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

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

大规模外显子组分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献

Hop, Paul J; Kooyman, Maarten; Kenna, Brendan J; Zwamborn, Ramona A J; van Eijk, Kristel R; Wang, Yan; van Dijk, Charlotte H; Bekema, Erwin; van Rheenen, Wouter; Beele, Paul; van Vugt, Joke J F A; Khleifat, Ahmad Al; Iacoangeli, Alfredo; Cooper-Knock, Johnathan; Smith, Bradley N; Topp, Simon; van der Kooi, Anneke J; Fominykh, Vera; Drory, Vivian; Lerner, Yossef; Shovman, Yehuda; Rowe, Dominic B; Williams, Kelly L; McLaughlin, Russell L; Hurt, Jessica; Huang, Yunfeng; Chen, Chia-Yen; Tsai, Ellen; Runz, Heiko; Aronica, Eleonora; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Farhan, Sali M K; Garton, Fleur C; McRae, Allan F; McCombe, Pamela A; Henderson, Robert D; Fan, Dongsheng; Šlachtová, Lenka; Høyer, Helle; Nishimura, Agnes L; Cauchi, Ruben J; Brylev, Lev; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Salas, Teresa; Mora Pardina, Jesus S; Gotkine, Marc; Povedano, Monica; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Weber, Markus; Kiernan, Matthew C; Pamphlett, Roger; Blair, Ian P; de Carvalho, Mamede; Başak, Nazli A; Ingre, Caroline; Andersen, Peter M; Zinman, Lorne; Rogaeva, Ekaterina; MacKenzie, Ian R; Dupre, Nicolas; Rouleau, Guy A; Traynor, Bryan J; Ticozzi, Nicola; Chiò, Adriano; Silani, Vincenzo; Hardiman, Orla; Phatnani, Hemali; Harms, Matthew B; Dalgard, Clifton L; Glass, Jonathan D; Landers, John E; Van Damme, Philip; Morrison, Karen E; Shaw, Pamela J; Shaw, Chris E; Al-Chalabi, Ammar; van den Berg, Leonard H; Kenna, Kevin P; Veldink, Jan H

Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy

SEPTIN9相关遗传性神经痛性肌萎缩的临床特征和预后

Theuriet, Julian; Quadrio, Isabelle; Fer, Frédéric; Monin, Pauline; Bohic, Adrien; Gravier-Dumonceau, Alice; Poinsignon, Vianney; Delmont, Emilien; Salort-Campana, Emmanuelle; Attarian, Shahram; Nollet, Sylvain; Petiot, Philippe; Ronsin, Solène; Peysson, Stéphane; Lozeron, Pierre; Bouhour, Françoise; Corcia, Philippe; Pegat, Antoine; Stojkovic, Tanya

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS

双等位基因中间型 ATXN2 重复序列扩增与进展缓慢、腿部起病的家族性 ALS 相关。

Demaegd, Koen Cedric; Koole, Wouter; van Vugt, Joke Jfa; Dankbaar, Jan Willem; Hendrikse, Jeroen; Nazlı Başak, A; de Carvalho, Mamede; Corcia, Philippe; Codron, Philippe; Bernard, Emilien; Guissart, Claire; Couratier, Philippe; Povedano Panades, Mónica; van Doorn, Pieter A; Warrenburg, Bart P; Cooper-Knock, Johnathan; Pasterkamp, R Jeroen; van Rheenen, Wouter; van Damme, Philip; van den Berg, Leonard H; Veldink, Jan Herman; van Es, Michael A

The dispersal of domestic cats from North Africa to Europe around 2000 years ago

大约2000年前,家猫从北非扩散到欧洲。

De Martino, M; De Cupere, B; Rovelli, V; Serventi, P; Mouraud, B; Baldoni, M; Di Corcia, T; Geiger, S; Alhaique, F; Alves, P C; Buitenhuis, H; Ceccaroni, E; Cerilli, E; De Grossi Mazzorin, J; Detry, C; Dowd, M; Fiore, I; Gourichon, L; Grau-Sologestoa, I; Küchelmann, H C; Kunst, G K; McCarthy, M; Miccichè, R; Minniti, C; Moreno, M; Mrđić, N; Onar, V; Oueslati, T; Parrag, M; Pino Uria, B; Romagnoli, G; Rugge, M; Salari, L; Saliari, K; Santos, A B; Schmölcke, U; Sforzi, A; Soranna, G; Spassov, N; Tagliacozzo, A; Tinè, V; Trixl, S; Vuković, S; Wierer, U; Wilkens, B; Doherty, S; Sykes, N; Frantz, L; Mattucci, F; Caniglia, R; Larson, G; Peters, J; Van Neer, W; Ottoni, C

Reldesemtiv in Amyotrophic Lateral Sclerosis: Results From the COURAGE-ALS Randomized Clinical Trial

Reldesemtiv治疗肌萎缩侧索硬化症:COURAGE-ALS随机临床试验结果

Shefner, Jeremy M; Cudkowicz, Merit E; Genge, Angela; Hardiman, Orla; Al-Chalabi, Ammar; Andrews, Jinsy A; Chio, Adriano; Corcia, Philippe; Couratier, Philippe; de Carvalho, Mamede; Heiman-Patterson, Terry; Henderson, Robert D; Ingre, Caroline; Johnston, Wendy; Ludolph, Albert; Maragakis, Nicholas J; Miller, Timothy M; Mora, Jesus S; Petri, Susanne; Simmons, Zachary; van den Berg, Leonard H; Zinman, Lorne; Kupfer, Stuart; Malik, Fady I; Meng, Lisa; Simkins, Tyrell J; Wei, Jenny; Wolff, Andrew A; Rudnicki, Stacy A

Recommendations for cardiac screening and emergency action planning in youth football: a FIFA consensus statement

国际足联关于青少年足球心脏筛查和应急行动计划的建议:一项共识声明

Baggish, Aaron L; Borjesson, Mats; Pieles, Guido E; Schmied, Christian; Colombo, Clea Simone Sabino de Souza; Gonzales Corcia, Cecilia; Drezner, Jonathan A; Grimm, Katharina; Mak, Gary; La Gerche, André; Levine, Benjamin D; Gati, Sabiha; Massey, Andrew; Pambo, Prince; Pelliccia, Antonio; Putukian, Margot; Abdelrahman, Yasser; Sharma, Sanjay; Wilson, Mathew G; Serner, Andreas

Dynamic modelling of the ALSFRS-R: leveraging population-based scores using neural networks

ALSFRS-R 的动态建模:利用神经网络从基于人群的评分中获益

McFarlane, Robert; Ross, Robert; Domhnaill, Éanna Mac; Chiò, Adriano; Corcia, Philippe; Ingre, Caroline; McDermott, Christopher J; Panadés, Mónica Povedano; Shaw, Pamela J; van Damme, Philip; van den Berg, Leonard; Al-Chalabi, Ammar; Walsh, Cathal; Hardiman, Orla

Optimised machine learning for time-to-event prediction in healthcare applied to timing of gastrostomy in ALS: a multi-centre, retrospective model development and validation study

针对医疗保健领域事件发生时间预测的优化机器学习方法在肌萎缩侧索硬化症(ALS)胃造瘘术时机选择中的应用:一项多中心回顾性模型开发与验证研究

Weinreich, Marcel; McDonough, Harry; Heverin, Mark; Domhnaill, Éanna Mac; Yacovzada, Nancy; Magen, Iddo; Cohen, Yahel; Harvey, Calum; Elazzab, Ahmed; Gornall, Sarah; Boddy, Sarah; Alix, James J P; Kurz, Julian M; Kenna, Kevin P; Zhang, Sai; Iacoangeli, Alfredo; Al-Khleifat, Ahmad; Snyder, Michael P; Hobson, Esther; Chio, Adriano; Malaspina, Andrea; Hermann, Andreas; Ingre, Caroline; Costa, Juan Vazquez; van den Berg, Leonard; Panadés, Monica Povedano; van Damme, Philip; Corcia, Phillipe; de Carvalho, Mamede; Al-Chalabi, Ammar; Hornstein, Eran; Elhaik, Eran; Shaw, Pamela J; Hardiman, Orla; McDermott, Christopher; Cooper-Knock, Johnathan

Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications

肌萎缩侧索硬化症的寡基因结构具有基因检测、咨询和治疗意义。

Iacoangeli, Alfredo; Dilliott, Allison A; Al Khleifat, Ahmad; Andersen, Peter M; Başak, Nazlı A; Cooper-Knock, Johnathan; Corcia, Philippe; Couratier, Philippe; deCarvalho, Mamede; Drory, Vivian E; Glass, Jonathan D; Gotkine, Marc; Lerner, Yosef M; Hardiman, Orla; Landers, John E; McLaughlin, Russell L; Pardina, Jesus S Mora; Morrison, Karen; Pinto, Susana; Povedano, Monica; Shaw, Christopher E; Shaw, Pamela J; Silani, Vincenzo; Ticozzi, Nicola; van Damme, Philip; van den Berg, Leonard H; Vourc'h, Patrick; Weber, Markus; Veldink, Jan Herman; Dobson, Richard; Rouleau, Guy A; Al-Chalabi, Ammar; Farhan, Sali M K

The diagnostic role of pharmacological provocation testing in cardiac electrophysiology: a clinical consensus statement of the European Heart Rhythm Association and the European Association of Percutaneous Cardiovascular Interventions (EAPCI) of the ESC, the ESC Working Group on Cardiovascular Pharmacotherapy, the Association of European Paediatric and Congenital Cardiology (AEPC), the Paediatric & Congenital Electrophysiology Society (PACES), the Heart Rhythm Society (HRS), the Asia Pacific He

药物激发试验在心脏电生理诊断中的作用:欧洲心律协会和欧洲经皮心血管介入协会(EAPCI)、欧洲心脏病学会(ESC)心血管药物治疗工作组、欧洲儿科和先天性心脏病协会(AEPC)、儿科和先天性电生理学会(PACES)、心律学会(HRS)以及亚太心律学会的临床共识声明

Behr, Elijah R; Winkel, Bo Gregers; Ensam, Bode; Alfie, Alberto; Arbelo, Elena; Berry, Colin; Cerrone, Marina; Conte, Giulio; Crotti, Lia; Corcia, Cecilia M Gonzalez; Kaski, Juan Carlos; Nademanee, Koonlawee; Postema, Pieter G; Priori, Silvia; Probst, Vincent; Sarquella-Brugada, Georgia; Schulze-Bahr, Eric; Tadros, Rafik; Wilde, Arthur; Tfelt-Hansen, Jacob; Wolpert, Christian; Cuesta, Alejandro; Damman, Peter; Dobrev, Dobromir; Drago, Fabrizio; Haugaa, Kristina; Krahn, Andrew; Krause, Ulrich; Lambiase, Pier D; Napolitano, Carlo; Odening, Katja E; Shimizu, Wataru; Veltmann, Christian