1. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. (15th September 2017) Authors: Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasqual... Other Names: Palotie Aarno investigator.; Folkhälsan Anna‐Elina Lehesjoki investigator.; Ruppert Ann‐Kathrin investigator.; Siren Auli investigator.; Koeleman Bobby investigator.; Lal Dennis investigator.; Becker Felicitas investigator.; Caglayan Hande investigator.; Hjalgrim Helle investigator.; Muhle Hiltru... Journal: Epilepsia Issue: Volume 58:issue 11(2017) Page Start: 1993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues. Issue 20 (8th November 2022) Authors: Romano, Ferruccio; Madia, Francesca; De Marco, Patrizia; Ognibene, Marzia; Guerrisi, Sara; Scala, Marcello; Iacomino, Michele; Baldassari, Simona; Vercellino, Nadia; Manunza, Francesca; Tallone, Ramona; Pavanello, Marco; Piatelli, Gianluca; Garaventa, Alberto; Zara, Federico; Capra, Valeria Journal: Birth defects research Issue: Volume 114:Issue 20(2022) Page Start: 1440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. (10th August 2021) Authors: 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;... Journal: Neurology Issue: Volume 97:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Issue 9 (8th June 2022) Authors: Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margher... Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Emerging treatments for progressive myoclonus epilepsies. (2nd April 2020) Authors: Riva, Antonella; Guglielmo, Alberto; Balagura, Ganna; Marchese, Francesca; Amadori, Elisabetta; Iacomino, Michele; Minassian, Berge Arakel; Zara, Federico; Striano, Pasquale Journal: Expert review of neurotherapeutics Issue: Volume 20:Number 4(2020) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy Course and Developmental Trajectories in STXBP1-DEE. (31st May 2022) Authors: 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, Elis... Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Epilepsy Course and Developmental Trajectories in STXBP1-DEE. (31st May 2022) Authors: 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, Elis... Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. (4th February 2019) Authors: Schulz, Herbert; Ruppert, Ann‐Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; S. Vari, Maria; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Bianchi, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christop... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: e31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. (October 2017) Authors: Accogli, Andrea; Iacomino, Michele; Pinto, Francesca; Orsini, Alessandro; Vari, Maria Stella; Selmi, Raed; Torella, Annalaura; Nigro, Vincenzo; Minetti, Carlo; Severino, Mariasavina; Striano, Pasquale; Capra, Valeria; Zara, Federico Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗