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

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

由C9orf72基因六核苷酸重复序列扩增引起的肌萎缩侧索硬化症:从遗传学到治疗学

Mizielinska, Sarah; Hautbergue, Guillaume M; Gendron, Tania F; van Blitterswijk, Marka; Hardiman, Orla; Ravits, John; Isaacs, Adrian M; Rademakers, Rosa

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

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

通过全基因组测序解析FTLD-TDP病理亚型的不同遗传风险因素

Pottier, Cyril; Küçükali, Fahri; Baker, Matt; Batzler, Anthony; Jenkins, Gregory D; van Blitterswijk, Marka; Vicente, Cristina T; De Coster, Wouter; Wynants, Sarah; Van de Walle, Pieter; Ross, Owen A; Murray, Melissa E; Faura, Júlia; Haggarty, Stephen J; van Rooij, Jeroen Gj; Mol, Merel O; Hsiung, Ging-Yuek R; Graff, Caroline; Öijerstedt, Linn; Neumann, Manuela; Asmann, Yan; McDonnell, Shannon K; Baheti, Saurabh; Josephs, Keith A; Whitwell, Jennifer L; Bieniek, Kevin F; Forsberg, Leah; Heuer, Hilary; Lago, Argentina Lario; Geier, Ethan G; Yokoyama, Jennifer S; Oddi, Alexis P; Flanagan, Margaret; Mao, Qinwen; Hodges, John R; Kwok, John B; Domoto-Reilly, Kimiko; Synofzik, Matthis; Wilke, Carlo; Onyike, Chiadi; Dickerson, Bradford C; Evers, Bret M; Dugger, Brittany N; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Suh, EunRan; Gefen, Tamar; Geula, Changiz; Weintraub, Sandra; Diehl-Schmid, Janine; Farlow, Martin R; Edbauer, Dieter; Woodruff, Bryan K; Caselli, Richard J; Donker Kaat, Laura L; Huey, Edward D; Reiman, Eric M; Mead, Simon; King, Andrew; Roeber, Sigrun; Nana, Alissa L; Ertekin-Taner, Nilufer; Knopman, David S; Petersen, Ronald C; Petrucelli, Leonard; Uitti, Ryan J; Wszolek, Zbigniew K; Ramos, Eliana Marisa; Grinberg, Lea T; Tempini, Maria Luisa Gorno; Rosen, Howard J; Spina, Salvatore; Piguet, Olivier; Grossman, Murray; Trojanowski, John Q; Keene, C Dirk; Jin, Lee-Way; Prudlo, Johannes; Geschwind, Daniel H; Rissman, Robert A; Cruchaga, Carlos; Ghetti, Bernardino; Halliday, Glenda M; Beach, Thomas G; Serrano, Geidy E; Arzberger, Thomas; Herms, Jochen; Boxer, Adam L; Honig, Lawrence S; Vonsattel, Jean P; Lopez, Oscar L; Kofler, Julia; White, Charles L 3rd; Gearing, Marla; Glass, Jonathan; Rohrer, Jonathan D; Irwin, David J; Lee, Edward B; Van Deerlin, Vivianna; Castellani, Rudolph; Mesulam, Marsel M; Tartaglia, Maria C; Finger, Elizabeth C; Troakes, Claire; Al-Sarraj, Safa; Dalgard, Clifton L; Miller, Bruce L; Seelaar, Harro; Graff-Radford, Neill R; Boeve, Bradley F; Mackenzie, Ian Ra; van Swieten, John C; Seeley, William W; Sleegers, Kristel; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases

多种运动神经元疾病中超罕见基因变异的共同负担

Wu, Gang; Chen, Wenan; Wuu, Joanne; Jain, Angita; Myers, Jason; Cordts, Isabell; Rampersaud, Evadnie; Heckmann, Jeannine M; Nel, Melissa; Granit, Volkan; Statland, Jeffrey; Swenson, Andrea; Ravits, John; McMillan, Corey T; Elman, Lauren; Caress, James; Burns, Ted M; Pioro, Erik P; Trivedi, Jaya; Katz, Jonathan; Jackson, Carlayne; Maiser, Samuel; Walk, David; So, Yuen; McCauley, Jacob L; Baker, Matthew C; Taylor, J Paul; Zuchner, Stephan; Rademakers, Rosa; van Blitterswijk, Marka; Benatar, Michael

Morphometric-Assisted Prediction of Developmental Toxicity Using Stem Cell-Based Embryo Models in Microwells

利用微孔板中干细胞胚胎模型进行形态计量学辅助的发育毒性预测

Shankar, Vinidhra; Pappa, Athanasia Zoi; van Blitterswijk, Clemens; Vrij, Erik; Giselbrecht, Stefan

Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study

以非典型帕金森综合征为表现的上运动神经元疾病:一项临床病理学研究

Murakami, Aya; Koga, Shunsuke; Fujioka, Shinsuke; White, Adrianna E; Bieniek, Kevin F; Sekiya, Hiroaki; DeJesus-Hernandez, Mariely; Finch, NiCole A; van Blitterswijk, Marka; Nakamura, Masataka; Tsuboi, Yoshio; Murray, Melissa E; Wszolek, Zbigniew K; Dickson, Dennis W

Advance Provision of Mifepristone and Misoprostol via Online Telemedicine in the US

美国通过在线远程医疗提前提供米非司酮和米索前列醇

Aiken, Abigail R A; Starling, Jennifer E; van Blitterswijk, Daniëlle C; Looijen, Carlijn; van Vliet, Thijs; Essink, Dirk R; Gomperts, Rebecca

Microfluidically Aligned Collagen to Maintain the Phenotype of Tenocytes In Vitro

微流体排列胶原蛋白在体外维持肌腱细胞的表型

Francesca Giacomini, David Baião Barata, Hoon Suk Rho, Zeinab Tahmasebi Birgani, Clemens van Blitterswijk, Stefan Giselbrecht, Roman Truckenmüller, Pamela Habibović

Enthesitis on Chip - A Model for Studying Acute and Chronic Inflammation of the Enthesis and its Pharmacological Treatment.

芯片上的附着点炎——研究附着点急性及慢性炎症及其药物治疗的模型

Giacomini Francesca, Rho Hoon Suk, Eischen-Loges Maria, Tahmasebi Birgani Zeinab, van Blitterswijk Clemens, van Griensven Martijn, Giselbrecht Stefan, Habibović Pamela, Truckenmüller Roman