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

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature

通过临床RNA测序和文献回顾,诊断出两名患有CCDC32相关心脏面神经发育综合征的兄弟姐妹。

Albuainain, Fatimah; Venema, Myrrhe; Schot, Rachel; Huigen, Gideon; Mancini, Grazia M S; van Ham, Tjakko J; Barakat, Tahsin Stefan

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

在患有神经发育障碍表型的个体中发现的UBA7基因变异会破坏ISGylation。

Bandi, Venkateshwarlu; Venema, Myrrhe; Wallace, Iona; Mol, Merel O; Nikoncuk, Anita; Schot, Rachel; van Slegtenhorst, Marjon; Bijlsma, Emilia K; Khan, Amjad; White, Susan M; Rius, Rocio; Delatycki, Martin B; Narayanan, Vinodh; Swatek, Kirby N; Barakat, Tahsin Stefan; Bustos, Francisco

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing

通过临床RNA测序诊断BRCC3相关综合征型烟雾病

Venema, Myrrhe; Albuainain, Fatimah; Schot, Rachel; Roozenbeek, Bob; Sleutels, Frank; van Ham, Tjakko; Barakat, Tahsin Stefan

Fundamental Biological Features of Spaceflight: Advancing the Field to Enable Deep-Space Exploration

太空飞行的基本生物学特征:推进该领域的发展以实现深空探索

Afshinnekoo, Ebrahim; Scott, Ryan T; MacKay, Matthew J; Pariset, Eloise; Cekanaviciute, Egle; Barker, Richard; Gilroy, Simon; Hassane, Duane; Smith, Scott M; Zwart, Sara R; Nelman-Gonzalez, Mayra; Crucian, Brian E; Ponomarev, Sergey A; Orlov, Oleg I; Shiba, Dai; Muratani, Masafumi; Yamamoto, Masayuki; Richards, Stephanie E; Vaishampayan, Parag A; Meydan, Cem; Foox, Jonathan; Myrrhe, Jacqueline; Istasse, Eric; Singh, Nitin; Venkateswaran, Kasthuri; Keune, Jessica A; Ray, Hami E; Basner, Mathias; Miller, Jack; Vitaterna, Martha Hotz; Taylor, Deanne M; Wallace, Douglas; Rubins, Kathleen; Bailey, Susan M; Grabham, Peter; Costes, Sylvain V; Mason, Christopher E; Beheshti, Afshin

Developmental and activity-dependent miRNA expression profiling in primary hippocampal neuron cultures

原代海马神经元培养物中发育和活动依赖性 miRNA 表达谱分析

van Spronsen, Myrrhe; van Battum, Eljo Y; Kuijpers, Marijn; Vangoor, Vamshidhar R; Rietman, M Liset; Pothof, Joris; Gumy, Laura F; van Ijcken, Wilfred F J; Akhmanova, Anna; Pasterkamp, R Jeroen; Hoogenraad, Casper C

Synapse pathology in psychiatric and neurologic disease

精神和神经疾病中的突触病理

van Spronsen, Myrrhe; Hoogenraad, Casper C

Corticosterone alters AMPAR mobility and facilitates bidirectional synaptic plasticity

皮质酮改变AMPA受体的流动性并促进双向突触可塑性

Martin, Stéphane; Henley, Jeremy M; Holman, David; Zhou, Ming; Wiegert, Olof; van Spronsen, Myrrhe; Joëls, Marian; Hoogenraad, Casper C; Krugers, Harmen J