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

Individualized Atrophy-Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed-Effects Modeling

基于个体萎缩的贝叶斯线性混合效应模型预测家族性额颞叶变性患者的痴呆进展

Dutt, Shubir; Leichter, Dana; Cobigo, Yann; Wolf, Amy; Kornak, John; Clark, Annie; Russell, Lucy L; Bouzigues, Arabella; Cash, David M; Bocchetta, Martina; Olzinski, Molly; Appleby, Brian; Bayram, Ece; Borroni, Barbara; Bozoki, Andrea; Butler, Chris R; Clark, David; Convery, Rhian S; Darby, R Ryan; de Mendonça, Alexandre; Dickerson, Bradford; Domoto-Reilly, Kimiko; Ducharme, Simon; Ferry-Bolder, Eve; Finger, Elizabeth; Foster, Phoebe H; Galasko, Douglas R; Galimberti, Daniela; Gerhard, Alexander; Ghoshal, Nupur; Graff, Caroline; Graff-Radford, Neill; Grant, Ian M; Hales, Chadwick M; Honig, Lawrence S; Hsiung, Ging-Yuek; Huey, Edward D; Irwin, David; Jiskoot, Lize C; Kremers, Walter; Kwan, Justin Y; Laforce, Robert; Le Ber, Isabelle; Léger, Gabriel C; Levin, Johannes; Litvan, Irene; Mackenzie, Ian R; Masellis, Mario; Mendez, Mario F; Moreno, Fermin; Onyike, Chiadi; Otto, Markus; Pascual, Belen; Pressman, Peter; Rademakers, Rosa; Ramos, Eliana Marisa; Ritter, Aaron; Roberson, Erik D; Rowe, James B; Sanchez-Valle, Raquel; Santana, Isabel; Seelaar, Harro; Snyder, Allison; Sorbi, Sandro; Synofzik, Matthis; Tartaglia, Maria Carmela; Tiraboschi, Pietro; van Swieten, John C; Vandebergh, Marijne; Vandenberghe, Rik; Heuer, Hilary W; Miller, Bruce L; Seeley, William W; Gorno-Tempini, Maria Luisa; Kramer, Joel H; Forsberg, Leah; Kantarci, Kejal; Boeve, Bradley F; Boxer, Adam L; Rohrer, Jonathan D; Rosen, Howard J; Staffaroni, Adam M

Spatial transcriptomics reveals the molecular signatures of prodromal and advanced α-synucleinopathy.

空间转录组学揭示了α-突触核蛋白病前驱期和晚期的分子特征。

Lin Lin, Jensen Nanna M, Delaidelli Alberto, Ferreira Sara A, Yarmahmoudi Fatemeh, Sorensen Poul H, Romero-Ramos Marina, Jensen Poul H, Mackenzie Ian R, Nyengaard Jens R, Jan Asad

Distinct TAF15 amyloid filament folds define multiple subtypes of FTLD-TAF15

不同的TAF15淀粉样蛋白丝折叠定义了FTLD-TAF15的多种亚型

Tetter, Stephan; Varghese, Nikhil R; Murzin, Alexey G; De Coster, Wouter; Van den Broeck, Marleen; Roeber, Sigrun; Joseph, Jeffrey T; Newell, Kathy; Castellani, Rudolf; Das, Sumit; Ang, Lee-Cyn; Synofzik, Matthis; Herms, Jochen; Rademakers, Rosa; Ghetti, Bernardino; Lashley, Tammaryn; Mackenzie, Ian R A; Neumann, Manuela; Ryskeldi-Falcon, Benjamin

Comprehensive cross-sectional and longitudinal comparisons of plasma glial fibrillary acidic protein and neurofilament light across FTD spectrum disorders

对额颞叶痴呆谱系障碍患者血浆胶质纤维酸性蛋白和神经丝轻链进行全面的横断面和纵向比较

Sheth, Udit; Öijerstedt, Linn; Heckman, Michael G; White, Launia J; Heuer, Hilary W; Lario Lago, Argentina; Forsberg, Leah K; Faber, Kelley M; Foroud, Tatiana M; Rademakers, Rosa; Ramos, Eliana Marisa; Appleby, Brian S; Bozoki, Andrea C; Darby, R Ryan; Dickerson, Bradford C; Domoto-Reilly, Kimiko; Galasko, Douglas R; Ghoshal, Nupur; Graff-Radford, Neill R; Grant, Ian M; Hales, Chadwick M; Hsiung, Ging-Yuek Robin; Huey, Edward D; Irwin, David; Kwan, Justin Y; Litvan, Irene; Mackenzie, Ian R; Masdeu, Joseph C; Mendez, Mario F; Onyike, Chiadi U; Pascual, Belen; Pressman, Peter S; Roberson, Erik D; Snyder, Allison; Tartaglia, M Carmela; Seeley, William W; Dickson, Dennis W; Rosen, Howard J; Boeve, Bradley F; Boxer, Adam L; Petrucelli, Leonard; Gendron, Tania F

Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health.

TMEM106B 水平升高会导致溶酶体功能障碍,从而影响突触信号传导和神经元健康

Perneel Jolien, Lastra Osua Miranda, Alidadiani Sara, Peeters Nele, De Witte Linus, Heeman Bavo, Manzella Simona, De Rycke Riet, Brooks Mieu, Perkerson Ralph B, Calus Elke, De Coster Wouter, Neumann Manuela, Mackenzie Ian R A, Van Dam Debby, Asselbergh Bob, Ellender Tommas, Zhou Xiaolai, Rademakers Rosa

Psychotropic medication usage in sporadic versus genetic behavioral-variant frontotemporal dementia

散发性与遗传性行为变异型额颞叶痴呆患者使用精神药物的情况

Vargas-Gonzalez, Juan-Camilo; Dimal, Nico; Cortez, Kasey; Heuer, Hilary; Forsberg, Leah K; Appleby, Brian S; Barmada, Sami; Bozoki, Andrea; Clark, David; Cobigo, Yann; Darby, R Ryan; Dickerson, Bradford C; Domoto-Reilly, Kimiko; Galasko, Douglas R; Geschwind, Daniel H; Ghoshal, Nupur; Graff-Radford, Neill R; Grant, Ian M; Irwin, David; Hsiung, Ging-Yuek Robin; Honig, Lawrence S; Kantarci, Kejal; Léger, Gabriel C; Litvan, Irene; Mackenzie, Ian R; Masdeu, Joseph C; Mendez, Mario F; Onyike, Chiadi U; Pascual, Belen; Pressman, Peter; Ramos, Eliana Marisa; Roberson, Erik D; Rogalski, Emily; Boeve, Brad F; Boxer, Adam L; Rosen, Howie J; Tartaglia, Maria Carmela

Decoding amyloid beta clearance systems at inner blood-retina barrier using three-dimensional ex vivo retinal imaging in Alzheimer's disease

利用三维离体视网膜成像技术解码阿尔茨海默病中内血视网膜屏障的β-淀粉样蛋白清除系统

Wijesinghe, Printha; Hosseini, Amir; Campbell, Matthew; Tejpal, Shivani; Haynes, Justin; Xi, Jeanne; Mackenzie, Ian R; Hirsch-Reinshagen, Veronica; Hsiung, Ging-Yuek Robin; Spiller, Benjamin W; Wadzinski, Brian E; Pham, Wellington; Matsubara, Joanne A

Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia

行为变异型额颞叶痴呆临床表型的性别差异

Liu, Xulin; de Boer, Sterre C M; Cortez, Kasey; Poos, Jackie M; Illán-Gala, Ignacio; Heuer, Hilary; Forsberg, Leah K; Casaletto, Kaitlin; Memel, Molly; Appleby, Brian S; Barmada, Sami; Bozoki, Andrea; Clark, David; Cobigo, Yann; Darby, Ryan; Dickerson, Bradford C; Domoto-Reilly, Kimiko; Galasko, Douglas R; Geschwind, Daniel H; Ghoshal, Nupur; Graff-Radford, Neill R; Grant, Ian M; Hsiung, Ging-Yuek Robin; Honig, Lawrence S; Huey, Edward D; Irwin, David; Kantarci, Kejal; Léger, Gabriel C; Litvan, Irene; Mackenzie, Ian R; Masdeu, Joseph C; Mendez, Mario F; Onyike, Chiadi U; Pascual, Belen; Pressman, Peter; Bayram, Ece; Ramos, Eliana Marisa; Roberson, Erik D; Rogalski, Emily; Bouzigues, Arabella; Russell, Lucy L; Foster, Phoebe H; Ferry-Bolder, Eve; Masellis, Mario; van Swieten, John; Jiskoot, Lize; Seelaar, Harro; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonça, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Pasquier, Florence; Ducharme, Simon; Butler, Chris R; Ber, Isabelle Le; Finger, Elizabeth; Rowe, James B; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Boeve, Brad F; Boxer, Adam L; Rosen, Howie J; Pijnenburg, Yolande A L; Rohrer, Jonathan D; Tartaglia, Maria Carmela