1. A TRAPPC6B splicing variant associates to restless legs syndrome. (October 2016) Authors: Aridon, Paolo; De Fusco, Maurizio; Winkelmann, Juliane W.; Zucconi, Marco; Arnao, Valentina; Ferini-Strambi, Luigi; Casari, Giorgio Journal: Parkinsonism & related disorders Issue: Volume 31(2016) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Brugada syndrome genetics is associated with phenotype severity. (21st November 2020) Authors: Ciconte, Giuseppe; Monasky, Michelle M; Santinelli, Vincenzo; Micaglio, Emanuele; Vicedomini, Gabriele; Anastasia, Luigi; Negro, Gabriele; Borrelli, Valeria; Giannelli, Luigi; Santini, Francesca; de Innocentiis, Carlo; Rondine, Roberto; Locati, Emanuela T; Bernardini, Andrea; Mazza, Beniamino C; ... Journal: European heart journal Issue: Volume 42:Number 11(2021) Page Start: 1082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder. Issue 1 (6th February 2020) Authors: Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti‐Pierri, Nicola Journal: JIMD reports Issue: Volume 52:Issue 1(2020) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020) Authors: Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timoth... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. Issue 8 (27th June 2016) Authors: Capuani, Clizia; Melone, Marcello; Tottene, Angelita; Bragina, Luca; Crivellaro, Giovanna; Santello, Mirko; Casari, Giorgio; Conti, Fiorenzo; Pietrobon, Daniela Journal: EMBO molecular medicine Issue: Volume 8:Issue 8(2016) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions. (September 2019) Authors: Iure, Antonio de; Mazzocchetti, Petra; Bastioli, Guendalina; Picconi, Barbara; Costa, Cinzia; Marchionni, Ivan; Casari, Giorgio; Tozzi, Alessandro; Pietrobon, Daniela; Calabresi, Paolo Journal: Cephalalgia Issue: Volume 39:Number 10(2019) Page Start: 1333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy. Issue 3 (18th January 2021) Authors: Peretto, Giovanni; Barzaghi, Federica; Cicalese, Maria Pia; Di Resta, Chiara; Slavich, Massimo; Benedetti, Sara; Giangiobbe, Sara; Rizzo, Stefania; Palmisano, Anna; Esposito, Antonio; De Cobelli, Francesco; Gulletta, Simone; Basso, Cristina; Casari, Giorgio; Aiuti, Alessandro; Della Bella, Paolo;... Journal: Pacing and clinical electrophysiology Issue: Volume 44:Issue 3(2021) Page Start: 552 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Importance of Different Types of Prior Knowledge in Selecting Genome‐Wide Findings for Follow‐Up. Issue 2 (10th January 2013) Authors: Minelli, Cosetta; De Grandi, Alessandro; Weichenberger, Christian X.; Gögele, Martin; Modenese, Mirko; Attia, John; Barrett, Jennifer H.; Boehnke, Michael; Borsani, Giuseppe; Casari, Giorgio; Fox, Caroline S.; Freina, Thomas; Hicks, Andrew A.; Marroni, Fabio; Parmigiani, Giovanni; Pastore, Andrea... Journal: Genetic epidemiology Issue: Volume 37:Issue 2(2013) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. Issue 8 (25th March 2019) Authors: Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Issue 6 (11th April 2019) Authors: Cappuccio, Gerarda; Brunetti‐Pierri, Raffaella; Torella, Annalaura; Pinelli, Michele; Castello, Raffaele; Casari, Giorgio; Nigro, Vincenzo; Banfi, Sandro; Simonelli, Francesca; Brunetti‐Pierri, Nicola Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 6(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗