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

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

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

A single valine to leucine switch disrupts Plasmodium falciparum AP2-G DNA binding and reveals GDV1's role in ap2-g activation

单个缬氨酸到亮氨酸的替换破坏了恶性疟原虫AP2-G与DNA的结合,并揭示了GDV1在ap2-g激活中的作用。

Prajapati, Surendra K; Dong, Jeffrey X; Morahan, Belinda J; Dotrang, Thoai; Barbeau, Michelle C; Williams, April E; Hupalo, Daniel; Wilkerson, Matthew D; Dalgard, Clifton L; Kafsack, Bjorn F C; Llinás, Manuel; Williamson, Kim C

Biological age acceleration associates with Alzheimer's disease plasma biomarker levels

生物年龄加速与阿尔茨海默病血浆生物标志物水平相关

Eissman, Jaclyn M; Ma, Yiyi; Qiao, Min; Reyes-Dumeyer, Dolly; Piriz, Angel; Lee, Annie J; Lantigua, Rafael A; Medrano, Martin; Mejia, Diones Rivera; Honig, Lawrence S; Grodstein, Francine; Bennett, David A; De Jager, Philip L; Dalgard, Clifton L; Mayeux, Richard; Vardarajan, Badri N

Herpesvirus genome integration in whole-genome sequences of dementia and control cohorts

疱疹病毒基因组整合到痴呆症患者和对照组的全基因组序列中

Piotrowski, Stacey L; Allnutt, Mary Alice; Johnson, Kory; Tanaka, Toshiko; Ferrucci, Luigi; Morris, Huw; Hardy, John; Ryten, Mina; Logroscino, Giancarlo; Troncoso, Juan; Beach, Thomas G; Serrano, Geidy E; Cruchaga, Carlos; Dickson, Dennis W; Ross, Owen A; Chiò, Adriano; Houlden, Henry; Dalgard, Clifton L; Ding, Jinhui; Gibbs, J Raphael; Traynor, Bryan J; Scholz, Sonja W; Jacobson, Steven

Association of mitochondrial genetic background with pS65-Ub in Lewy body disease

线粒体遗传背景与路易体病中 pS65-Ub 的关联

Tran, Ngan Le Kim; Hou, Xu; Heckman, Michael G; Fiesel, Fabienne C; Koga, Shunsuke; Watkins, Molly M; Sledge, Hanna J; Gibbs, J Raphael; Traynor, Bryan J; Dalgard, Clifton L; Scholz, Sonja W; Dickson, Dennis W; Springer, Wolfdieter; Ross, Owen A

Confirmation of unidimensionality of the Dermatology Life Quality Index (DLQI) using a multinational 3,408 patient dataset

利用包含3408名患者的多国数据集验证皮肤病生活质量指数(DLQI)的单维性

Johns, Jeffrey; Salek, Sam; Ali, Faraz; Dalgard, Florence; Kupfer, Jörg; Finlay, Andrew Y

Whole Genome Sequencing Informed Patient Personalized Measurable Residual Disease Assays for Acute Myeloid Leukemia

基于全基因组测序的急性髓系白血病患者个性化可测量残留病灶检测

Ravindra, Niveditha; Lack, Justin; Dalgard, Clifton L; vanCollenburg, Eddy; Corner, Adam; Beppu, Lan; Erba, Harry; Othus, Megan; Radich, Jerald P; Dillon, Laura W; Hourigan, Christopher S

Stress in dermatology patients: A multicenter observational study of 8295 outpatients and controls from 22 European clinics

皮肤科患者的压力:一项来自22家欧洲诊所的8295名门诊患者和对照组的多中心观察性研究

Balieva, Flora; Schut, Christina; Szabó, Csanád; Sampogna, Francesca; Dalgard, Florence J; Altunay, Ilknur K; Bewley, Anthony; Ferreira, Bárbara Roque; Finlay, Andrew Y; Gieler, Uwe; Gracia-Cazaña, Tamara; Grivcheva-Panovska, Vesna; Jemec, Gregor B; Legat, Franz J; Lien, Lars; Lvov, Andrey; Marron, Servando E; Misery, Laurent; Reich, Adam; Romanov, Dmitry; Koulil, Saskia Spillekom-van; Ständer, Sonja; Svensson, Ake; Szepietowski, Jacek C; Thompson, Andrew R; Titeca, Geraldine; Tomás-Aragonés, Lucía; Vulink, Nienke; Zeidler, Claudia; Kupfer, Jörg

Human RIG-I Antiviral Deficiency Caused by a Dominant-Negative Variant Locked in a Signaling-Inactive State

人类RIG-I抗病毒缺陷是由一种处于信号传导失活状态的显性负性变异引起的

Solotchi, Mihai; Jing, Huie; Gebauer, Emma; Novick, Scott J; Pascal, Bruce D; Tung, Wesley; Hanpude, Pranita; Madura, Talia; Zhang, Yu; Alba, Camille; Saracino, Annalisa; Laghetti, Paola; Shaw, Elana R; Rosen, Lindsey B; Holland, Steven M; Lisco, Andrea; Dalgard, Clifton L; Marcotrigiano, Joseph; Griffin, Patrick R; Su, Helen C; Patel, Smita S