|
| | Publication Year | Title | Author(s) |
| 581 | Oct-2023 | Neuromuscular ultrasound standardized scanning techniques and protocols: Expert panel recommendations. | Tawfik, Eman A; Cartwright, Michael S; van Alfen, Nens; Axer, Hubertus; Boon, Andrea J; Crump, Nicholas H ; Grimm, Alexander; Hobson-Webb, Lisa D; Kerasnoudis, Antonios; Mandeville, Ross; Preston, David C; Sakamuri, Sarada; Shahrizaila, Nortina; Shin, Susan; Shook, Steven J; Wilder-Smith, Einar; Walker, Francis O |
| 582 | 9-Mar-2009 | Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS. | Lillywhite, Leasha M; Saling, Michael M ; Harvey, A Simon; Abbott, David F ; Archer, John S ; Vears, Danya F; Scheffer, Ingrid E ; Jackson, Graeme D |
| 583 | 15-Sep-2023 | Neuropsychological function in psychosis of epilepsy. | Allebone, James; Kanaan, Richard A A ; Rayner, Genevieve ; Maller, Jerome; O'Brien, Terence J; Mullen, Saul A ; Cook, Mark; Adams, Sophia J; Vogrin, Simon; Vaughan, David N; Kwan, Patrick; Berkovic, Samuel F ; D'Souza, Wendyl J; Jackson, Graeme D ; Velakoulis, Dennis; Wilson, Sarah J |
| 4 | 5-Jan-2005 | A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. | Berkovic, Samuel F ; Mazarib, Aziz; Walid, Simri; Neufeld, Miriam Y; Manelis, Judith; Nevo, Yoram; Korczyn, Amos D; Yin, Jinggang; Xiong, Lan; Pandolfo, Massimo; Mulley, John C; Wallace, Robyn H |
| 5 | 19-May-2022 | New remote cerebral microbleeds in acute ischemic stroke: an analysis of the randomized, placebo-controlled WAKE-UP trial. | Braemswig, Tim Bastian; Vynckier, Jan; Jensen, Märit; Boutitie, Florent; Galinovic, Ivana; Simonsen, Claus Z; Cheng, Bastian; Cho, Tae-Hee; Scheitz, Jan F; Fiehler, Jens; Puig, Josep; Thijs, Vincent N ; Fiebach, Jochen B; Muir, Keith W; Nighoghossian, Norbert; Ebinger, Martin; Pedraza, Salvador; Thomalla, Götz; Gerloff, Christian; Endres, Matthias; Lemmens, Robin; Schlemm, Ludwig; Nolte, Christian H |
| 6 | Feb-2021 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F ; Berkovic, Samuel F ; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S ; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L ; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E |
| 7 | May-2019 | No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. | 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; Bellows, Susannah T; Mullen, Saul A ; Berkovic, Samuel F ; Scheffer, Ingrid E ; Caglayan, Hande; Ozbek, Ugur; Hoffmann, Per; Schramm, Sara; Tsortouktzidis, Despina; Becker, Albert J; Sander, Thomas |
| 8 | 6-Aug-2013 | Nodular heterotopia and absence seizures: fMRI evidence that they may be connected. | Carney, Patrick W ; Masterton, Richard A J; Gill, Deepak S; Jackson, Graeme D |
| 9 | Nov-2019 | Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. | van der Veen, Sterre; Zutt, Rodi; Klein, Christine; Marras, Connie; Berkovic, Samuel F ; Caviness, John N; Shibasaki, Hiroshi; de Koning, Tom J; Tijssen, Marina A J |
| 10 | 2019 | Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients. | Alhusaini, Saud; Kowalczyk, Magdalena A; Yasuda, Clarissa L; Semmelroch, Mira K; Katsurayama, Marilise; Zabin, Matheus; Zanão, Tamires; Nogueira, Mateus H; Alvim, Marina K M; Ferraz, Victória R; Tsai, Meng-Han; Fitzsimons, Mary; Lopes-Cendes, Iscia; Doherty, Colin P; Cavalleri, Gianpiero L; Cendes, Fernando; Jackson, Graeme D ; Delanty, Norman |
| 11 | 28-Feb-2013 | 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. | Boissé Lomax, Lysa; Bayly, Marta A; Hjalgrim, Helle; Møller, Rikke S; Vlaar, Annemarie M; Aaberg, Kari M; Marquardt, Iris; Gandolfo, Luke C; Willemsen, Michèl; Kamsteeg, Erik-Jan; O'Sullivan, John D; Korenke, G Christoph; Bloem, Bastiaan R; de Coo, Irenaeus F; Verhagen, Judith M A; Said, Ines; Prescott, Trine; Stray-Pedersen, Asbjørg; Rasmussen, Magnhild; Vears, Danya F; Lehesjoki, Anna-Elina; Corbett, Mark A; Bahlo, Melanie; Gecz, Jozef; Dibbens, Leanne M; Berkovic, Samuel F |
| 12 | 31-Aug-2020 | Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. | Berecki, Géza; Helbig, Katherine L; Ware, Tyson L; Grinton, Bronwyn; Skraban, Cara M; Marsh, Eric D; Berkovic, Samuel F ; Petrou, Steven |
| 13 | Oct-2015 | A novel mutation af CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy | Licchetta, Laura; Bisulli, Francesca; Fietz, M; Valentino, ML; Morbin, Michela; Mostacci, B; Oliver, Karen L; Berkovic, Samuel F ; Tinuper, Paolo |
| 14 | 10-Oct-2022 | De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. | Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F ; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cuscó, Ivon; Janette diMonda, null; Duran-Romaña, Ramon; Ekhilevitch, Nina; Fernández-Alvarez, Paula; Gordon, Christopher T; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M; Muir, Alison M; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E ; Schnur, Rhonda E; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S; Vengoechea, Jaime; Ville, Dorothée; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G; Mefford, Heather C; Peeters, Hilde |
| 15 | 5-Oct-2017 | De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. | Myers, Candace T; Stong, Nicholas; Mountier, Emily I; Helbig, Katherine L; Freytag, Saskia; Sullivan, Joseph E; Ben Zeev, Bruria; Nissenkorn, Andreea; Tzadok, Michal; Heimer, Gali; Shinde, Deepali N; Rezazadeh, Arezoo; Regan, Brigid M; Oliver, Karen L; Ernst, Michelle E; Lippa, Natalie C; Mulhern, Maureen S; Ren, Zhong; Poduri, Annapurna; Andrade, Danielle M; Bird, Lynne M; Bahlo, Melanie; Berkovic, Samuel F ; Lowenstein, Daniel H; Scheffer, Ingrid E ; Sadleir, Lynette G; Goldstein, David B; Mefford, Heather C; Heinzen, Erin L |
| 16 | 13-Jul-2011 | De novo SCN1A mutations in migrating partial seizures of infancy. | Carranza Rojo, D; Hamiwka, L; McMahon, Jacinta M; Dibbens, Leanne M; Arsov, Todor; Suls, A; Stödberg, T; Kelley, K; Wirrell, E; Appleton, B; Mackay, M; Freeman, J L; Yendle, S C; Berkovic, Samuel F ; Bienvenu, T; De Jonghe, Peter; Thorburn, D R; Mulley, John C; Mefford, Heather C; Scheffer, Ingrid E |
| 17 | Feb-2017 | De novo SCN1A pathogenic variants in the GEFS+ spectrum: not always a familial syndrome | Myers, Kenneth A; Burgess, Rosemary; Afawi, Zaid; Damiano, John A; Berkovic, Samuel F ; Hildebrand, Michael S ; Scheffer, Ingrid E |
| 18 | 1-Dec-2008 | Obstetric events as a risk factor for febrile seizures: a community-based twin study. | Helbig, Ingo; Lawrence, Kate M; Connellan, Mary M; Torn-Broers, Yvonne; Vadlamudi, Lata; Eckhaus, Jazmin; Milne, Roger L; Hopper, John L; Berkovic, Samuel F |
| 19 | 1-Apr-2003 | Occipital epilepsies: identification of specific and newly recognized syndromes. | Taylor, Isabella; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 20 | 18-Jan-2021 | Occlusive Disease and Upright Activity in Acute Ischemic Stroke. | Carvalho, Lilian B; Chambers, Brian R ; Borschmann, Karen ; Kaffenberger, Tina; Churilov, Leonid ; Thijs, Vincent N ; Bernhardt, Julie |
