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

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5

持续的 OMA1 介导的综合应激反应对 5 型痉挛性共济失调有益

Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D'Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

神经发育障碍中 GlyR α2 亚基突变的丢失、增加和功能改变

Xiumin Chen, Katie A Wilson, Natascha Schaefer, Lachlan De Hayr, Mark Windsor, Emmanuel Scalais, Germaine van Rijckevorsel, Katrien Stouffs, Carmen Villmann, Megan L O'Mara, Joseph W Lynch, Robert J Harvey

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

NCOR1 和 NCOR2 功能丧失会通过新的 GABAergic 下丘脑-CA3 投射损害记忆

Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying-Wooi Wan, Basil Paul, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O'Driscoll, Jenny E V Morton; DDD study; Xinguo Hou, Qi Wu, Qingchun Tong, Zhandon

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

辅酶 Q 缺乏导致硫化物氧化途径受损

Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing-Huang Gao, Emanuele Barca, Maria J Sanchez-Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina M Quinzii

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency

人类 CARD9 缺乏导致侵袭性真菌感染和中性粒细胞杀伤受损

Agata Drewniak, Roel P Gazendam, Anton T J Tool, Michel van Houdt, Machiel H Jansen, John L van Hamme, Ester M M van Leeuwen, Dirk Roos, Emmanuel Scalais, Carine de Beaufort, Hans Janssen, Timo K van den Berg, Taco W Kuijpers