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

A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease

GRIN2D发育性和癫痫性脑病的鼠模型重现了人类疾病的症状。

Yam, Mor; Nassir, Jolan; Galber, Danielle; Quinn, Shir; Gal, Roni; Ovadia, Mor; Bordeynik-Cohen, Mor; Peled, Eden; Makinson, Christopher D; Hausman-Kedem, Moran; Fattal-Valevski, Aviva; Frankel, Wayne N; Avraham, Karen B; Rubinstein, Moran

Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy

GRIN2D发育和癫痫性脑病小鼠模型中的突触功能紊乱

Teoh, JiaJie; Simko, Jane; Camp, Chad R; Liu, Christine J; Wang, Wanqi; Williams, Damian J; Ma, Liang; Soundararajan, Divyalakshmi; Martin, Caryn; Taylor, Noah K; François, Ekniel; Petri, Sabrina; Kanber, Ayla; Ravichandra, Aishwarya; Pero, Maria Elena; Bartolini, Francesca; Swayne, Theresa C; Lutz, Cathleen M; Zuberi, Aamir; Rubinstein, Moran; Hausman-Kedem, Moran; Yuan, Hongjie; Gelinas, Jennifer N; Sands, Tristan T; Harper, Scott Q; Traynelis, Stephen F; Makinson, Christopher D; Frankel, Wayne N

Rescue of Iqsec2 Knockout Mice with Human IQSEC2 Adeno-Associated Virus Mediated Gene Therapy

利用人IQSEC2腺相关病毒介导的基因疗法拯救Iqsec2敲除小鼠

Soundararajan, Divyalakshmi; Kouyama-Suzuki, Emi; Shirai, Yoshinori; Orth, Shaun; Borisov, Veronika; Israel, Yonat; Weiss, Yisrael; Avi-Isaac, Leah; Garoma, Niguse H; Lache, Orit; Levy, Nina S; Li, Suyao; Zang, Weichen; Netser, Shai; Wagner, Shlomo; Jimenez, Gabriel; Frankel, Wayne N; Tabuchi, Katsuhiko; Sands, Tristan T; Levy, Andrew P

Epilepsy Gene Discovery Needs Another Big Leap Forward

癫痫基因发现需要取得又一次重大突破

Frankel, Wayne N

Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy.

ARHGEF9 发育性和癫痫性脑病模型中轴突起始段结构和功能受损

Wang Wanqi, Williams Damian J, Teoh Jia Jie, Soundararajan Divyalakshmi, Zuberi Aamir, Lutz Cathleen M, Frankel Wayne N, Makinson Christopher D

Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

Kcnt1功能获得性变异体的杂合表达对表达SST和PV的皮质GABA能神经元具有不同的影响

Shore, Amy N; Li, Keyong; Safari, Mona; Qunies, Alshaima'a M; Spitznagel, Brittany D; Weaver, C David; Emmitte, Kyle A; Frankel, Wayne N; Weston, Matthew C

An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice

在 Glut1 缺乏综合征模型小鼠中揭示了内皮细胞对 Glut1 的早期特异性需求。

Tang, Maoxue; Park, Sarah H; Petri, Sabrina; Yu, Hang; Rueda, Carlos B; Abel, E Dale; Kim, Carla Y; Hillman, Elizabeth Mc; Li, Fanghua; Lee, Yeojin; Ding, Lei; Jagadish, Smitha; Frankel, Wayne N; De Vivo, Darryl C; Monani, Umrao R

Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy

发育性和癫痫性脑病小鼠模型的重叠、差距和复杂性

Wang, Wanqi; Frankel, Wayne N

Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression

癫痫基准领域二:预防癫痫及其进展

Binder, Devin K; Boison, Detlev; Eid, Tore; Frankel, Wayne N; Mingorance, Ana; Smith, Bret N; Dacks, Penny A; Whittemore, Vicky; Poduri, Annapurna

PRAS: Predicting functional targets of RNA binding proteins based on CLIP-seq peaks

PRAS:基于CLIP-seq峰预测RNA结合蛋白的功能靶点

Lin, Jianan; Zhang, Yuping; Frankel, Wayne N; Ouyang, Zhengqing