PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity
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
Published in Brain (London, England : 1878) (01.04.2018)
Published in Brain (London, England : 1878) (01.04.2018)
Get full text
Journal Article
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons
Aprile, Davide, Fruscione, Floriana, Baldassari, Simona, Fadda, Manuela, Ferrante, Daniele, Falace, Antonio, Buhler, Emmanuelle, Sartorelli, Jacopo, Represa, Alfonso, Baldelli, Pietro, Benfenati, Fabio, Zara, Federico, Fassio, Anna
Published in Cell death and differentiation (01.11.2019)
Published in Cell death and differentiation (01.11.2019)
Get full text
Journal Article
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane
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
Published in Nature cell biology (01.01.2016)
Published in Nature cell biology (01.01.2016)
Get full text
Journal Article
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations
Gorrieri, Giulia, Tamburro, Serena, Baldassari, Simona, Guerrisi, Sara, Zara, Federico, Ricci, Emilia, Maria Cordelli, Duccio, Scudieri, Paolo, Musante, Ilaria
Published in Stem cell research (01.04.2024)
Published in Stem cell research (01.04.2024)
Get full text
Journal Article
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons
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
Published in International journal of molecular sciences (11.09.2022)
Published in International journal of molecular sciences (11.09.2022)
Get full text
Journal Article
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion
Conteduca, Giuseppina, Baldo, Chiara, Arado, Alessia, Traverso, Monica, Testa, Barbara, Malacarne, Michela, Coviello, Domenico, Zara, Federico, Baldassari, Simona
Published in Stem cell research (01.02.2023)
Published in Stem cell research (01.02.2023)
Get full text
Journal Article
Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5
Conteduca, Giuseppina, Baldo, Chiara, Arado, Alessia, da Silva, Joana Soraia Martinheira, Testa, Barbara, Baldassari, Simona, Zara, Federico, Filaci, Gilberto, Coviello, Domenico, Malacarne, Michela
Published in Stem cell research (01.04.2024)
Published in Stem cell research (01.04.2024)
Get full text
Journal Article
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation
Dębczyński, Michał, Mojsak, Damian, Tamburro, Serena, Baldassari, Simona, Musante, Ilaria, Casciaro, Rosaria, Ciciriello, Fabiana, Zara, Federico, Scudieri, Paolo, Gorrieri, Giulia
Published in Stem cell research (01.10.2023)
Published in Stem cell research (01.10.2023)
Get full text
Journal Article
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
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
Published in Frontiers in neuroscience (11.06.2020)
Published in Frontiers in neuroscience (11.06.2020)
Get full text
Journal Article
Distal motor neuropathy associated with novel EMILIN1 mutation
Iacomino, Michele, Doliana, Roberto, Marchese, Maria, Capuano, Alessandra, Striano, Pasquale, Spessotto, Paola, Bosisio, Giulia, Iodice, Rosa, Manganelli, Fiore, Lanteri, Paola, Orsini, Alessandro, Baldassari, Simona, Baratto, Serena, Fruscione, Floriana, Prada, Valeria, Broda, Paolo, Tessa, Alessandra, Bertocci, Giulia, Schenone, Angelo, Colombatti, Alfonso, Minetti, Carlo, Santorelli, Filippo Maria, Zara, Federico, Fiorillo, Chiara
Published in Neurobiology of disease (01.04.2020)
Published in Neurobiology of disease (01.04.2020)
Get full text
Journal Article
Allelic heterogeneity and abnormal vesicle recycling in PLAA -related neurodevelopmental disorders
Iacomino, Michele, Houerbi, Nadia, Fortuna, Sara, Howe, Jennifer, Li, Shan, Scorrano, Giovanna, Riva, Antonella, Cheng, Kai-Wen, Steiman, Mandy, Peltekova, Iskra, Yusuf, Afiqah, Baldassari, Simona, Tamburro, Serena, Scudieri, Paolo, Musante, Ilaria, Di Ludovico, Armando, Guerrisi, Sara, Balagura, Ganna, Corsello, Antonio, Efthymiou, Stephanie, Murphy, David, Uva, Paolo, Verrotti, Alberto, Fiorillo, Chiara, Delvecchio, Maurizio, Accogli, Andrea, Elsabbagh, Mayada, Houlden, Henry, Scherer, Stephen W, Striano, Pasquale, Zara, Federico, Chou, Tsui-Fen, Salpietro, Vincenzo
Published in Frontiers in molecular neuroscience (08.04.2024)
Published in Frontiers in molecular neuroscience (08.04.2024)
Get full text
Journal Article
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
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
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
Get full text
Journal Article
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2 -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
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
Published in Frontiers in neurology (12.07.2021)
Published in Frontiers in neurology (12.07.2021)
Get full text
Journal Article
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2
Jaudon, Fanny, Baldassari, Simona, Musante, Ilaria, Thalhammer, Agnes, Zara, Federico, Cingolani, Lorenzo A
Published in Biomedicines (05.09.2020)
Published in Biomedicines (05.09.2020)
Get full text
Journal Article
CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reorganization of Mitochondria in the Cystic Fibrosis Bronchial Epithelium
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
Published in Cells (Basel, Switzerland) (16.06.2022)
Published in Cells (Basel, Switzerland) (16.06.2022)
Get full text
Journal Article
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
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
Published in Frontiers in pediatrics (29.04.2022)
Published in Frontiers in pediatrics (29.04.2022)
Get full text
Journal Article
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein
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
Published in PloS one (26.03.2012)
Published in PloS one (26.03.2012)
Get full text
Journal Article
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis
Gazzerro, Elisabetta, Baldassari, Simona, Assereto, Stefania, Fruscione, Floriana, Pistorio, Angela, Panicucci, Chiara, Volpi, Stefano, Perruzza, Lisa, Fiorillo, Chiara, Minetti, Carlo, Traggiai, Elisabetta, Grassi, Fabio, Bruno, Claudio
Published in The American journal of pathology (01.12.2015)
Published in The American journal of pathology (01.12.2015)
Get full text
Journal Article