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

Continuous generation of cross-linked polymer nanoparticles employing an ultrasonic microreactor

利用超声微反应器连续生成交联聚合物纳米粒子

Udepurkar, Aniket Pradip; Dermaut, Wim; Clasen, Christian; Kuhn, Simon

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

TDP-43 C 端移码变异体具有显著的聚集倾向,可导致边缘空泡肌病,但不会导致肌萎缩侧索硬化症/额颞叶痴呆。

Ervilha Pereira, Pedro; Schuermans, Nika; Meylemans, Antoon; LeBlanc, Pontus; Versluys, Lauren; Copley, Katie E; Rubien, Jack D; Altheimer, Christopher; Peetermans, Myra; Debackere, Elke; Vanakker, Olivier; Janssens, Sandra; Baets, Jonathan; Verhoeven, Kristof; Lammens, Martin; Symoens, Sofie; De Paepe, Boel; Barmada, Sami J; Shorter, James; De Bleecker, Jan L; Bogaert, Elke; Dermaut, Bart

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SRSF1单倍体不足是导致一种与智力障碍相关的综合征性发育障碍的原因。

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

对1411例成人起病神经系统疾病患者进行外显子组测序和多基因panel检测

Schuermans, Nika; Verdin, Hannah; Ghijsels, Jody; Hellemans, Madeleine; Debackere, Elke; Bogaert, Elke; Symoens, Sofie; Naesens, Leslie; Lecomte, Elien; Crosiers, David; Bergmans, Bruno; Verhoeven, Kristof; Poppe, Bruce; Laureys, Guy; Herdewyn, Sarah; Van Langenhove, Tim; Santens, Patrick; De Bleecker, Jan L; Hemelsoet, Dimitri; Dermaut, Bart

The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

阿尔茨海默病易感基因BIN1通过早期内体缺陷诱导亚型依赖性神经毒性。

Erwan Lambert # ,Orthis Saha # ,Bruna Soares Landeira ,Ana Raquel Melo de Farias ,Xavier Hermant ,Arnaud Carrier ,Alexandre Pelletier ,Johanna Gadaut ,Lindsay Davoine ,Cloé Dupont ,Philippe Amouyel ,Amélie Bonnefond ,Frank Lafont ,Farida Abdelfettah ,Patrik Verstreken ,Julien Chapuis ,Nicolas Barois ,Fabien Delahaye ,Bart Dermaut ,Jean-Charles Lambert ,Marcos R Costa # ,Pierre Dourlen #

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

缩短诊断过程:成人未确诊罕见病多学科项目 (UD-PrOZA)

Schuermans, Nika; Hemelsoet, Dimitri; Terryn, Wim; Steyaert, Sanne; Van Coster, Rudy; Coucke, Paul J; Steyaert, Wouter; Callewaert, Bert; Bogaert, Elke; Verloo, Patrick; Vanlander, Arnaud V; Debackere, Elke; Ghijsels, Jody; LeBlanc, Pontus; Verdin, Hannah; Naesens, Leslie; Haerynck, Filomeen; Callens, Steven; Dermaut, Bart; Poppe, Bruce

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions

从神经元到肌肉:TDP-43蛋白病通路的生理和病理生理功能

Versluys, Lauren; Ervilha Pereira, Pedro; Schuermans, Nika; De Paepe, Boel; De Bleecker, Jan L; Bogaert, Elke; Dermaut, Bart

Proteome Profiling of RNF213 Depleted Cells Reveals Nitric Oxide Regulator DDAH1 Antilisterial Activity

RNF213 耗竭细胞的蛋白质组分析揭示了一氧化氮调节剂 DDAH1 抗李斯特菌活性

Lia Martina, Caroline Asselman, Fabien Thery, Katie Boucher, Louis Delhaye, Teresa M Maia, Bart Dermaut, Sven Eyckerman, Francis Impens

Blood Proteomics-Based Detection of Upregulated Lipid Metabolism and Immune Dysfunction in an Elite Adventure Athlete Trekking Across Antarctica

基于血液蛋白质组学的检测发现,一名精英探险运动员在穿越南极洲的徒步旅行中脂质代谢上调和免疫功能障碍。

Asselman, Caroline; Meersschaut, Jozefien; Willems, Patrick; Mortier, Julien; Vernaillen, Frank; Dhondt, Elisabeth; Sieben, Anne; Libbrecht, Sasha; Fernandez, Esperánza; Gevaert, Kris; De Spiegelaere, Ward; Van Hamme, Evelien; De Herdt, Veerle; Van Dorpe, Jo; Hemelsoet, Dimitri; Dermaut, Bart; Impens, Francis; Hajos, Mihaly; Shajari, E; Gagné, D; Thibault, M; Tremblay, É; Gryspan, D; Ferretti, E; Bertelle, V; Beaulieu, J; Nieman, David; Groen, Arnoud; Pugachev, Artyom; Simonson, Andrew; Polley, Kristine; James, Karma; El-Khodor, Bassem; Varadharaj, Saradhadevi; Hernández-Armenta, Claudia

Prof. Karl Schügerl, 22.6.1927–20.10.2018

卡尔·舒格尔教授,1927年6月22日–2018年10月20日

Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham, John M Jr; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M