1. A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome. (July 2020) Authors: Terrone, Gaetano; Marchese, Francesca; Vari, Maria Stella; Severino, Mariasavina; Madia, Francesca; Amadori, Elisabetta; Del Giudice, Ennio; Romano, Alfonso; Gennaro, Elena; Zara, Federico; Striano, Pasquale Journal: Seizure Issue: Volume 79(2020) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype. (May 2018) Authors: Iapadre, Giulia; Morana, Giovanni; Vari, Maria Stella; Pinto, Francesca; Lanteri, Paola; Tessa, Alessandra; Santorelli, Filippo Maria; Striano, Pasquale; Verrotti, Alberto Journal: European journal of paediatric neurology Issue: Volume 22:Number 3(2018:May) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel Xp22.13 microdeletion in Nance‐Horan syndrome. Issue 11 (2nd May 2017) Authors: Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria Journal: Birth defects research Issue: Volume 109:Issue 11(2017) Page Start: 866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy. (July 2019) Authors: Scala, Marcello; Amadori, Elisabetta; Fusco, Lucia; Marchese, Francesca; Capra, Valeria; Minetti, Carlo; Vari, Maria Stella; Striano, Pasquale Journal: European journal of paediatric neurology Issue: Volume 23:Number 4(2019:Jul.) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients. (September 2020) Authors: Balagura, Ganna; Riva, Antonella; Marchese, Francesca; Iacomino, Michele; Madia, Francesca; Giacomini, Thea; Mancardi, Maria Margherita; Amadori, Elisabetta; Vari, Maria Stella; Salpietro, Vincenzo; Russo, Angelo; Messana, Tullio; Vignoli, Aglaia; Chiesa, Valentina; Giordano, Lucio; Accorsi, Patr... Journal: European journal of paediatric neurology Issue: Volume 28(2020) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy. Issue 12 (8th April 2017) Authors: Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy. (June 2017) Authors: Plecko, Barbara; Zweier, Markus; Begeman, Anais; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M.; Joset, Pascal; Sticht, Heinrich; Papuc, Mihaela S.; Rauch, Anita Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Current and promising therapeutic options for Dravet syndrome. (13th October 2022) Authors: Riva, Antonella; D'Onofrio, Gianluca; Amadori, Elisabetta; Tripodi, Domenico; Balagura, Ganna; Iurilli, Valentina; Vari, Maria Stella; Verrotti, Alberto; Striano, Pasquale Journal: Expert opinion on pharmacotherapy Issue: Volume 23:Number 15(2022) Page Start: 1727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy. (August 2017) Authors: Vari, Maria Stella; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Minetti, Carlo; Striano, Pasquale; Zara, Federico Journal: Seizure Issue: Volume 50(2017) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021) Authors: Raviglione, Federico; Douzgou, Sofia; Scala, Marcello; Mingarelli, Alessia; D'Arrigo, Stefano; Freri, Elena; Darra, Francesca; Giglio, Sabrina; Bonaglia, Maria C; Pantaleoni, Chiara; Mastrangelo, Massimo; Epifanio, Roberta; Elia, Maurizio; Saletti, Veronica; Morlino, Silvia; Vari, Maria Stella; D... Journal: Seizure Issue: Volume 88(2021) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗