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

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

疾病突变的结构域定位揭示了阿尔茨海默病中的致病性SORL1变异

Andersen, Olav M; de Waal, Matthijs W J; Monti, Giulia; Tesi, Niccolo; Jensen, Anne Mette G; de Geus, Christa; van Spaendonk, Rosalina; Vogel, Maartje; Ahmad, Shahzad; Amin, Najaf; Amouyel, Philippe; Beecham, Gary W; Bellenguez, Céline; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Charbonnier, Camille; Clarimon, Jordi; Cruchaga, Carlos; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Dols-Icardo, Oriol; van Duijn, Cornelia M; Farrer, Lindsay A; Fernández, Maria Victoria; van der Flier, Wiesje M; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Grenier-Boley, Benjamin; Grozeva, Detelina; Guen, Yann Le; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Hummerich, Holger; Arfan Ikram, M; Kamran Ikram, M; Kawalia, Amit; Kraaij, Robert; Lambert, Jean-Charles; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Myers, Richard M; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Nicholas Cochran, J; Nicolas, Gaël; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Pijnenburg, Yolande A L; Piras, Fabrizio; Quenez, Olivier; Ramirez, Alfredo; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; van Rooij, Jeroen G J; Rousseau, Stéphane; Ryan, Natalie S; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seshadri, Sudha; Sie, Daoud; Sims, Rebecca; Sistermans, Erik A; Sorbi, Sandro; van Swieten, John C; Tijms, Betty; Uitterlinden, André G; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Williams, Julie; Yokoyama, Jennifer S; Zarea, Aline; van der Lee, Sven J; Olsen, Johan G; Hulsman, Marc; Holstege, Henne

Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.

对具有 TDP-43 病理的 FTLD 患者进行甲基化组分析,可识别出病理亚型特有的表观遗传特征

Vicente Cristina T, Niranjan Tejasvi, Coopman Elise, Faura Júlia, Alidadiani Sara, Schrauwen Claudia, Matchett Billie J, Heeman Bavo, Van den Broeck Marleen, De Coster Wouter, Nguyen Thuy, Lau Julie S, Baheti Saurabh, de Pooter Tim, De Rijk Peter, Strazisar Mojca, Baker Matt, DeJesus-Hernandez Mariely, Finch NiCole A, Pottier Cyril, van Blitterswijk Marka, Asmann Yan, Murray Melissa E, Petrucelli Leonard, King Andrew, Troakes Claire, Al-Sarraj Safa, Rissman Robert A, Hiniker Annie, Flanagan Margaret, Evers Bret M, White Charles L 3rd, Cruchaga Carlos, Castellani Rudolph, van Rooij Jeroen G J, Mol Merel O, Seelaar Harro, van Swieten John C, Oskarsson Björn, Reichard Robert Ross, Nguyen Aivi T, Josephs Keith A, Petersen Ronald C, Ertekin-Taner Nilüfer, Boeve Bradley F, Graff-Radford Neill R, Weckhuysen Sarah, Dickson Dennis W, Rademakers Rosa

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia

UNC13A多态性影响额颞叶痴呆患者的生存期

Reus, Lianne M; Willemse, Sean W; de Boer, Sterre C M; De Houwer, Julie; Hartog, Willem L; Mol, Merel O; van Rooij, Jeroen G J; Tesi, Niccolo; Donker Kaat, Laura; Hulsman, Marc; Vijverberg, Everard G B; Holstege, Henne; van Rheenen, Wouter; Veldink, Jan H; van den Berg, Leonard H; van Swieten, John C; Seelaar, H; van der Lee, Sven J; van Es, Michael A; Pijnenburg, Yolande A L

Low-Threshold-For-Surgery Versus Primarily-Conservative Treatment for Odontoid Fractures in the Elderly: Evaluating Practice Variation in The Netherlands

荷兰老年人齿状突骨折手术低阈值治疗与以保守治疗为主的治疗方案比较

Huybregts, Jeroen G J; Polak, Samuel B; Jacobs, Wilco C H; Krekels-Huijbregts, Ilse A; Smeets, Anouk Y J M; Arts, Mark P; Slooff, Willem-Bart M; Öner, F Cumhur; Peul, Wilco C; van Santbrink, Henk; Vleggeert-Lankamp, Carmen L A

Meta-Analysis of Transcriptomic Studies of Blood and Six Brain Regions Identifies a Consensus of 15 Cross-Tissue Mechanisms in Alzheimer's Disease and Suggests an Origin of Cross-Study Heterogeneity

对血液和六个脑区转录组学研究的荟萃分析,揭示了阿尔茨海默病中15种跨组织机制的共识,并提出了研究间异质性的起源。

Jiahui Hou ,Jonathan L Hess ,Chunling Zhang ,Jeroen G J van Rooij ,Gentry C Hearn ,Chun Chieh Fan ,Stephen V Faraone ,Christine Fennema-Notestine ,Shu-Ju Lin ,Valentina Escott-Price ,Sudha Seshadri ,Ming T Tsuang ,William S Kremen ,Chris Gaiteri ,Stephen J Glatt

Surgical versus conservative treatment for odontoid fractures in older people: an international prospective comparative study

老年人齿状突骨折的手术治疗与保守治疗:一项国际前瞻性比较研究

Huybregts, Jeroen G J; Polak, Samuel B; Jacobs, Wilco C; Arts, Mark P; Meyer, Bernhard; Wostrack, Maria; Butenschön, Vicki M; Osti, Michael; Öner, F Cumhur; Slooff, Willem-Bart M; Feller, Ricardo E; Bouma, Gert-Joan; Harhangi, Biswadjiet S; Depreitere, Bart; Nygaard, Øystein P; Weber, Clemens; Müller, Kay; Timothy, Jake; Pellisé, Ferran; Rasmussen, Mikkel M; van Zwet, Erik W; Steyerberg, Ewout W; Peul, Wilco C; Vleggeert-Lankamp, Carmen L A

Distinctive cell-free DNA methylation characterizes presymptomatic genetic frontotemporal dementia

独特的游离DNA甲基化是无症状遗传性额颞叶痴呆的特征。

Lucia A A Giannini,Ruben G Boers,Emma L van der Ende,Jackie M Poos,Lize C Jiskoot,Joachim B Boers,Wilfred F J van IJcken,Elise G Dopper,Yolande A L Pijnenburg,Harro Seelaar,Lieke H Meeter,Jeroen G J van Rooij,Wiep Scheper,Joost Gribnau,John C van Swieten

Lifestyle Intervention Randomized Controlled Trial for Age-Related Macular Degeneration (AMD-Life): Study Design

针对年龄相关性黄斑变性的生活方式干预随机对照试验(AMD-Life):研究设计

de Koning-Backus, Alexandra P M; Kiefte-de Jong, Jessica C; van Rooij, Jeroen G J; Amd-Life Team; Uitterlinden, André G; Voortman, Trudy G; Meester-Smoor, Magda A; Klaver, Caroline C W

Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores

利用多基因风险评分进行髋关节和膝关节骨关节炎风险评估

Sedaghati-Khayat, Bahar; Boer, Cindy G; Runhaar, Jos; Bierma-Zeinstra, Sita M A; Broer, Linda; Ikram, M Arfan; Zeggini, Eleftheria; Uitterlinden, André G; van Rooij, Jeroen G J; van Meurs, Joyce B J