, Marco, Zara, Federico, Scala, Marcello, Striano, Pasquale
Publicado 2023

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

por Savarese, Marco, Piluso, Giulio, Orteschi, Daniela, Di Fruscio, Giuseppina, Dionisi, Manuela, Blanco, Francesca del Vecchio, Torella, Annalaura, Giugliano, Teresa, Iacomino, Michele, Zollino, Marcella, Neri, Giovanni, Nigro, Vincenzo
Publicado 2012

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

por Accogli, Andrea, Iacomino, Michele, Pinto, Francesca, Orsini, Alessandro, Vari, Maria Stella, Selmi, Raed, Torella, Annalaura, Nigro, Vincenzo, Minetti, Carlo, Severino, Mariasavina, Striano, Pasquale, Capra, Valeria, Zara, Federico
Publicado 2017

Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons

por Baldassari, Simona, Cervetto, Chiara, Amato, Sarah, Fruscione, Floriana, Balagura, Ganna, Pelassa, Simone, Musante, Ilaria, Iacomino, Michele, Traverso, Monica, Corradi, Anna, Scudieri, Paolo, Maura, Guido, Marcoli, Manuela, Zara, Federico
Publicado 2022

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

por Piccolo, Gianluca, d'Annunzio, Giuseppe, Amadori, Elisabetta, Riva, Antonella, Borgia, Paola, Tortora, Domenico, Maghnie, Mohamad, Minetti, Carlo, Gitto, Eloisa, Iacomino, Michele, Baldassari, Simona, Fiorillo, Chiara, Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Publicado 2021

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

por Imbrici, Paola, Accogli, Andrea, Blunck, Rikard, Altamura, Concetta, Iacomino, Michele, D’Adamo, Maria Cristina, Allegri, Anna, Pedemonte, Marina, Brolatti, Noemi, Vari, Stella, Cataldi, Matteo, Capra, Valeria, Gustincich, Stefano, Zara, Federico, Desaphy, Jean-Francois, Fiorillo, Chiara
Publicado 2021

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

por Riva, Antonella, Gambadauro, Antonella, Dipasquale, Valeria, Casto, Celeste, Ceravolo, Maria Domenica, Accogli, Andrea, Scala, Marcello, Ceravolo, Giorgia, Iacomino, Michele, Zara, Federico, Striano, Pasquale, Cuppari, Caterina, Di Rosa, Gabriella, Cutrupi, Maria Concetta, Salpietro, Vincenzo, Chimenz, Roberto
Publicado 2021

The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epith...

por Sondo, Elvira, Cresta, Federico, Pastorino, Cristina, Tomati, Valeria, Capurro, Valeria, Pesce, Emanuela, Lena, Mariateresa, Iacomino, Michele, Baffico, Ave Maria, Coviello, Domenico, Bandiera, Tiziano, Zara, Federico, Galietta, Luis J. V., Bocciardi, Renata, Castellani, Carlo, Pedemonte, Nicoletta
Publicado 2022

Novel GABRG2 mutations cause familial febrile seizures

por Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie
Publicado 2015

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

por Iacomino, Michele, Baldassari, Simona, Tochigi, Yuki, Kośla, Katarzyna, Buffelli, Francesca, Torella, Annalaura, Severino, Mariasavina, Paladini, Dario, Mandarà, Luana, Riva, Antonella, Scala, Marcello, Balagura, Ganna, Accogli, Andrea, Nigro, Vincenzo, Minetti, Carlo, Fulcheri, Ezio, Zara, Federico, Bednarek, Andrzej K., Striano, Pasquale, Suzuki, Hiroetsu, Salpietro, Vincenzo
Publicado 2020

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

por Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Diana, Maria Cristina, Zara, Federico, Capra, Valeria, Pavanello, Marco, De Marco, Patrizia
Publicado 2023