1. 328 IMPACT OF INTEGRATED CARE WITH ABC PATHWAY IN PATIENTS WITH ATRIAL FIBRILLATION AND HEART FAILURE: DATA FROM MORE THAN 11000 PATIENTS ENROLLED IN A EUROPEAN REGISTRY. (15th December 2022) Authors: Bonini, Niccolo´; Proeitti, Marco; Vitolo, Marco; Romiti, Giulio Francesco; Imberti, Jacopo Francesco; Mei, Davide; Marta, Mantovani; Righelli, Ilaria; Marconi, Irma; Gerra, Luigi; Malavasi, Vincenzo Livio; Lip, Gregory Y h; Boriani, Giuseppe Journal: European heart journal supplements Issue: Volume 24(2022)Supplement K Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3. (November 2019) Authors: Mastrangelo, Mario; Mei, Davide; Cesario, Serena; Fioriello, Francesca; Bernardini, Laura; Brinciotti, Mario; Guerrini, Renzo; Leuzzi, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 68(2019) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. (November 2018) Authors: Di Donato, Nataliya; Timms, Andrew; Aldinger, Kimberly; Mirzaa, Ghayda; Bennett, James; Collins, Sarah; Olds, Carissa; Mei, Davide; Chiari, Sara; Carvill, Gemma; Myers, Candace; Rivière, Jean-Baptiste; Zaki, Maha; Gleeson, Joseph; Rump, Andreas; Conti, Valerio; Parrini, Elena; Ross, M; Ledbetter,... Journal: Genetics in medicine Issue: Volume 20:Number 11(2018) Page Start: 1354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CDKL5 deficiency disorder in males: Five new variants and review of the literature. (July 2021) Authors: Siri, Barbara; Varesio, Costanza; Freri, Elena; Darra, Francesca; Gana, Simone; Mei, Davide; Porta, Francesco; Fontana, Elena; Galati, Giulia; Solazzi, Roberta; Niceta, Marcello; Veggiotti, Pierangelo; Alfei, Enrico Journal: European journal of paediatric neurology Issue: Volume 33(2021) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015) Authors: Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri... Journal: Lancet neurology Issue: Volume 14:Issue 12(2015:Dec.) Page Start: 1182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. (14th March 2017) Authors: Cetica, Valentina; Chiari, Sara; Mei, Davide; Parrini, Elena; Grisotto, Laura; Marini, Carla; Pucatti, Daniela; Ferrari, Annarita; Sicca, Federico; Specchio, Nicola; Trivisano, Marina; Battaglia, Domenica; Contaldo, Ilaria; Zamponi, Nelia; Petrelli, Cristina; Granata, Tiziana; Ragona, Francesca; ... Journal: Neurology Issue: Volume 88:Number 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders. Issue 5 (31st August 2021) Authors: Nøstvik, Miriam; Kateta, Sarah M.; Schönewolf‐Greulich, Bitten; Afenjar, Alexandra; Barth, Magalie; Boschann, Felix; Doummar, Diane; Haack, Tobias B.; Keren, Boris; Livshits, Ludmila A.; Mei, Davide; Park, Joohyun; Pisano, Tiziana; Prouteau, Clement; Umair, Muhammad; Waqas, Ahmed; Ziegler, Alban;... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. (December 2017) Authors: Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019) Authors: Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study. (19th November 2018) Authors: Trivisano, Marina; Pietrafusa, Nicola; Terracciano, Alessandra; Marini, Carla; Mei, Davide; Darra, Francesca; Accorsi, Patrizia; Battaglia, Domenica; Caffi, Lorella; Canevini, Maria P.; Cappelletti, Simona; Cesaroni, Elisabetta; de Palma, Luca; Costa, Paola; Cusmai, Raffaella; Giordano, Lucio; Fe... Journal: Epilepsia Issue: Volume 59:issue 12(2018) Page Start: 2260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗