日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Clobazam versus corticosteroid for developmental and epileptic encephalopathy with spike-wave activation in sleep ((D)EE-SWAS): Results of a multicenter observational study

氯巴占与皮质类固醇治疗睡眠期棘慢波激活发育性和癫痫性脑病((D)EE-SWAS):一项多中心观察性研究的结果

van Arnhem, Marleen M L; Vijn, Linde J; Rubboli, Guido; Khinchi, Marianne Søndergaard; Dimova, Petia; Perucca, Emilio; De Giorgis, Valentina; Metsähonkala, Liisa; Ramantani, Georgia; Jansen, Anna; Chin, Richard; Lagae, Lieven; Arzimanoglou, Alexis; Otte, Wim M; Leijten, Frans S S; van Teeseling, Heleen C; Braun, Kees P J; Jansen, Floor E; van den Munckhof, Bart

A global perspective on transitioning from pediatric to adult care in epilepsy

从全球视角看癫痫治疗从儿科到成人的过渡

Andrade, Danielle M; Jetté, Nathalie; Chandran, Ilakkiah; Patel, Puja; Rubboli, Guido; Cross, J Helen; Craiu, Dana; Tan, Chong Tin; Kija, Edward; Fung, Eva; Granata, Tiziana; Hosny, Hassan; Mula, Marco; Riney, Kate; Shellhaas, Renée A; Siddiqui, Maria; Zulfiqar Ali, Quratulain; Hébert, Julien; Marques, Paula; Kerrigan, Bronte; Ji, Caihong; Valente, Kette; Carrizosa, Jaime; Nabbout, Rima

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

癫痫研究优先领域:欧洲罕见和复杂癫痫参考网络 EpiCARE 的立场文件

Tchaicha, Sébile; Auvin, Stéphane; Beniczky, Sándor; Brunklaus, Andreas; Lagae, Lieven; Perucca, Emilio; Surges, Rainer; Adler, Sophie; Helmstaedter, Christoph; Jansen, Floor; Rubboli, Guido; Ryvlin, Philippe; Specchio, Nicola; Trinka, Eugen; Blümcke, Ingmar; de Giorgis, Valentina; Kotulska, Katarzyna; Lesca, Gaetan; Malenica, Masa; McTague, Amy; Nabbout, Rima; Møller, Rikke Steensbjerre; Arrieta, Sandra Silva; Brambilla, Isabella; Kosla, Małgorzata; Braun, Kees; Cross, J Helen; Arzimanoglou, Alexis

Antithrombotic drugs for acute coronary syndromes in women: sex-adjusted treatment and female representation in randomised clinical trials. A clinical consensus statement of the European Association of Percutaneous Cardiovascular Interventions (EAPCI) and the ESC Working Group on Thrombosis

女性急性冠脉综合征抗血栓药物治疗:性别调整治疗及女性在随机临床试验中的参与度。欧洲经皮心血管介入协会 (EAPCI) 和欧洲心脏病学会 (ESC) 血栓工作组临床共识声明

Paradies, Valeria; Masiero, Giulia; Rubboli, Andrea; Van Beusekom, Heleen M M; Costa, Francesco; Capranzano, Piera; Degrauwe, Sophie; Gorog, Diana A; Jorge, Claudia Moreira; Buchanan, Gill Louise; Alasnag, Mirvat; Trabattoni, Daniela; Fraccaro, Chiara; Sibbing, Dirk; Dudek, Dariusz; Vilahur, Gemma; Chieffo, Alaide; Mehran, Roxana; Capodanno, Davide; Barbato, Emanuele; Siller-Matula, Jolanta M

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

致病性GABRG2功能丧失和功能获得变异个体的表型谱

Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K

Unmasking the role of the occipital lobe in epilepsy with eyelid myoclonia

揭示枕叶在伴有眼睑肌阵挛的癫痫中的作用

Ricci, Emilia; Mieszczanek, Tomasz Stanislaw; Zilmer, Monica; Cebula, Katarzyna; Juhl, Stefan; Nikanorova, Marina; Mieszczanek, Katarzyna Maria; Khinchi, Marianne Søndergaard; Hesslow, Britta Inga Ulfsdotter; Thygesen, Kristin Siølie; Pedersen, Charlotte Reinhardt; Olofsson, Kern; Wüstenhagen, Stephan; Møller, Rikke; Rubboli, Guido; Beniczky, Sándor; Gardella, Elena

Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry

家族性和散发性SCN8A自限性婴儿癫痫的差异性预后:来自大型国际注册研究的启示

Furia, Francesca; Gverdtsiteli, Sopio; Janzarik, Wibke; Korff, Christian; Lesca, Gaetan; Mancardi, Maria Margherita; Montomoli, Martino; Nikanorova, Marina; Romaniello, Romina; Rubboli, Guido; Syrbe, Steffen; Vigevano, Federico; Møller, Rikke S; Gardella, Elena

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy

ATP6V0C基因变异与Dravet样发育性癫痫性脑病相关。

Rong, Marlene; Marques, Paula T; Ali, Quratulain Zulfiqar; Morcos, Ricardo; Chandran, Ilakkiah; Qaiser, Farah; Møller, Rikke S; Bayat, Allan; Rubboli, Guido; Gardella, Elena; Reuter, Miriam S; Sands, Tristan T; Scheffer, Ingrid E; Schneider, Amy; Poduri, Annapurna; Wirrell, Elaine; Nabbout, Rima; Sullivan, Joseph; Valente, Kette; Auvin, Stéphane; Knupp, Kelly G; Brunklaus, Andreas; Aledo-Serrano, Ángel; Andrade, Danielle M