Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy

por Sterlini, Bruno, Fruscione, Floriana, Baldassari, Simona, Benfenati, Fabio, Zara, Federico, Corradi, Anna
Publicado 2020

Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders

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

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

por Jaudon, Fanny, Baldassari, Simona, Musante, Ilaria, Thalhammer, Agnes, Zara, Federico, Cingolani, Lorenzo A.
Publicado 2020

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

CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reorganization of Mitochondria in the Cystic Fibrosis Bronchial Epithelium

por Braccia, Clarissa, Christopher, Josie A., Crook, Oliver M., Breckels, Lisa M., Queiroz, Rayner M. L., Liessi, Nara, Tomati, Valeria, Capurro, Valeria, Bandiera, Tiziano, Baldassari, Simona, Pedemonte, Nicoletta, Lilley, Kathryn S., Armirotti, Andrea
Publicado 2022

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

por Gazzerro, Elisabetta, Baldassari, Simona, Giacomini, Caterina, Musante, Veronica, Fruscione, Floriana, La Padula, Veronica, Biancheri, Roberta, Scarfì, Sonia, Prada, Valeria, Sotgia, Federica, Duncan, Ian D., Zara, Federico, Werner, Hauke B., Lisanti, Michael P., Nobbio, Lucilla, Corradi, Anna, Minetti, Carlo
Publicado 2012

PRRT2 controls neuronal excitability by negatively modulating Na(+) channel 1.2/1.6 activity

por Fruscione, Floriana, Valente, Pierluigi, Sterlini, Bruno, Romei, Alessandra, Baldassari, Simona, Fadda, Manuela, Prestigio, Cosimo, Giansante, Giorgia, Sartorelli, Jacopo, Rossi, Pia, Rubio, Alicia, Gambardella, Antonio, Nieus, Thierry, Broccoli, Vania, Fassio, Anna, Baldelli, Pietro, Corradi, Anna, Zara, Federico, Benfenati, Fabio
Publicado 2018

The leukodystrophy protein FAM126A/Hyccin regulates PI4P synthesis at the plasma membrane

por Baskin, Jeremy M., Wu, Xudong, Christiano, Romain, Oh, Michael S., Schauder, Curtis M., Gazzerro, Elisabetta, Messa, Mirko, Baldassari, Simona, Assereto, Stefania, Biancheri, Roberta, Zara, Federico, Minetti, Carlo, Raimondi, Andrea, Simons, Mikael, Walther, Tobias C., Reinisch, Karin M., De Camilli, Pietro
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

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

por Riva, Antonella, Nobile, Giulia, Giacomini, Thea, Ognibene, Marzia, Scala, Marcello, Balagura, Ganna, Madia, Francesca, Accogli, Andrea, Romano, Ferruccio, Tortora, Domenico, Severino, Mariasavina, Scudieri, Paolo, Baldassari, Simona, Musante, Ilaria, Uva, Paolo, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Capra, Valeria, Nobili, Lino, Striano, Pasquale, Mancardi, Maria Margherita, Zara, Federico, Iacomino, Michele
Publicado 2022

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

por Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Publicado 2021

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

por Accogli, Andrea, Wiegand, Gert, Scala, Marcello, Cerminara, Caterina, Iacomino, Michele, Riva, Antonella, Carlini, Barbara, Camerota, Letizia, Belcastro, Vincenzo, Prontera, Paolo, Fernández-Jaén, Alberto, Bebek, Nerses, Scudieri, Paolo, Baldassari, Simona, Salpietro, Vincenzo, Novelli, Giuseppe, De Luca, Chiara, von Stülpnagel, Celina, Kluger, Felicitas, Kluger, Gerhard Josef, Wohlrab, Gabriele Christine, Ramantani, Georgia, Lewis-Smith, David, Thomas, Rhys H., Lai, Ming, Verrotti, Alberto, Striano, Salvatore, Depienne, Christel, Minetti, Carlo, Benfenati, Fabio, Brancati, Francesco, Zara, Federico, Striano, Pasquale
Publicado 2021

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

por Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, Salpietro, Vincenzo
Publicado 2022

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

por Accogli, Andrea, Lu, Shenzhao, Musante, Ilaria, Scudieri, Paolo, Rosenfeld, Jill A., Severino, Mariasavina, Baldassari, Simona, Iacomino, Michele, Riva, Antonella, Balagura, Ganna, Piccolo, Gianluca, Minetti, Carlo, Roberto, Denis, Xia, Fan, Razak, Razaali, Lawrence, Emily, Hussein, Mohamed, Chang, Emmanuel Yih-Herng, Holick, Michelle, Calì, Elisa, Aliberto, Emanuela, De-Sarro, Rosalba, Gambardella, Antonio, Network, Undiagnosed Diseases, Group, SYNaPS Study, Emrick, Lisa, McCaffery, Peter J. A., Clagett-Dame, Margaret, Marcogliese, Paul C., Bellen, Hugo J., Lalani, Seema R., Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Publicado 2022

Epilepsy Course and Developmental Trajectories in STXBP1-DEE

por Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, Striano, Pasquale
Publicado 2022