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Kerestes, Rebecca; Perry, Andrew; Vivash, Lucy; O'Brien, Terence J; Alvim, Marina K M; Arienzo, Donatello; Aventurato, Ítalo K; Ballerini, Alice; Baltazar, Gabriel F; Bargalló, Núria; Bender, Benjamin; Brioschi, Ricardo; Bürkle, Eva; Caligiuri, Maria Eugenia; Cendes, Fernando; de Tisi, Jane; Duncan, John S; Engel, Jerome P; Foley, Sonya; Fortunato, Francesco; ... (2024). Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia, 65(4), pp. 1072-1091. Wiley-Blackwell 10.1111/epi.17881
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463
Lopez, Seymour M; Aksman, Leon M; Oxtoby, Neil P; Vos, Sjoerd B; Rao, Jun; Kaestner, Erik; Alhusaini, Saud; Alvim, Marina; Bender, Benjamin; Bernasconi, Andrea; Bernasconi, Neda; Bernhardt, Boris; Caciagli, Lorenzo; Caldairou, Benoit; Caligiuri, Maria Eugenia; Calvet, Angels; Cendes, Fernando; Concha, Luis; Conde-Blanco, Estefania; Davoodi-Bojd, Esmaeil; ... (2022). Event-based modelling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data. Epilepsia, 63(8), pp. 2081-2095. Wiley 10.1111/epi.17316
Larivière, Sara; Royer, Jessica; Rodríguez-Cruces, Raúl; Paquola, Casey; Caligiuri, Maria Eugenia; Gambardella, Antonio; Concha, Luis; Keller, Simon S; Cendes, Fernando; Yasuda, Clarissa L; Bonilha, Leonardo; Gleichgerrcht, Ezequiel; Focke, Niels K; Domin, Martin; von Podewills, Felix; Langner, Soenke; Rummel, Christian; Wiest, Roland; Martin, Pascal; Kotikalapudi, Raviteja; ... (2022). Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression. Nature Communications, 13(1), p. 4320. Springer Nature 10.1038/s41467-022-31730-5
Park, Bo-Yong; Larivière, Sara; Rodríguez-Cruces, Raul; Royer, Jessica; Tavakol, Shahin; Wang, Yezhou; Caciagli, Lorenzo; Caligiuri, Maria Eugenia; Gambardella, Antonio; Concha, Luis; Keller, Simon S; Cendes, Fernando; Alvim, Marina K M; Yasuda, Clarissa; Bonilha, Leonardo; Gleichgerrcht, Ezequiel; Focke, Niels K; Kreilkamp, Barbara A K; Domin, Martin; von Podewils, Felix; ... (2022). Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy. Brain : a journal of neurology, 145(4), pp. 1285-1298. Oxford University Press 10.1093/brain/awab417
Altmann, Andre; Ryten, Mina; Di Nunzio, Martina; Ravizza, Teresa; Tolomeo, Daniele; Reynolds, Regina H; Somani, Alyma; Bacigaluppi, Marco; Iori, Valentina; Micotti, Edoardo; Di Sapia, Rossella; Cerovic, Milica; Palma, Eleonora; Ruffolo, Gabriele; Botía, Juan A; Absil, Julie; Alhusaini, Saud; Alvim, Marina K M; Auvinen, Pia; Bargallo, Nuria; ... (2022). A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies. Neuropathology and Applied Neurobiology, 48(1), e12758. Wiley 10.1111/nan.12758
Sisodiya, Sanjay M; Whelan, Christopher D; Hatton, Sean N; Huynh, Khoa; Altmann, Andre; Ryten, Mina; Vezzani, Annamaria; Caligiuri, Maria Eugenia; Labate, Angelo; Gambardella, Antonio; Ives-Deliperi, Victoria; Meletti, Stefano; Munsell, Brent C; Bonilha, Leonardo; Tondelli, Manuela; Rebsamen, Michael; Rummel, Christian; Vaudano, Anna Elisabetta; Wiest, Roland; Balachandra, Akshara R; ... (2022). The ENIGMA-Epilepsy working group: Mapping disease from large data sets. Human brain mapping, 43(1), pp. 113-128. Wiley-Blackwell 10.1002/hbm.25037
Larivière, Sara; Rodríguez-Cruces, Raúl; Royer, Jessica; Caligiuri, Maria Eugenia; Gambardella, Antonio; Concha, Luis; Keller, Simon S; Cendes, Fernando; Yasuda, Clarissa; Bonilha, Leonardo; Gleichgerrcht, Ezequiel; Focke, Niels K; Domin, Martin; von Podewills, Felix; Langner, Soenke; Rummel, Christian; Wiest, Roland; Martin, Pascal; Kotikalapudi, Raviteja; O'Brien, Terence J; ... (2020). Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study. Science Advances, 6(47) American Association for the Advancement of Science 10.1126/sciadv.abc6457
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, Christoph J.; Kunz, Wolfram S; Møller, Rikke S; Oliver, Karen L; ... (2019). No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. Epilepsia, 60(5), e31-e36. Wiley-Blackwell 10.1111/epi.14657
Kortüm, Fanny; Jamra, Rami Abou; Alawi, Malik; Berry, Susan A; Borck, Guntram; Helbig, Katherine L; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R; Kutsche, Kerstin (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European journal of human genetics, 26(5), pp. 695-708. Nature Publishing Group 10.1038/s41431-018-0098-2
Whelan, Christopher D; Altmann, Andre; Botía, Juan A; Jahanshad, Neda; Hibar, Derrek P; Absil, Julie; Alhusaini, Saud; Alvim, Marina K M; Auvinen, Pia; Bartolini, Emanuele; Bergo, Felipe P G; Bernardes, Tauana; Blackmon, Karen; Braga, Barbara; Caligiuri, Maria Eugenia; Calvo, Anna; Carr, Sarah J; Chen, Jian; Chen, Shuai; Cherubini, Andrea; ... (2018). Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain, 141(2), pp. 391-408. Oxford University Press 10.1093/brain/awx341
Tinuper, Paolo; Bisulli, Francesca; Cross, J H; Hesdorffer, Dale; Kahane, Philippe; Nobili, Lino; Provini, Federica; Scheffer, Ingrid E; Tassi, Laura; Vignatelli, Luca; Bassetti, Claudio; Cirignotta, Fabio; Derry, Christopher; Gambardella, Antonio; Guerrini, Renzo; Halasz, Peter; Licchetta, Laura; Mahowald, Mark; Manni, Raffaele; Marini, Carla; ... (2016). Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology, 86(19), pp. 1834-1842. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002666
Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, José; Lemke, Johannes; ... (2013). De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. American journal of human genetics, 93(5), pp. 967-975. Cell Press 10.1016/j.ajhg.2013.09.017
