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

Beyond the spike: Functional (dissociative) seizures as a key to holistic attitudes in seizure disorders

超越峰值:功能性(分离性)癫痫发作是癫痫疾病整体治疗的关键

Yogarajah, Mahinda; Dworetzky, Barbara; Sander, Josemir W; Aledo-Serrano, Angel

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

Phages and quorum sensing: findings to consider in phage therapy

噬菌体和群体感应:噬菌体疗法中需要考虑的发现

Fernández-Garcia, Laura; Blasco, Lucia; Bleriot, Inés; Arman, Lucía; Ibarguren-Quiles, Clara; Barrio-Pujante, Antonio; de Aledo, Manuel González; García-Contreras, Rodolfo; Cantón, Rafael; Wood, Thomas K; Tomas, María

Phylogenetic reconciliation provides new insights into the evolutionary diversification of the glutamine synthetase gene family in seed plants

系统发育分析为种子植物谷氨酰胺合成酶基因家族的进化多样化提供了新的见解。

Aledo, Elena; Cañas, Rafael Antonio; Cantón, Francisco R; Aledo, Juan Carlos

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

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

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study

拓展高纯度大麻二酚在单基因癫痫治疗中的作用:一项多中心真实世界研究

Cerulli Irelli, Emanuele; Mazzeo, Adolfo; Caraballo, Roberto H; Perulli, Marco; Moloney, Patrick B; Peña-Ceballos, Javier; Rubino, Marica; Mieszczanek, Katarzyna M; Santangelo, Andrea; Licchetta, Laura; De Giorgis, Valentina; Reyes Valenzuela, Gabriela; Casellato, Susanna; Cesaroni, Elisabetta; Operto, Francesca F; Domínguez-Carral, Jana; Ramírez-Camacho, Alia; Ferretti, Alessandro; Santangelo, Giuseppe; Aledo-Serrano, Angel; Rüegger, Andrea; Mancardi, Maria M; Prato, Giulia; Riva, Antonella; Bergonzini, Luca; Cordelli, Duccio M; Bonanni, Paolo; Bisulli, Francesca; Di Gennaro, Giancarlo; Matricardi, Sara; Striano, Pasquale; Delanty, Norman; Marini, Carla; Battaglia, Domenica; Di Bonaventura, Carlo; Ramantani, Georgia; Gardella, Elena; Orsini, Alessandro; Coppola, Antonietta

Gut microbiota and postoperative complications in colorectal surgery and its potential association with intestinal permeability and NLRP6 inflammasome

肠道菌群与结直肠手术后并发症及其与肠道通透性和NLRP6炎症小体的潜在关联

Buitrago-Ruiz, Manuel; Arias-Sánchez, Celia; Asensio-López, Maria Magdalena; Martínez-García, Juan José; Soria-Aledo, Victoriano; Valero-Navarro, Graciela; Cuevas, Santiago

Expert-Agreed Practical Recommendations on the Use of Fenfluramine in Developmental and Epileptic Encephalopathies Based on Clinical Experience and Literature Review

基于临床经验和文献综述的专家共识:芬氟拉明在发育性和癫痫性脑病中的应用实践建议

Villanueva, Vicente; Soto-Insuga, Victor; Smeyers, Patricia; Aledo-Serrano, Ángel; Sánchez-Carpintero, Rocío; García-Peñas, Juan; Gil-Nagel, Antonio

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

含缬氨酸蛋白多系统蛋白病的肌肉活检结果

Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G; Thal, Dietmar Rudolf; Bevilacqua, Jorge A; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A; Kushlaf, Hani; Lloyd, Thomas E; Ikenaga, Chiseko; Alfano, Lindsay N; Quinn, Colin C; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi