Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy

بواسطة Striano, Pasquale, Nobile, Carlo
الحاوية / القاعدة Neurol Genet (2018)

A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins

بواسطة Leonardi, Emanuela, Andreazza, Simonetta, Vanin, Stefano, Busolin, Giorgia, Nobile, Carlo, Tosatto, Silvio C. E.
منشور في 2011

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

بواسطة Dazzo, Emanuela, Leonardi, Emanuela, Belluzzi, Elisa, Malacrida, Sandro, Vitiello, Libero, Greggio, Elisa, Tosatto, Silvio C. E., Nobile, Carlo
الحاوية / القاعدة PLoS Genet (2016)

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

بواسطة Guerrero, Rosa, Vernia, Santiago, Sanz, Raúl, Abreu-Rodríguez, Irene, Almaraz, Carmen, García-Hoyos, María, Michelucci, Roberto, Tassinari, Carlo Alberto, Riguzzi, Patrizia, Nobile, Carlo, Sanz, Pascual, Serratosa, José M., Gómez-Garre, Pilar
منشور في 2011

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

بواسطة Michelucci, Roberto, Pulitano, Patrizia, Di Bonaventura, Carlo, Binelli, Simona, Luisi, Concetta, Pasini, Elena, Striano, Salvatore, Striano, Pasquale, Coppola, Giangennaro, La Neve, Angela, Giallonardo, Anna Teresa, Mecarelli, Oriano, Serioli, Elena, Dazzo, Emanuela, Fanciulli, Manuela, Nobile, Carlo
الحاوية / القاعدة Epilepsy Behav (2017)

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

بواسطة Li Mura, Ilena Egle Astrid, Bauce, Barbara, Nava, Andrea, Fanciulli, Manuela, Vazza, Giovanni, Mazzotti, Elisa, Rigato, Ilaria, De Bortoli, Marzia, Beffagna, Giorgia, Lorenzon, Alessandra, Calore, Martina, Dazzo, Emanuela, Nobile, Carlo, Luisa Mostacciuolo, Maria, Corrado, Domenico, Basso, Cristina, Daliento, Luciano, Thiene, Gaetano, Rampazzo, Alessandra
منشور في 2013

ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy

بواسطة Rigon, Laura, Vettori, Andrea, Busolin, Giorgia, Egeo, Gabriella, Pulitano, Patrizia, Santulli, Lia, Pasini, Elena, Striano, Pasquale, la Neve, Angela, Vianello Dri, Valeria, Boniver, Clementina, Gambardella, Antonio, Banfi, Paola, Binelli, Simona, Di Bonaventura, Carlo, Striano, Salvatore, de Falco, Fabrizio, Giallonardo, Anna T., Mecarelli, Oriano, Michelucci, Roberto, Nobile, Carlo
منشور في 2011

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

بواسطة Dazzo, Emanuela, Fanciulli, Manuela, Serioli, Elena, Minervini, Giovanni, Pulitano, Patrizia, Binelli, Simona, Di Bonaventura, Carlo, Luisi, Concetta, Pasini, Elena, Striano, Salvatore, Striano, Pasquale, Coppola, Giangennaro, Chiavegato, Angela, Radovic, Slobodanka, Spadotto, Alessandro, Uzzau, Sergio, La Neve, Angela, Giallonardo, Anna Teresa, Mecarelli, Oriano, Tosatto, Silvio C.E., Ottman, Ruth, Michelucci, Roberto, Nobile, Carlo
الحاوية / القاعدة Am J Hum Genet (2015)