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

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

作者更正:SOD1介导的ALS表型显示症状出现年龄与病程持续时间之间存在脱钩现象。

Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P; Al-Khleifat, Ahmad; Williams, Kelly L; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H; Landers, John E; Glass, Jonathan D; Mora, Jesus S; Robberecht, Wim; Damme, Philip Van; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P; Fan, Dong-Sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A; Siddique, Teepu; Miller, Timothy; Brown, Robert H; Al-Chalabi, Ammar; Shaw, Christopher E

Identity-by-descent analysis of CMTX3 links three families through a common founder

CMTX3基因的同源性分析表明,三个家族通过共同的始祖基因联系在一起。

Henden, Lyndal; Grosz, Bianca R; Ellis, Melina; Nicholson, Garth A; Kennerson, Marina; Williams, Kelly L

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

作者更正:肌萎缩侧索硬化症常见和罕见变异关联分析鉴定出15个风险位点,这些位点具有不同的遗传结构和神经元特异性生物学特征。

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

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

SOD1介导的ALS表型表现出症状出现年龄与疾病持续时间之间的脱钩现象。

Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P; Al-Khleifat, Ahmad; Williams, Kelly L; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H; Landers, John E; Glass, Jonathan D; Mora, Jesus S; Robberecht, Wim; Damme, Philip Van; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P; Fan, Dong-Sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A; Siddique, Teepu; Miller, Timothy; Brown, Robert H; Al-Chalabi, Ammar; Shaw, Christopher E

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

SPTLC1基因变异与青少年肌萎缩侧索硬化症的关联

Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H Jr; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D; Scotter, Emma L; Kenna, Kevin P; Keagle, Pamela; Tiloca, Cinzia; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; King, Andrew; Pensato, Viviana; Castellotti, Barbara; Baas, Frank; Ten Asbroek, Anneloor L M A; McKenna-Yasek, Diane; McLaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Stevic, Zorica; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Rademakers, Rosa; van Blitterswijk, Marka; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Glass, Jonathan D; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H Jr; Silani, Vincenzo; Shaw, Christopher E; Landers, John E; Dalgard, Clifton L; Adeleye, Adelani; Soltis, Anthony R; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N; Sukumar, Gauthaman; Pollard, Harvey B; Wilkerson, Matthew D; Martinez, Elisa McGrath; Abramzon, Yevgeniya; Ahmed, Sarah; Arepalli, Sampath; Baloh, Robert H; Bowser, Robert; Brady, Christopher B; Brice, Alexis; Broach, James; Campbell, Roy H; Camu, William; Chia, Ruth; Cooper-Knock, John; Ding, Jinhui; Drepper, Carsten; Drory, Vivian E; Dunckley, Travis L; Eicher, John D; England, Bryce K; Faghri, Faraz; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Geiger, Joshua T; Gerhard, Glenn; Gibbs, J Raphael; Gibson, Summer B; Glass, Jonathan D; Hardy, John; Harms, Matthew B; Heiman-Patterson, Terry D; Hernandez, Dena G; Jansson, Lilja; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landeck, Natalie; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; MacGowan, Daniel J L; Maragakis, Nicholas J; Mora, Gabriele; Mouzat, Kevin; Murphy, Natalie A; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Ostrow, Lyle W; Pamphlett, Roger; Pickering-Brown, Stuart; Pioro, Erik P; Pletnikova, Olga; Pliner, Hannah A; Pulst, Stefan M; Ravits, John M; Renton, Alan E; Rivera, Alberto; Robberecht, Wim; Rogaeva, Ekaterina; Rollinson, Sara; Rothstein, Jeffrey D; Scholz, Sonja W; Sendtner, Michael; Shaw, Pamela J; Sidle, Katie C; Simmons, Zachary; Singleton, Andrew B; Smith, Nathan; Stone, David J; Tienari, Pentti J; Troncoso, Juan C; Valori, Miko; Van Damme, Philip; Van Deerlin, Vivianna M; Van Den Bosch, Ludo; Zinman, Lorne; Landers, John E; Chiò, Adriano; Traynor, Bryan J; Angelocola, Stefania M; Ausiello, Francesco P; Barberis, Marco; Bartolomei, Ilaria; Battistini, Stefania; Bersano, Enrica; Bisogni, Giulia; Borghero, Giuseppe; Brunetti, Maura; Cabona, Corrado; Calvo, Andrea; Canale, Fabrizio; Canosa, Antonio; Cantisani, Teresa A; Capasso, Margherita; Caponnetto, Claudia; Cardinali, Patrizio; Carrera, Paola; Casale, Federico; Chiò, Adriano; Colletti, Tiziana; Conforti, Francesca L; Conte, Amelia; Conti, Elisa; Corbo, Massimo; Cuccu, Stefania; Dalla Bella, Eleonora; D'Errico, Eustachio; DeMarco, Giovanni; Dubbioso, Raffaele; Ferrarese, Carlo; Ferraro, Pilar M; Filippi, Massimo; Fini, Nicola; Floris, Gianluca; Fuda, Giuseppe; Gallone, Salvatore; Gianferrari, Giulia; Giannini, Fabio; Grassano, Maurizio; Greco, Lucia; Iazzolino, Barbara; Introna, Alessandro; La Bella, Vincenzo; Lattante, Serena; Lauria, Giuseppe; Liguori, Rocco; Logroscino, Giancarlo; Logullo, Francesco O; Lunetta, Christian; Mandich, Paola; Mandrioli, Jessica; Manera, Umberto; Manganelli, Fiore; Marangi, Giuseppe; Marinou, Kalliopi; Marrosu, Maria Giovanna; Martinelli, Ilaria; Messina, Sonia; Moglia, Cristina; Mora, Gabriele; Mosca, Lorena; Murru, Maria R; Origone, Paola; Passaniti, Carla; Petrelli, Cristina; Petrucci, Antonio; Pozzi, Susanna; Pugliatti, Maura; Quattrini, Angelo; Ricci, Claudia; Riolo, Giulia; Riva, Nilo; Russo, Massimo; Sabatelli, Mario; Salamone, Paolina; Salivetto, Marco; Salvi, Fabrizio; Santarelli, Marialuisa; Sbaiz, Luca; Sideri, Riccardo; Simone, Isabella; Simonini, Cecilia; Spataro, Rossella; Tanel, Raffaella; Tedeschi, Gioacchino; Ticca, Anna; Torriello, Antonella; Tranquilli, Stefania; Tremolizzo, Lucio; Trojsi, Francesca; Vasta, Rosario; Vacchiano, Veria; Vita, Giuseppe; Volanti, Paolo; Zollino, Marcella; Zucchi, Elisabetta

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1

重新审视导致 CMTX1 的 GJB1 5' UTR c.-103C > T 突变的致病机制

Grosz, Bianca R; Svaren, John; Perez-Siles, Gonzalo; Nicholson, Garth A; Kennerson, Marina L

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

RFC1基因扩增可模拟伴有咳嗽的遗传性感觉神经病和干燥综合征。

Kumar, Kishore R; Cortese, Andrea; Tomlinson, Susan E; Efthymiou, Stephanie; Ellis, Melina; Zhu, Danqing; Stoll, Marion; Dominik, Natalia; Tisch, Stephen; Tchan, Michel; Wu, Kathy H C; Devery, Sophie; Spring, Penelope J; Hawke, Simon; Cremer, Phillip; Ng, Karl; Reilly, Mary M; Nicholson, Garth A; Houlden, Henry; Kennerson, Marina

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

全基因组荟萃分析发现ACSL5-ZDHHC6基因座与肌萎缩侧索硬化症(ALS)相关,并将体重减轻与该疾病的遗传因素联系起来。

Iacoangeli, Alfredo; Lin, Tian; Al Khleifat, Ahmad; Jones, Ashley R; Opie-Martin, Sarah; Coleman, Jonathan R I; Shatunov, Aleksey; Sproviero, William; Williams, Kelly L; Garton, Fleur; Restuadi, Restuadi; Henders, Anjali K; Mather, Karen A; Needham, Merilee; Mathers, Susan; Nicholson, Garth A; Rowe, Dominic B; Henderson, Robert; McCombe, Pamela A; Pamphlett, Roger; Blair, Ian P; Schultz, David; Sachdev, Perminder S; Newhouse, Stephen J; Proitsi, Petroula; Fogh, Isabella; Ngo, Shyuan T; Dobson, Richard J B; Wray, Naomi R; Steyn, Frederik J; Al-Chalabi, Ammar

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

同源性分析可识别创始人事件,并将SOD1家族性和散发性ALS病例联系起来。

Henden, Lyndal; Twine, Natalie A; Szul, Piotr; McCann, Emily P; Nicholson, Garth A; Rowe, Dominic B; Kiernan, Matthew C; Bauer, Denis C; Blair, Ian P; Williams, Kelly L