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

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

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

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

罕见的纯合和复合杂合VPS13C错义突变对路易体痴呆和帕金森病的影响

Smolders, Stefanie; Philtjens, Stéphanie; Crosiers, David; Sieben, Anne; Hens, Elisabeth; Heeman, Bavo; Van Mossevelde, Sara; Pals, Philippe; Asselbergh, Bob; Dos Santos Dias, Roberto; Vermeiren, Yannick; Vandenberghe, Rik; Engelborghs, Sebastiaan; De Deyn, Peter Paul; Martin, Jean-Jacques; Cras, Patrick; Annaert, Wim; Van Broeckhoven, Christine

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

分泌型簇蛋白减少是阿尔茨海默病相关CLU突变的一种机制

Bettens, Karolien; Vermeulen, Steven; Van Cauwenberghe, Caroline; Heeman, Bavo; Asselbergh, Bob; Robberecht, Caroline; Engelborghs, Sebastiaan; Vandenbulcke, Mathieu; Vandenberghe, Rik; De Deyn, Peter Paul; Cruts, Marc; Van Broeckhoven, Christine; Sleegers, Kristel

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

在比利时人群中,TBK1基因缺失是额颞叶痴呆的常见病因。

Gijselinck, Ilse; Van Mossevelde, Sara; van der Zee, Julie; Sieben, Anne; Philtjens, Stéphanie; Heeman, Bavo; Engelborghs, Sebastiaan; Vandenbulcke, Mathieu; De Baets, Greet; Bäumer, Veerle; Cuijt, Ivy; Van den Broeck, Marleen; Peeters, Karin; Mattheijssens, Maria; Rousseau, Frederic; Vandenberghe, Rik; De Jonghe, Peter; Cras, Patrick; De Deyn, Peter P; Martin, Jean-Jacques; Cruts, Marc; Van Broeckhoven, Christine