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: 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

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

全基因组DNA甲基化研究显示,ALS患者的代谢、炎症和胆固醇通路均发生改变。

Hop, Paul J; Zwamborn, Ramona A J; Hannon, Eilis; Shireby, Gemma L; Nabais, Marta F; Walker, Emma M; van Rheenen, Wouter; van Vugt, Joke J F A; Dekker, Annelot M; Westeneng, Henk-Jan; Tazelaar, Gijs H P; van Eijk, Kristel R; Moisse, Matthieu; Baird, Denis; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Ticozzi, Nicola; Ratti, Antonia; Cooper-Knock, Jonathan; Morrison, Karen E; Shaw, Pamela J; Basak, A Nazli; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Grassano, Maurizio; Gotkine, Marc; Lerner, Yossef; Zabari, Michal; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Mora Pardina, Jesus S; Salas, Teresa; Dion, Patrick; Ross, Jay P; Henderson, Robert D; Mathers, Susan; McCombe, Pamela A; Needham, Merrilee; Nicholson, Garth; Rowe, Dominic B; Pamphlett, Roger; Mather, Karen A; Sachdev, Perminder S; Furlong, Sarah; Garton, Fleur C; Henders, Anjali K; Lin, Tian; Ngo, Shyuan T; Steyn, Frederik J; Wallace, Leanne; Williams, Kelly L; Neto, Miguel Mitne; Cauchi, Ruben J; Blair, Ian P; Kiernan, Matthew C; Drory, Vivian; Povedano, Monica; de Carvalho, Mamede; Pinto, Susana; Weber, Markus; Rouleau, Guy A; Silani, Vincenzo; Landers, John E; Shaw, Christopher E; Andersen, Peter M; McRae, Allan F; van Es, Michael A; Pasterkamp, R Jeroen; Wray, Naomi R; McLaughlin, Russell L; Hardiman, Orla; Kenna, Kevin P; Tsai, Ellen; Runz, Heiko; Al-Chalabi, Ammar; van den Berg, Leonard H; Van Damme, Philip; Mill, Jonathan; Veldink, Jan H

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.

ATXN1 重复扩增会增加患肌萎缩侧索硬化症的风险,并导致 TDP-43 错误定位

Tazelaar Gijs H P, Boeynaems Steven, De Decker Mathias, van Vugt Joke J F A, Kool Lindy, Goedee H Stephan, McLaughlin Russell L, Sproviero William, Iacoangeli Alfredo, Moisse Matthieu, Jacquemyn Maarten, Daelemans Dirk, Dekker Annelot M, van der Spek Rick A, Westeneng Henk-Jan, Kenna Kevin P, Assialioui Abdelilah, Da Silva Nica, Povedano Mónica, Pardina Jesus S Mora, Hardiman Orla, Salachas François, Millecamps Stéphanie, Vourc'h Patrick, Corcia Philippe, Couratier Philippe, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Pasterkamp R Jeroen, Landers John E, Van Den Bosch Ludo, Robberecht Wim, Al-Chalabi Ammar, van den Berg Leonard H, Van Damme Philip, Veldink Jan H, van Es Michael A

Associations of autozygosity with a broad range of human phenotypes

纯合性与多种人类表型的关联

Clark, David W; Okada, Yukinori; Moore, Kristjan H S; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L K; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M; Baumbach, Clemens; Biino, Ginevra; Bixley, Matthew J; Brumat, Marco; Chai, Jin-Fang; Corre, Tanguy; Cousminer, Diana L; Dekker, Annelot M; Eccles, David A; van Eijk, Kristel R; Fuchsberger, Christian; Gao, He; Germain, Marine; Gordon, Scott D; de Haan, Hugoline G; Harris, Sarah E; Hofer, Edith; Huerta-Chagoya, Alicia; Igartua, Catherine; Jansen, Iris E; Jia, Yucheng; Kacprowski, Tim; Karlsson, Torgny; Kleber, Marcus E; Li, Shengchao Alfred; Li-Gao, Ruifang; Mahajan, Anubha; Matsuda, Koichi; Meidtner, Karina; Meng, Weihua; Montasser, May E; van der Most, Peter J; Munz, Matthias; Nutile, Teresa; Palviainen, Teemu; Prasad, Gauri; Prasad, Rashmi B; Priyanka, Tallapragada Divya Sri; Rizzi, Federica; Salvi, Erika; Sapkota, Bishwa R; Shriner, Daniel; Skotte, Line; Smart, Melissa C; Smith, Albert Vernon; van der Spek, Ashley; Spracklen, Cassandra N; Strawbridge, Rona J; Tajuddin, Salman M; Trompet, Stella; Turman, Constance; Verweij, Niek; Viberti, Clara; Wang, Lihua; Warren, Helen R; Wootton, Robyn E; Yanek, Lisa R; Yao, Jie; Yousri, Noha A; Zhao, Wei; Adeyemo, Adebowale A; Afaq, Saima; Aguilar-Salinas, Carlos Alberto; Akiyama, Masato; Albert, Matthew L; Allison, Matthew A; Alver, Maris; Aung, Tin; Azizi, Fereidoun; Bentley, Amy R; Boeing, Heiner; Boerwinkle, Eric; Borja, Judith B; de Borst, Gert J; Bottinger, Erwin P; Broer, Linda; Campbell, Harry; Chanock, Stephen; Chee, Miao-Li; Chen, Guanjie; Chen, Yii-Der I; Chen, Zhengming; Chiu, Yen-Feng; Cocca, Massimiliano; Collins, Francis S; Concas, Maria Pina; Corley, Janie; Cugliari, Giovanni; van Dam, Rob M; Damulina, Anna; Daneshpour, Maryam S; Day, Felix R; Delgado, Graciela E; Dhana, Klodian; Doney, Alexander S F; Dörr, Marcus; Doumatey, Ayo P; Dzimiri, Nduna; Ebenesersdóttir, S Sunna; Elliott, Joshua; Elliott, Paul; Ewert, Ralf; Felix, Janine F; Fischer, Krista; Freedman, Barry I; Girotto, Giorgia; Goel, Anuj; Gögele, Martin; Goodarzi, Mark O; Graff, Mariaelisa; Granot-Hershkovitz, Einat; Grodstein, Francine; Guarrera, Simonetta; Gudbjartsson, Daniel F; Guity, Kamran; Gunnarsson, Bjarni; Guo, Yu; Hagenaars, Saskia P; Haiman, Christopher A; Halevy, Avner; Harris, Tamara B; Hedayati, Mehdi; van Heel, David A; Hirata, Makoto; Höfer, Imo; Hsiung, Chao Agnes; Huang, Jinyan; Hung, Yi-Jen; Ikram, M Arfan; Jagadeesan, Anuradha; Jousilahti, Pekka; Kamatani, Yoichiro; Kanai, Masahiro; Kerrison, Nicola D; Kessler, Thorsten; Khaw, Kay-Tee; Khor, Chiea Chuen; de Kleijn, Dominique P V; Koh, Woon-Puay; Kolcic, Ivana; Kraft, Peter; Krämer, Bernhard K; Kutalik, Zoltán; Kuusisto, Johanna; Langenberg, Claudia; Launer, Lenore J; Lawlor, Deborah A; Lee, I-Te; Lee, Wen-Jane; Lerch, Markus M; Li, Liming; Liu, Jianjun; Loh, Marie; London, Stephanie J; Loomis, Stephanie; Lu, Yingchang; Luan, Jian'an; Mägi, Reedik; Manichaikul, Ani W; Manunta, Paolo; Másson, Gísli; Matoba, Nana; Mei, Xue W; Meisinger, Christa; Meitinger, Thomas; Mezzavilla, Massimo; Milani, Lili; Millwood, Iona Y; Momozawa, Yukihide; Moore, Amy; Morange, Pierre-Emmanuel; Moreno-Macías, Hortensia; Mori, Trevor A; Morrison, Alanna C; Muka, Taulant; Murakami, Yoshinori; Murray, Alison D; de Mutsert, Renée; Mychaleckyj, Josyf C; Nalls, Mike A; Nauck, Matthias; Neville, Matt J; Nolte, Ilja M; Ong, Ken K; Orozco, Lorena; Padmanabhan, Sandosh; Pálsson, Gunnar; Pankow, James S; Pattaro, Cristian; Pattie, Alison; Polasek, Ozren; Poulter, Neil; Pramstaller, Peter P; Quintana-Murci, Lluis; Räikkönen, Katri; Ralhan, Sarju; Rao, Dabeeru C; van Rheenen, Wouter; Rich, Stephen S; Ridker, Paul M; Rietveld, Cornelius A; Robino, Antonietta; van Rooij, Frank J A; Ruggiero, Daniela; Saba, Yasaman; Sabanayagam, Charumathi; Sabater-Lleal, Maria; Sala, Cinzia Felicita; Salomaa, Veikko; Sandow, Kevin; Schmidt, Helena; Scott, Laura J; Scott, William R; Sedaghati-Khayat, Bahareh; Sennblad, Bengt; van Setten, Jessica; Sever, Peter J; Sheu, Wayne H-H; Shi, Yuan; Shrestha, Smeeta; Shukla, Sharvari Rahul; Sigurdsson, Jon K; Sikka, Timo Tonis; Singh, Jai Rup; Smith, Blair H; Stančáková, Alena; Stanton, Alice; Starr, John M; Stefansdottir, Lilja; Straker, Leon; Sulem, Patrick; Sveinbjornsson, Gardar; Swertz, Morris A; Taylor, Adele M; Taylor, Kent D; Terzikhan, Natalie; Tham, Yih-Chung; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tillander, Annika; Tracy, Russell P; Tusié-Luna, Teresa; Tzoulaki, Ioanna; Vaccargiu, Simona; Vangipurapu, Jagadish; Veldink, Jan H; Vitart, Veronique; Völker, Uwe; Vuoksimaa, Eero; Wakil, Salma M; Waldenberger, Melanie; Wander, Gurpreet S; Wang, Ya Xing; Wareham, Nicholas J; Wild, Sarah; Yajnik, Chittaranjan S; Yuan, Jian-Min; Zeng, Lingyao; Zhang, Liang; Zhou, Jie; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Becker, Diane M; Lehne, Benjamin; Bennett, David A; van den Berg, Leonard H; Berndt, Sonja I; Bharadwaj, Dwaipayan; Bielak, Lawrence F; Bochud, Murielle; Boehnke, Mike; Bouchard, Claude; Bradfield, Jonathan P; Brody, Jennifer A; Campbell, Archie; Carmi, Shai; Caulfield, Mark J; Cesarini, David; Chambers, John C; Chandak, Giriraj Ratan; Cheng, Ching-Yu; Ciullo, Marina; Cornelis, Marilyn; Cusi, Daniele; Smith, George Davey; Deary, Ian J; Dorajoo, Rajkumar; van Duijn, Cornelia M; Ellinghaus, David; Erdmann, Jeanette; Eriksson, Johan G; Evangelou, Evangelos; Evans, Michele K; Faul, Jessica D; Feenstra, Bjarke; Feitosa, Mary; Foisy, Sylvain; Franke, Andre; Friedlander, Yechiel; Gasparini, Paolo; Gieger, Christian; Gonzalez, Clicerio; Goyette, Philippe; Grant, Struan F A; Griffiths, Lyn R; Groop, Leif; Gudnason, Vilmundur; Gyllensten, Ulf; Hakonarson, Hakon; Hamsten, Anders; van der Harst, Pim; Heng, Chew-Kiat; Hicks, Andrew A; Hochner, Hagit; Huikuri, Heikki; Hunt, Steven C; Jaddoe, Vincent W V; De Jager, Philip L; Johannesson, Magnus; Johansson, Åsa; Jonas, Jost B; Jukema, J Wouter; Junttila, Juhani; Kaprio, Jaakko; Kardia, Sharon L R; Karpe, Fredrik; Kumari, Meena; Laakso, Markku; van der Laan, Sander W; Lahti, Jari; Laudes, Matthias; Lea, Rodney A; Lieb, Wolfgang; Lumley, Thomas; Martin, Nicholas G; März, Winfried; Matullo, Giuseppe; McCarthy, Mark I; Medland, Sarah E; Merriman, Tony R; Metspalu, Andres; Meyer, Brian F; Mohlke, Karen L; Montgomery, Grant W; Mook-Kanamori, Dennis; Munroe, Patricia B; North, Kari E; Nyholt, Dale R; O'connell, Jeffery R; Ober, Carole; Oldehinkel, Albertine J; Palmas, Walter; Palmer, Colin; Pasterkamp, Gerard G; Patin, Etienne; Pennell, Craig E; Perusse, Louis; Peyser, Patricia A; Pirastu, Mario; Polderman, Tinca J C; Porteous, David J; Posthuma, Danielle; Psaty, Bruce M; Rioux, John D; Rivadeneira, Fernando; Rotimi, Charles; Rotter, Jerome I; Rudan, Igor; Den Ruijter, Hester M; Sanghera, Dharambir K; Sattar, Naveed; Schmidt, Reinhold; Schulze, Matthias B; Schunkert, Heribert; Scott, Robert A; Shuldiner, Alan R; Sim, Xueling; Small, Neil; Smith, Jennifer A; Sotoodehnia, Nona; Tai, E-Shyong; Teumer, Alexander; Timpson, Nicholas J; Toniolo, Daniela; Tregouet, David-Alexandre; Tuomi, Tiinamaija; Vollenweider, Peter; Wang, Carol A; Weir, David R; Whitfield, John B; Wijmenga, Cisca; Wong, Tien-Yin; Wright, John; Yang, Jingyun; Yu, Lei; Zemel, Babette S; Zonderman, Alan B; Perola, Markus; Magnusson, Patrik K E; Uitterlinden, André G; Kooner, Jaspal S; Chasman, Daniel I; Loos, Ruth J F; Franceschini, Nora; Franke, Lude; Haley, Chris S; Hayward, Caroline; Walters, Robin G; Perry, John R B; Esko, Tōnu; Helgason, Agnar; Stefansson, Kari; Joshi, Peter K; Kubo, Michiaki; Wilson, James F

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

肌萎缩侧索硬化症罕见和低频变异的外显子组芯片分析

Dekker, Annelot M; Diekstra, Frank P; Pulit, Sara L; Tazelaar, Gijs H P; van der Spek, Rick A; van Rheenen, Wouter; van Eijk, Kristel R; Calvo, Andrea; Brunetti, Maura; Damme, Philip Van; Robberecht, Wim; Hardiman, Orla; McLaughlin, Russell; Chiò, Adriano; Sendtner, Michael; Ludolph, Albert C; Weishaupt, Jochen H; Pardina, Jesus S Mora; van den Berg, Leonard H; Veldink, Jan H

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

一项大型国际队列研究发现,NIPA1重复序列扩增与肌萎缩侧索硬化症相关

Tazelaar, Gijs H P; Dekker, Annelot M; van Vugt, Joke J F A; van der Spek, Rick A; Westeneng, Henk-Jan; Kool, Lindy J B G; Kenna, Kevin P; van Rheenen, Wouter; Pulit, Sara L; McLaughlin, Russell L; Sproviero, William; Iacoangeli, Alfredo; Hübers, Annemarie; Brenner, David; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Panadés, Monica Povedano; Mora Pardina, Jesus S; Glass, Jonathan D; Hardiman, Orla; Al-Chalabi, Ammar; van Damme, Philip; Robberecht, Wim; Landers, John E; Ludolph, Albert C; Weishaupt, Jochen H; van den Berg, Leonard H; Veldink, Jan H; van Es, Michael A

The role of de novo mutations in the development of amyotrophic lateral sclerosis

新发突变在肌萎缩侧索硬化症发展中的作用

van Doormaal, Perry T C; Ticozzi, Nicola; Weishaupt, Jochen H; Kenna, Kevin; Diekstra, Frank P; Verde, Federico; Andersen, Peter M; Dekker, Annelot M; Tiloca, Cinzia; Marroquin, Nicolai; Overste, Daniel J; Pensato, Viviana; Nürnberg, Peter; Pulit, Sara L; Schellevis, Raymond D; Calini, Daniela; Altmüller, Janine; Francioli, Laurent C; Muller, Bernard; Castellotti, Barbara; Motameny, Susanne; Ratti, Antonia; Wolf, Joachim; Gellera, Cinzia; Ludolph, Albert C; van den Berg, Leonard H; Kubisch, Christian; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Volk, Alexander E

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

NEK1 变异会使人易患肌萎缩侧索硬化症

Kenna, Kevin P; van Doormaal, Perry T C; Dekker, Annelot M; Ticozzi, Nicola; Kenna, Brendan J; Diekstra, Frank P; van Rheenen, Wouter; van Eijk, Kristel R; Jones, Ashley R; Keagle, Pamela; Shatunov, Aleksey; Sproviero, William; Smith, Bradley N; van Es, Michael A; Topp, Simon D; Kenna, Aoife; Miller, Jack W; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russell L; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, Jacqueline; Baas, Frank; van der Kooi, Anneke J; de Visser, Marianne; Ten Asbroek, Anneloor L M A; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Muñoz-Blanco, José Luis; Strom, Tim M; Meitinger, Thomas; Morrison, Karen E; Lauria, Giuseppe; Williams, Kelly L; Leigh, P Nigel; Nicholson, Garth A; Blair, Ian P; Leblond, Claire S; Dion, Patrick A; Rouleau, Guy A; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Esteban-Pérez, Jesús; García-Redondo, Alberto; Van Damme, Phillip; Robberecht, Wim; Chio, Adriano; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michael; Ratti, Antonia; Glass, Jonathan D; Mora, Jesús S; Basak, Nazli A; Hardiman, Orla; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Brown, Robert H Jr; Al-Chalabi, Ammar; Silani, Vincenzo; Shaw, Christopher E; van den Berg, Leonard H; Veldink, Jan H; Landers, John E

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

全基因组关联分析识别出肌萎缩侧索硬化症的新风险变异和遗传结构

van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M; McLaughlin, Russell L; Diekstra, Frank P; Pulit, Sara L; van der Spek, Rick A A; Võsa, Urmo; de Jong, Simone; Robinson, Matthew R; Yang, Jian; Fogh, Isabella; van Doormaal, Perry Tc; Tazelaar, Gijs H P; Koppers, Max; Blokhuis, Anna M; Sproviero, William; Jones, Ashley R; Kenna, Kevin P; van Eijk, Kristel R; Harschnitz, Oliver; Schellevis, Raymond D; Brands, William J; Medic, Jelena; Menelaou, Androniki; Vajda, Alice; Ticozzi, Nicola; Lin, Kuang; Rogelj, Boris; Vrabec, Katarina; Ravnik-Glavač, Metka; Koritnik, Blaž; Zidar, Janez; Leonardis, Lea; Grošelj, Leja Dolenc; Millecamps, Stéphanie; Salachas, François; Meininger, Vincent; de Carvalho, Mamede; Pinto, Susana; Mora, Jesus S; Rojas-García, Ricardo; Polak, Meraida; Chandran, Siddharthan; Colville, Shuna; Swingler, Robert; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Pittman, Alan; Sidle, Katie; Fratta, Pietro; Malaspina, Andrea; Topp, Simon; Petri, Susanne; Abdulla, Susanne; Drepper, Carsten; Sendtner, Michael; Meyer, Thomas; Ophoff, Roel A; Staats, Kim A; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; Van Deerlin, Vivianna M; Trojanowski, John Q; Elman, Lauren; McCluskey, Leo; Basak, A Nazli; Tunca, Ceren; Hamzeiy, Hamid; Parman, Yesim; Meitinger, Thomas; Lichtner, Peter; Radivojkov-Blagojevic, Milena; Andres, Christian R; Maurel, Cindy; Bensimon, Gilbert; Landwehrmeyer, Bernhard; Brice, Alexis; Payan, Christine A M; Saker-Delye, Safaa; Dürr, Alexandra; Wood, Nicholas W; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Uitterlinden, Andre G; Rivadeneira, Fernando; Estrada, Karol; Hofman, Albert; Curtis, Charles; Blauw, Hylke M; van der Kooi, Anneke J; de Visser, Marianne; Goris, An; Weber, Markus; Shaw, Christopher E; Smith, Bradley N; Pansarasa, Orietta; Cereda, Cristina; Del Bo, Roberto; Comi, Giacomo P; D'Alfonso, Sandra; Bertolin, Cinzia; Sorarù, Gianni; Mazzini, Letizia; Pensato, Viviana; Gellera, Cinzia; Tiloca, Cinzia; Ratti, Antonia; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Arcuti, Simona; Capozzo, Rosa; Zecca, Chiara; Lunetta, Christian; Penco, Silvana; Riva, Nilo; Padovani, Alessandro; Filosto, Massimiliano; Muller, Bernard; Stuit, Robbert Jan; Blair, Ian; Zhang, Katharine; McCann, Emily P; Fifita, Jennifer A; Nicholson, Garth A; Rowe, Dominic B; Pamphlett, Roger; Kiernan, Matthew C; Grosskreutz, Julian; Witte, Otto W; Ringer, Thomas; Prell, Tino; Stubendorff, Beatrice; Kurth, Ingo; Hübner, Christian A; Leigh, P Nigel; Casale, Federico; Chio, Adriano; Beghi, Ettore; Pupillo, Elisabetta; Tortelli, Rosanna; Logroscino, Giancarlo; Powell, John; Ludolph, Albert C; Weishaupt, Jochen H; Robberecht, Wim; Van Damme, Philip; Franke, Lude; Pers, Tune H; Brown, Robert H; Glass, Jonathan D; Landers, John E; Hardiman, Orla; Andersen, Peter M; Corcia, Philippe; Vourc'h, Patrick; Silani, Vincenzo; Wray, Naomi R; Visscher, Peter M; de Bakker, Paul I W; van Es, Michael A; Pasterkamp, R Jeroen; Lewis, Cathryn M; Breen, Gerome; Al-Chalabi, Ammar; van den Berg, Leonard H; Veldink, Jan H