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

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

Epilepsy concordance in monozygotic twins: the role of common genetic variants

单卵双胞胎癫痫一致性:常见遗传变异的作用

Dang, Yew Li; Oliver, Karen L; Esnault, Kate; Bahlo, Melanie; Perucca, Piero; Berkovic, Samuel F

International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey

关于下丘脑错构瘤评估和管理的国际共识:一项改良德尔菲调查的结果

Cohen, Nathan T; Li, Xiaotong; Berl, Madison M; Oluigbo, Chima O; Shirozu, Hiroshi; Berkovic, Samuel F; Zacharin, Margaret; Maixner, Wirginia; Schulze-Bonhage, Andreas; Klotz, Kerstin; Specchio, Nicola; Ferrand-Sorbets, Sarah; Bulteau, Christine; Arzimanoglou, Alexis A; Regis, Jean; Cross, J Helen; Tisdall, Martin M; Richardson, Hanna; Cukiert, Arthur; Cukiert, Cristine; Jacobs, Julia; Donner, Elizabeth J; Pearl, Phillip L; Kerrigan, John F; Wilfong, Angus A; Yuen, Kevin C J; Dlugos, Dennis J; Curry, Daniel; Ali, Irfan; Ragheb, John; Soeby, Lisa; Webster, Erica; Gaillard, William D

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Impact of total occlusion of the infarct-related coronary artery on mortality of 2483 patients with acute myocardial infarction

梗死相关冠状动脉完全闭塞对2483例急性心肌梗死患者死亡率的影响

Kos, Nikola; Zeljković, Ivan; Golubic, Karlo; Radeljic, Vjekoslav; Erceg, Marijan; Delic-Brkljacic, Diana; Cigrovski Berkovic, Maja; Bulj, Nikola

Multicentre, adaptive, double-blind, three-arm, placebo-controlled, non-inferiority trial examining antimicrobial prophylaxis duration in cardiac surgery (CALIPSO): trial protocol

一项多中心、适应性、双盲、三组、安慰剂对照、非劣效性试验,旨在研究心脏手术中抗菌药物预防持续时间(CALIPSO):试验方案

Peel, Trisha; McGiffin, David; Smith, Julian; Forbes, Andrew; Marasco, Silvana; Pilcher, David; Stewardson, Andrew J; Petrie, Dennis; Peleg, Anton Y; Wisniewski, Jessica; Forster, Samuel; Druce, Paige; Roney, Janine; Astbury, Sarah; Berkovic, Danielle; Mccracken, Phoebe; Myles, Paul S

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

激活Ras-MAPK通路变体驱动人类癫痫海马克隆竞争

Khoshkhoo, Sattar; Bae, Mingyun; Wang, Yilan; Tillett, Ashton; Ramirez, Rosita B; Finander, Benjamin; Egan, Emily D; Marx, Linus; Patel, Dipan; Zhou, Zinan; Chahine, Yasmine; Chhouk, Brian; Zoullas, Sofia M; Lai, Abbe; Coras, Roland; Bielle, Franck; Navarro, Vincent; Mathon, Bertrand; Valiante, Taufik A; Moradi Chameh, Homeira; Gao, Andrew F; Krings, Timo; Gooley, Samuel; Hildebrand, Michael S; Bulluss, Kristian; Clark, Jonathan; Morokoff, Andrew P; King, James A; Todaro, Marian; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F; Scheffer, Ingrid E; Perucca, Piero; Lapinskas, Emily; Rolston, John D; Cosgrove, G Rees; Sarkis, Rani A; D'Gama, Alissa M; Alexadrescu, Sanda; Yang, Edward; Poduri, Annapurna; Richardson, R Mark; Erson-Omay, E Zeynep; DeLanerolle, Nihal; Spencer, Dennis D; Brown, Katherine S-M; Miller, Michael B; Roberts, Amy E; Santos, Luana N; Kontaridis, Maria I; Bien, Christian G; Blacklow, Stephen C; Kahle, Kristopher T; Blümcke, Ingmar; Huang, August Yue; Lee, Eunjung Alice; Walsh, Christopher A

Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes

患有颞叶癫痫的双胞胎:海马硬化和其他亚型的遗传因素

Dang, Yew Li; Esnault, Kate; Fitt, Gregory; O'Brien, Terence J; Jackson, Graeme D; Perucca, Piero; Berkovic, Samuel F

SUDEP risk is influenced by longevity genomics: a polygenic risk score study

长寿基因组学影响 SUDEP 风险:一项多基因风险评分研究

Martins, Helena; Mills, James D; Pagni, Susanna; Gulcebi, Medine I; Vakrinou, Angeliki; Moloney, Patrick B; Clayton, Lisa M; Bellampalli, Ravishankara; Stamberger, Hannah; Weckhuysen, Sarah; Striano, Pasquale; Zara, Federico; Bagnall, Richard D; Harris, Rebekah V; Lawrence, Kate M; Sadleir, Lynette G; Crompton, Douglas E; Friedman, Daniel; Laze, Juliana; Li, Ling; Berkovic, Samuel F; Semsarian, Christopher; Scheffer, Ingrid E; Devinsky, Orrin; Kuchenbaecker, Karoline; Balestrini, Simona; Sisodiya, Sanjay M

Genome-wide association meta-analyses of drug-resistant epilepsy

全基因组关联荟萃分析在耐药性癫痫中的应用

Leu, Costin; Avbersek, Andreja; Stevelink, Remi; Custodio, Helena Martins; Chen, Siwei; Speed, Doug; Bennett, Caitlin A; Jonsson, Lina; Unnsteinsdóttir, Unnur; Jorgensen, Andrea L; Cavalleri, Gianpiero L; Delanty, Norman; Craig, John J; Depondt, Chantal; Johnson, Michael R; Koeleman, Bobby P C; Hassanin, Emadeldin; Omidvar, Maryam Erfanian; Krause, Roland; Lerche, Holger; Marson, Anthony G; O'Brien, Terence J; Sander, Josemir W; Sills, Graeme J; Striano, Pasquale; Zara, Federico; Stefansson, Hreinn; Stefansson, Kari; May, Patrick; Neale, Benjamin M; Lal, Dennis; Berkovic, Samuel F; Sisodiya, Sanjay M