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

Charles Weissmann (1931–2025), an outstanding and captivating molecular biologist

查尔斯·魏斯曼(1931–2025),一位杰出而富有魅力的分子生物学家

van Rheenen, Wouter; van der Spek, Rick A A; Bakker, Mark K; van Vugt, Joke J F A; Hop, Paul J; Zwamborn, Ramona A J; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H P; van Eijk, Kristel R; Kooyman, Maarten; Byrne, Ross P; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Sendtner, Michael; Meyer, Thomas; Başak, Nazli; van der Kooi, Anneke J; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Sorarù, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stéphanie; Meininger, Vincent; Salachas, François; Mora Pardina, Jesus S; Assialioui, Abdelilah; Rojas-García, Ricardo; Dion, Patrick A; Ross, Jay P; Ludolph, Albert C; Weishaupt, Jochen H; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A M; Saker-Delye, Safa; Wood, Nicholas W; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C; Olsen, Catherine M; Uitterlinden, Andre G; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M; Amouyel, Philippe; Traynor, Bryan J; Singleton, Andrew B; Mitne Neto, Miguel; Cauchi, Ruben J; Ophoff, Roel A; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Jörk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W; Steinbach, Robert; Hübner, Christian A; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Ravnik-Glavač, Metka; Glavač, Damjan; Stević, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P; Kiernan, Matthew C; Benyamin, Beben; Henderson, Robert D; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A; Needham, Merrilee; Ngo, Shyuan T; Nicholson, Garth A; Pamphlett, Roger; Rowe, Dominic B; Steyn, Frederik J; Williams, Kelly L; Mather, Karen A; Sachdev, Perminder S; Henders, Anjali K; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A; Silani, Vincenzo; Curtis, Charles J; Breen, Gerome; Glass, Jonathan D; Brown, Robert H Jr; Landers, John E; Shaw, Christopher E; Andersen, Peter M; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Fan, Dongsheng; Garton, Fleur C; McRae, Allan F; Davey Smith, George; Gaunt, Tom R; Eberle, Michael A; Mill, Jonathan; McLaughlin, Russell L; Hardiman, Orla; Kenna, Kevin P; Wray, Naomi R; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H; Veldink, Jan H; Borst, Piet; Flavell, Richard A

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

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

National guidelines for diagnosis, treatment, and management of myasthenia gravis in Israel

以色列重症肌无力诊断、治疗和管理国家指南

Shelly, Shahar; Gotkine, Marc; Wilf Yarkoni, Adi; Lotan, Itay; Abraham, Alon; Dori, Amir; Wolfe, Gil I; Regev, Keren; Vaknin, Adi; Ben-Hur, Tamir

Military Service Roles and ALS Among Veterans: A Matched Case-Control Study

退伍军人的服役经历与肌萎缩侧索硬化症:一项匹配病例对照研究

Honig, Asaf; Dayan, Roy; Knaani, Amir; Levine, Hagai; Gotkine, Marc

Akt Activation With IPL344 Treatment for Amyotrophic Lateral Sclerosis: First in Human, Open-Label Study

IPL344治疗肌萎缩侧索硬化症激活Akt:首个人体开放标签研究

Gotkine, Marc; Schoenfeld, David A; Cohen, Ilana; Shefner, Jeremy M; Lerner, Yossef; Cohen, Irun R; Klein, Colin; Ovadia, Eran; Cudkowicz, Merit E

Missing in action: the genetic mysteries of extremely low HDL cholesterol

失踪的杀手:极低高密度脂蛋白胆固醇的遗传之谜

Sphitzen, Shoshi; Golomb, Mordechai; Mowaswes, Mohammad; Bitzur, Refael; Horowitz Cederboim, Smadar; Leker, Ronen R; Gotkine, Marc; Chovers, Itai; Schurr, Daniel; Leitersdorf, Eran; Durst, Ronen

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis

SMCHD1缺失介导的DNMT3B剪接失调导致DUX4过表达和FSHD发病机制。

Eden Engal ,Aveksha Sharma ,Uria Aviel ,Nadeen Taqatqa ,Sarah Juster ,Shiri Jaffe-Herman ,Mercedes Bentata ,Ophir Geminder ,Adi Gershon ,Reyut Lewis ,Gillian Kay ,Merav Hecht ,Silvina Epsztejn-Litman ,Marc Gotkine ,Vincent Mouly ,Rachel Eiges ,Maayan Salton ,Yotam Drier

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

常染色体隐性遗传VWA1相关疾病:表型变异和基因突变的综合分析

Nagy, Sara; Pagnamenta, Alistair T; Cali, Elisa; Braakman, Hilde M H; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D; Rossor, Alexander M; Uhrova Meszarosova, Anna; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M; Lamont, Phillipa J; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M; Kvalsund, Michelle; Kapapa, Musambo M; Wa Somwe, Somwe; Bearden, David R; Çakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M; Houlden, Henry; Maroofian, Reza

Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

神经丝重链基因尾部和杆状结构域的突变会增加肌萎缩侧索硬化症(ALS)的风险。

Marriott, Heather; Spargo, Thomas P; Al Khleifat, Ahmad; Andersen, Peter M; Başak, Nazli A; Cooper-Knock, Johnathan; Corcia, Philippe; Couratier, Philippe; de Carvalho, Mamede; Drory, Vivian; Gotkine, Marc; Landers, John E; McLaughlin, Russell; Pardina, Jesús S Mora; Morrison, Karen E; Pinto, Susana; 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 H; Dobson, Richard J; Schwab, Patrick; Al-Chalabi, Ammar; Iacoangeli, Alfredo