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

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

距离研发出安格曼综合征的疾病改善疗法又近了一步

Judson, Matthew C; de Almeida, Luis Pereira; Burdine, Rebecca D; Chamberlain, Stormy J; Deverman, Benjamin E; Distel, Ben; Ehlers, Michael D; Jalazo, Elizabeth; Kushner, Steven A; Nespeca, Mark; Sanders, Stephan J; Scheffner, Martin; Yi, Jason J; Zylka, Mark J; Elgersma, Ype; Philpot, Benjamin D

A xenotransplantation model for reactivation of paternal UBE3A using human-specific antisense oligonucleotides

利用人源特异性反义寡核苷酸激活父系UBE3A的异种移植模型

Smeenk, Hilde; Lendemeijer, Bas; Buurma, Mirle G; Forgione, Michell A; Slump, Denise E; Monshouwer, Roos A; Wallaard, Ilse; Mientjes, Edwin J; Hoogendijk, Witte J G; Elgersma, Ype; de Vrij, Femke M S; Kushner, Steven A

Systematic Review and Meta-analysis of the Predictive Performance of Stroke and Bleeding Prediction Models in Atrial Fibrillation Patients With Kidney Disease

系统评价和荟萃分析:肾病合并房颤患者卒中和出血预测模型的预测性能

Langenhuijsen, Liselotte F S; Derksen, Daniëlle C L; Milders, Jet; van der Horst, Sabine F B; van Diepen, Merel; Trines, Serge A; den Exter, Paul L; Klok, Frederikus A; Rotmans, Joris I; de Jong, Ype

Don't HIT me one more time: a case report of catheter-directed thrombolysis in a refractory heparin-induced thrombocytopenia-related acute limb ischemia

别再打我了:一例难治性肝素诱导血小板减少症相关急性肢体缺血的导管溶栓治疗病例报告

Kerstjens, Lieke J; den Exter, Paul L; de Jong, Ype; Blok, Joris J

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation.

UBE3A 通过靶向 ABCA1 进行蛋白酶体降解,促进泡沫细胞形成并抑制髓鞘再生

Loix Melanie, Vanherle Sam, Bolkaerts Laura, Verberk Sanne G S, Punt Mattijs, Wouters Flore, Moonen Brecht, Verhagen Rob, Van Wouw Suzanne A E, Jongejan Aldo, Distel Ben, Elgersma Ype, Haidar Mansour, Zelcer Noam, Hendriks Jerome J A, Bogie Jeroen F J

Flecainide acetate inhalation solution for cardioversion of recent-onset, symptomatic atrial fibrillation: results of the phase 3 RESTORE-1 trial

用于治疗近期发作的症状性房颤的氟卡尼醋酸盐吸入溶液:RESTORE-1 3期试验结果

Rienstra, Michiel; Woite-Silva, Anderson C; Kuijper, Aaf; Eijsbouts, Sabine; Kraaier, Karin; Janota, Tomas; Van Ofwegen, Clara; Tuininga, Ype; Badings, Erik; Merino, Jose Luis; Ruskin, Jeremy N; Camm, A John; Kowey, Peter R; Dufton, Christopher; Maupas, Jean; Parsell, Dawn; Belardinelli, Luiz

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.

UBE3A 的恢复可以恢复 Angelman 综合征小鼠模型(印记缺陷)的行为和蛋白质组

Milazzo Claudia, Narayanan Ramanathan, Badillo Solveig, Wang Silvia, Almand Rosaisela, Monshouwer Roos, Tzouros Manuel, Golling Sabrina, Mientjes Edwin, Chamberlain Stormy, Kremer Thomas, Elgersma Ype

Experimental Models to Investigate PNPLA3 in Liver Steatosis

用于研究PNPLA3在肝脂肪变性中的实验模型

Ramandi, Alireza; Diehl, Anna-Mae; Sanyal, Arun J; de Jong, Ype P

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial

拉莫三嗪治疗1型神经纤维瘤病相关认知障碍:一项II期随机安慰剂对照试验

Ottenhoff, Myrthe J; Mous, Sabine E; Castricum, Jesminne; Rietman, André B; Oostenbrink, Rianne; van der Vaart, Thijs; Tulen, Joke H M; Parra, Alba; Ramos, Federico J; Legius, Eric; Moll, Henriette A; Elgersma, Ype; de Wit, Marie-Claire Y