未登录 Transition from paediatric to adult care in paediatric-onset neurological disorders in Europe: A survey and scoping review 欧洲儿科起病神经系统疾病患者从儿科到成人科的过渡：一项调查和范围综述 Craiu, Dana; Papadopoulou, Maria T.; Mrak, Jasna Orazem; Butenko, Tita; Saarela, Anni; Cazacu, Cristina; Raluca, Niculae; Serdaroglu, Esra; Malenica, Masa; Vigevano, Federico; Zafeiriou, Dimitrios; Gorman, Kathleen M.; Ming, Lim; Bahi-Buisson, Nadia; Rostasy, Kevin; Kopyta, Ilona Anna; Sejersen, Thomas; Lin, Jean-Pierre; Suppiej, Agnese; Zuberi, Sameer M. 分享 收藏
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A practical guide to the updated seizure classification 2025 2025年更新版癫痫分类实用指南 Beniczky, Sandor; Trinka, Eugen; Wirrell, Elaine; Singh, Mamta Bhushan; Blumenfeld, Hal; Bogacz Fressola, Alicia; Cendes, Fernando; Craiu, Dana; Frauscher, Birgit; Jansen, Floor E.; Kahane, Philippe; Kander, Veena; Kishk, Nirmeen; Khoo, Ching Soong; Lizcano, Angelica; De Palma, Luca; Ryvlin, Philippe; Specchio, Nicola; Sperling, Michael R.; Tatum, William; Yacubian, Elza Marcia; Wilmshurst, Jo; Cross, J. Helen 分享 收藏
Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective Study 罗马尼亚杜氏和贝氏肌营养不良症：一项为期10年的回顾性研究 Nedelcu, Maria; Craiu, Dana; Neagu, Elena; Burloiu, Carmen Magdalena; Iliescu, Catrinel Mihaela; Budisteanu, Magdalena; Minciu, Ioana; Barca, Diana Gabriela; Sandu, Carmen; Tarta-Arsene, Oana; Pomeran, Cristina; Motoescu, Cristina; Dica, Alice; Anghelescu, Cristina; Surlica, Dana; Iancu, Daniela; Butoianu, Niculina 分享 收藏
Updated classification of epileptic seizures: position paper of the International League Against Epilepsy 癫痫发作的更新分类：国际抗癫痫联盟立场文件 Beniczky, Sandor; Trinka, Eugen; Wirrell, Elaine; Abdulla, Fatema; Al Baradie, Raida; Alonso Vanegas, Mario; Auvin, Stephane; Singh, Mamta Bhushan; Blumenfeld, Hal; Bogacz Fressola, Alicia; Caraballo, Roberto; Carreno, Mar; Cendes, Fernando; Charway, Augustina; Cook, Mark; Craiu, Dana; Ezeala-Adikaibe, Birinus; Frauscher, Birgit; French, Jacqueline; Gule, M. V.; Higurashi, Norimichi; Ikeda, Akio; Jansen, Floor E.; Jobst, Barbara; Kahane, Philippe; Kishk, Nirmeen; Khoo, Ching Soon; Vinayan, Kollencheri Puthenveettil; Lagae, Lieven; Lim, Khen-Seang; Lizcano, Angelica; Mcgonigal, Aileen; Perez-Gosiengfiao, Katerina Tanya; Ryvlin, Philippe; Specchio, Nicola; Sperling, Michael; Stefan, Hermann; Tatum, William; Tripathi, Manjari; Yacubian, Elza Marcia; Wiebe, Samuel; Wilmshurst, Jo; Zhou, Dong; Cross, J. Helen 分享 收藏
Sport Activities for Children and Adolescents: Part 2. Joint Position Statement of Paediatric Societies on Physical Activity and Sport Recommendations for Children With Specific Chronic Disease Conditions 儿童和青少年体育活动：第2部分。儿科学会关于儿童特定慢性疾病状况下身体活动和体育活动建议的联合立场声明 Wyszynska, Justyna; Turska-Kmiec, Anna; Neunhaeuserer, Daniel; di Salvo, Giovani; del Torso, Stefano; Koletzko, Berthold; Yildiz, Suleyman; Grossman, Zacchi; Hadjipanayis, Adamos; Jackowska, Teresa; De Guchtenaere, Ann; Haffner, Dieter; Bacchetta, Justine; Jelusic, Marija; Ruggiero, Antonio; Nenna, Rafaella; Cilio, Maria Roberta; Craiu, Dana; Neves, Ana Margarida; Titomanlio, Luigi; Mazur, Artur 分享 收藏
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Molecular and Phenotypic Characterization of the RORB-Related Disorder Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan 分享 收藏
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study van Geest, Ferdy S.; Groeneweg, Stefan; van den Akker, Erica L. T.; Bacos, Iuliu; Barca, Diana; van den Berg, Sjoerd A. A.; Bertini, Enrico; Brunner, Doris; Brunetti-Pierri, Nicola; Cappa, Marco; Cappuccio, Gerarda; Chatterjee, Krishna; Chesover, Alexander D.; Christian, Peter; Coutant, Regis; Craiu, Dana; Crock, Patricia; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi R.; George, Belinda; Hackenberg, Annette; Heinrich, Bianka; Huynh, Tony; Klosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E.; Paone, Laura; Paul, Praveen G.; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B.; Seckold, Rowen; Menevse, Tuba Seven; Simm, Peter; Simon, Anna; Spada, Marco; Stoupa, Athanasia; Szeifert, Lilla; Tonduti, Davide; van Toor, Hans; Turan, Serap; Vanderniet, Joel; de Waart, Monique; van der Wal, Ronald; van der Walt, Adri; Van Wermeskerken, Anne-Marie; Wierzba, Jolanta; Zibordi, Federica; Zung, Amnon; Peeters, Robin P.; Visser, W. Edward 分享 收藏
Behavior problems associated with brain heterotopia Budisteanu, M.; Papuc, S.; Erbescu, A.; Iliescu, C.; Dobre, M.; Barca, D.; Tarta-Arsene, O.; Motoescu, C.; Dica, A.; Sandu, C.; Anghelescu, C.; Craiu, D.; Arghir, A. 分享 收藏
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants inSLC13A5gene 由slc13a5基因的常染色体隐性变异引起的新生儿发育性和癫痫性脑病 Matricardi, Sara; De Liso, Paola; Freri, Elena; Costa, Paola; Castellotti, Barbara; Magri, Stefania; Gellera, Cinzia; Granata, Tiziana; Musante, Luciana; Lesca, Gaetan; Oertel, Julie; Craiu, Dana; Hammer, Trine B.; Moller, Rikke S.; Barisic, Nina; Abou Jamra, Rami; Polster, Tilman; Vigevano, Federico; Marini, Carla 分享 收藏
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Duhring; Schorge, Stephanie; Baez-Nieto, David; Wang, Hao-Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; Sheidley, Beth R.; Craiu, Dana; Olson, Heather E.; Weckhuysen, Sarah; DeJonge, Peter; Helbig, Ingo; Van Esch, Hilde; Busa, Tiffany; Milh, Matthieu; Isidor, Bertrand; Depienne, Christel; Poduri, Annapurna; Campbell, Arthur J.; Dimidschstein, Jordane; Moller, Rikke S.; Lal, Dennis 分享 收藏
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy AP2M1中的复发性错义变体会损害网格蛋白介导的内吞作用，并导致发育性和癫痫性脑病 Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter 分享 收藏
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter 分享 收藏
De novo variants in neurodevelopmental disorders with epilepsy Heyne, Henrike O.; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Guerrini, Renzo; Helbig, Katherine L.; Koeleman, Bobby P. C.; Kosmicki, Jack A.; Linnankivi, Tarja; May, Patrick; Muhle, Hiltrud; Moller, Rikke S.; Neubauer, Bernd A.; Palotie, Aarno; Pendziwiat, Manuela; Striano, Pasquale; Tang, Sha; Wu, Sitao; Poduri, Annapurna; Weber, Yvonne G.; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Daly, Mark J.; Helbig, Ingo; Lal, Dennis; Lemke, Johannes R. 分享 收藏
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy (vol 7, pg 1580, 2015) 癫痫性脑病患者中突变的gephyrin的神经元和代谢功能同时受损 (第7卷，1580页，2015) Dejanovic, Borislav; Djemie, Tania; Grunewald, Nora; Suls, Arvid; Kress, Vanessa; Hetsch, Florian; Craiu, Dana; Zemel, Matthew; Gormley, Padhraig; Lal, Dennis; Myers, Candace T.; Mefford, Heather C.; Palotie, Aarno; Helbig, Ingo; Meier, Jochen C.; De Jonghe, Peter; Weckhuysen, Sarah; Schwarz, Guenter 分享 收藏
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Moller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Sondergard, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H. G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klein, Karl M.; Reif, Philipp S.; Rosenow, Felix; Elias, Abdallah F.; Hudson, Cindy; Helbig, Katherine L.; Schubert-Bast, Susanne; Scordo, Maria R.; Craiu, Dana; Djemie, Tania; Hoffman-Zacharska, Dorota; Caglayan, Hande; Helbig, Ingo; Serratosa, Jose; Striano, Pasquale; De Jonghe, Peter; Weckhuysen, Sarah; Suls, Arvid; Muru, Kai; Talvik, Inga; Talvik, Tiina; Muhle, Hiltrud; Borggraefe, Ingo; Rost, Imma; Guerrini, Renzo; Lerche, Holger; Lemke, Johannes R.; Rubboli, Guido; Maljevic, Snezana 分享 收藏
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