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

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

CACNA1A 单倍体不足会导致突触功能降低和内在兴奋性增加

Hommersom Marina P, Doorn Nina, Puvogel Sofía, Lewerissa Elly I, Mordelt Annika, Ciptasari Ummi, Kampshoff Franziska, Dillen Lieke, van Beusekom Ellen, Oudakker Astrid, Kogo Naoki, Dolga Amalia M, Frega Monica, Schubert Dirk, van de Warrenburg Bart P C, Nadif Kasri Nael, van Bokhoven Hans

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

靶向 AASS 可减轻神经毒性,并改善吡哆醇依赖性癫痫星形胶质细胞模型中的线粒体功能。

Schuurmans Imke M E, Engelke Udo, Abedrabbo Muna, Puvogel Sofía, Mijdam Rachel, Scholten Gijs-Jan, van Katwijk Sara B, Oudakker Astrid, Al-Shekaili Hilal H, Lefeber Dirk J, Leavitt Blair R, van Karnebeek Clara D M, Nadif Kasri Nael, Garanto Alejandro

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Hypocalcemia associated with adverse outcomes following severe traumatic injury in the Western Cape of South Africa: a secondary analysis of multicenter data from the Epidemiology and Outcomes of Prolonged Trauma Care (EpiC) study

南非西开普省严重创伤后低钙血症与不良预后相关:一项基于长期创伤护理流行病学和结果(EpiC)研究多中心数据的二次分析

Rees, Christiaan A; Wild, Jessica L; Xiao, Mengli; Finck, Lani L; Oudakker, Jessica B; Lategan, Hendrick J; Oosthuizen, George; de Vries, Shaheem; Verster, Janette; Mayet, Mohammed; Hodsdon, Lesley; Doubell, Karlien; Wagner, Leigh; Snyders, L'Oreal; Lourens, Denise; Steyn, Elmin; Dixon, Julia M; Schauer, Steven G; Mould-Millman, Nee-Kofi

A human in vitro neuronal model for studying homeostatic plasticity at the network level

用于研究网络水平稳态可塑性的人类体外神经元模型

Xiuming Yuan, Sofía Puvogel, Jon-Ruben van Rhijn, Ummi Ciptasari, Anna Esteve-Codina, Mandy Meijer, Simon Rouschop, Eline J H van Hugte, Astrid Oudakker, Chantal Schoenmaker, Monica Frega, Dirk Schubert, Barbara Franke, Nael Nadif Kasri

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

在神经发育障碍的人类模型中,自噬失衡会导致突触功能障碍。

Katrin Linda ,Elly I Lewerissa ,Anouk H A Verboven ,Michele Gabriele ,Monica Frega ,Teun M Klein Gunnewiek ,Lynn Devilee ,Edda Ulferts ,Marina Hommersom ,Astrid Oudakker ,Chantal Schoenmaker ,Hans van Bokhoven ,Dirk Schubert ,Giuseppe Testa ,David A Koolen ,Bert B A de Vries ,Nael Nadif Kasri

Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

钙黏蛋白-13是人类干细胞衍生神经元网络中GABA能调节的关键调节因子

Mossink, Britt; van Rhijn, Jon-Ruben; Wang, Shan; Linda, Katrin; Vitale, Maria R; Zöller, Johanna E M; van Hugte, Eline J H; Bak, Jitske; Verboven, Anouk H A; Selten, Martijn; Negwer, Moritz; Latour, Brooke L; van der Werf, Ilse; Keller, Jason M; Klein Gunnewiek, Teun M; Schoenmaker, Chantal; Oudakker, Astrid; Anania, Alessia; Jansen, Sophie; Lesch, Klaus-Peter; Frega, Monica; van Bokhoven, Hans; Schubert, Dirk; Nadif Kasri, Nael

The Effect of CAM Boots on Contact Pressures of the Ankle and Hindfoot Joints

CAM靴对踝关节和后足关节接触压力的影响

Stein, H; Dickson, R A; Bentley, G; Wipf, Caleb; Zhu, Mingjie; Barg, Taylor; Nolte, Charles; Oudakker, Jessica; Orr, Caley M; Li, Shuyuan; Myerson, Mark; Smyth, Niall A; Abbasi, Pooyan; de Cesar Netto, Cesar; Michnick, Stuart M; Casscells, Nicholas; Parks, Brent; Schon, Lew C

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

导致智力障碍和自闭症的不同致病基因表现出常见的神经元网络多动表型

Monica Frega, Martijn Selten, Britt Mossink, Jason M Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif Kasri

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

克利夫斯特拉综合征模型中由NMDAR信号增强介导的神经元网络功能障碍

Monica Frega ,Katrin Linda ,Jason M Keller ,Güvem Gümüş-Akay ,Britt Mossink ,Jon-Ruben van Rhijn ,Moritz Negwer ,Teun Klein Gunnewiek ,Katharina Foreman ,Nine Kompier ,Chantal Schoenmaker ,Willem van den Akker ,Ilse van der Werf ,Astrid Oudakker ,Huiqing Zhou ,Tjitske Kleefstra ,Dirk Schubert ,Hans van Bokhoven ,Nael Nadif Kasri