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

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

锌指同源框 4 基因 (ZFHX4) 功能丧失是神经发育障碍的根本原因

Pérez Baca María Del Rocío, Palomares-Bralo María, Vanhooydonck Michiel, Hamerlinck Lisa, D'haene Eva, Leimbacher Sebastian, Jacobs Eva Z, De Cock Laurenz, D'haenens Erika, Dheedene Annelies, Malfait Zoë, Vantomme Lies, Silva Ananilia, Rooney Kathleen, Zhao Xiaonan, Saeidian Amir Hossein, Owen Nichole Marie, Santos-Simarro Fernando, Lleuger-Pujol Roser, García-Miñaúr Sixto, Losantos-García Itsaso, Menten Björn, Gestri Gaia, Ragge Nicola, Sadikovic Bekim, Bogaert Elke, Vleminckx Kris, Naert Thomas, Syx Delfien, Callewaert Bert, Vergult Sarah

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

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

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD

由内而外:核质转运在肌萎缩侧索硬化症和额颞叶痴呆症中的作用

Boeynaems, Steven; Bogaert, Elke; Van Damme, Philip; Van Den Bosch, Ludo

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

果蝇筛选将核转运基因与 c9ALS/FTD 中的 DPR 病理联系起来

Boeynaems Steven, Bogaert Elke, Michiels Emiel, Gijselinck Ilse, Sieben Anne, Jovičić Ana, De Baets Greet, Scheveneels Wendy, Steyaert Jolien, Cuijt Ivy, Verstrepen Kevin J, Callaerts Patrick, Rousseau Frederic, Schymkowitz Joost, Cruts Marc, Van Broeckhoven Christine, Van Damme Philip, Gitler Aaron D, Robberecht Wim, Van Den Bosch Ludo

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

GluR2基因的多态性与肌萎缩侧索硬化症无关。

Bogaert, Elke; Goris, An; Van Damme, Philip; Geelen, Veerle; Lemmens, Robin; van Es, Michael A; van den Berg, Leonard H; Sleegers, Kristel; Verpoorten, Nathalie; Timmerman, Vincent; De Jonghe, Peter; Van Broeckhoven, Christine; Traynor, Bryan J; Landers, John E; Brown, Robert H Jr; Glass, Jonathan D; Al-Chalabi, Ammar; Shaw, Christopher E; Birve, Anna; Andersen, Peter M; Slowik, Agnieszka; Tomik, Barbara; Melki, Judith; Robberecht, Wim; Van Den Bosch, Ludo