1. A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. (November 2016) Authors: Maltoni, Giulio; Minardi, Raffaella; Cristalli, Carlotta Pia; Nardi, Laura; D'Alberton, Franco; Mantovani, Vilma; Zucchini, Stefano Journal: Diabetes research and clinical practice Issue: Volume 121(2016) Page Start: 59 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation. Issue 4 (19th September 2020) Authors: Michelucci, Roberto; Dazzo, Emanuela; Volpi, Lilia; Pasini, Elena; Riguzzi, Patrizia; Minardi, Raffaella; Marliani, Anna Federica; Tappatà, Maria; Bisulli, Francesca; Tassinari, Carlo Alberto; Nobile, Carlo Journal: Epileptic disorders Issue: Volume 22:Issue 4(2020) Page Start: 443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy. (7th December 2022) Authors: Licchetta, Laura; Minardi, Raffaella; Muccioli, Lorenzo; Gramegna, Laura Ludovica; Manners, David Neil; Tonon, Caterina; Bisulli, Francesca; Tinuper, Paolo Journal: Neurology Issue: Volume 8:Number 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. Issue 3 (25th February 2019) Authors: Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Hea... Other Names: Bianchi Amedeo investigator.; Striano Pasquale investigator.; Gambardella Antonio investigator.; Meletti Stefano investigator.; Dilena Roberto investigator.; Santucci Margherita investigator.; Marini Carla investigator.; Vignoli Aglaia investigator.; Gobbi Giuseppe investigator.; Briatore Eleonor... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency. Issue 4 (17th August 2022) Authors: Cani, Ilaria; Pondrelli, Federica; Licchetta, Laura; Minardi, Raffaella; Giangregorio, Tania; Mostacci, Barbara; Muccioli, Lorenzo; Di Vito, Lidia; Fetta, Anna; Barba, Carmen; Castioni, Carlo Alberto; Bordugo, Andrea; Tinuper, Paolo; Bisulli, Francesca Journal: Epilepsia open Issue: Volume 7:Issue 4(2022) Page Start: 810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy. Issue 3 (21st January 2021) Authors: Licchetta, Laura; Ferri, Lorenzo; La Morgia, Chiara; Zenesini, Corrado; Caporali, Leonardo; Lucia Valentino, Maria; Minardi, Raffaella; Fulitano, Daniela; Di Vito, Lidia; Mostacci, Barbara; Alvisi, Lara; Avoni, Patrizia; Liguori, Rocco; Tinuper, Paolo; Bisulli, Francesca; Carelli, Valerio Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 3(2021) Page Start: 704 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene. (December 2020) Authors: Mastrangelo, Vincenzo; Minardi, Raffaella; Baroni, Maria Chiara; Severi, Giulia; Ambrosini, Enrico; Toni, Francesco; Alvisi, Lara; Licchetta, Laura; Bisulli, Francesca; Tinuper, Paolo; Mostacci, Barbara Journal: Seizure Issue: Volume 83(2020) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts. Issue 11 (14th November 2022) Authors: Percetti, Marco; Monfrini, Edoardo; Caporali, Leonardo; Minardi, Raffaella; Carelli, Valerio; Valente, Enza Maria; Di Fonzo, Alessio Journal: Movement disorders Issue: Volume 37:Issue 11(2022) Page Start: 2319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. Issue 2 (30th April 2019) Authors: Bisulli, Francesca; Licchetta, Laura; Baldassari, Sara; Muccioli, Lorenzo; Marconi, Caterina; Cantalupo, Gaetano; Myers, Candace; Menghi, Veronica; Minardi, Raffaella; Caporali, Leonardo; Marini, Carla; Guerrini, Renzo; Mefford, Heather C.; Tinuper, Paolo; Pippucci, Tommaso Journal: Epileptic disorders Issue: Volume 21:Issue 2(2019) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients. (January 2020) Authors: Bianchi, Amedeo; Striano, Pasquale; Gambardella, Antonio; Giordano, Lucio; Santucci, Margherita; Meletti, Stefano; Crichiutti, Giovanni; Marini, Carla; Vignoli, Aglaia; Dilena, Roberto; Briatore, Eleonora; Licchetta, Laura; Pippucci, Tommaso; Baldassari, Sara; Minardi, Raffaella; Provini, Federic... Journal: Seizure Issue: Volume 74(2019) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗