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

Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy

局灶性 DEPDC5 缺失而不影响大脑皮层神经元迁移,可重现 DEPDC5 相关性局灶性癫痫。

Karenna J Groff ,Yini Liang ,Christopher Morici ,Jinita B Modasia ,Leena Mehendale ,Nishtha Gupta ,Angelica D'Amore ,Yongho Choe ,Mustafa Q Hameed ,Alexander Rotenberg ,Mustafa Sahin ,Christopher J Yuskaitis

Central Dysmyelination in SSADH-Deficient Humans and Mice

SSADH 缺陷型人类和小鼠的中枢髓鞘发育不良

Itay Tokatly Latzer ,Henry H C Lee ,Edward Yang ,Cesar Alves ,Mariarita Bertoldi ,Caitlyn Fung ,Spencer V Steele ,Eren Kule ,Zijie Jin ,Alexander Rotenberg ,Jean-Baptiste Roullet ,Phillip L Pearl

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

SSADH 缺乏症(一种 GABA 代谢神经递质紊乱)的神经心理学特征

Itay Tokatly Latzer ,Ellen Hanson ,Mariarita Bertoldi ,Melissa L DiBacco ,Deniz Aygun ,Onur Afacan ,Àngeles García-Cazorla ,Natalia Juliá-Palacios ,Thomas Opladen ,Oya Kuseyri Hübschmann ,Kathrin Jeltsch ,Petra Aden ,Mari Oppebøen ,Alexander Rotenberg ,Melissa Tsuboyama ,Jean-Baptiste Roullet ,Phillip L Pearl

Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability

人类癫痫相关基因候选斑马鱼模型提供了过度兴奋的证据

Christopher Mark LaCoursiere, Jeremy F P Ullmann, Hyun Yong Koh, Laura Turner, Cristina M Baker, Barbara Robens, Wanqing Shao, Alexander Rotenberg, Christopher M McGraw, Annapurna H Poduri

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

SSADH 缺乏症(一种典型的代谢性神经发育障碍)5 年自然史研究的临床和分子结果

Itay Tokatly Latzer ,Jean-Baptiste Roullet ,Wardiya Afshar-Saber ,Henry H C Lee ,Mariarita Bertoldi ,Gabrielle E McGinty ,Melissa L DiBacco ,Erland Arning ,Melissa Tsuboyama ,Alexander Rotenberg ,Thomas Opladen ,Kathrin Jeltsch ,Àngels García-Cazorla ,Natalia Juliá-Palacios ,K Michael Gibson ,Mustafa Sahin ,Phillip L Pearl

Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺乏症患者的淋巴系统功能障碍与 GABA 水平降低和睡眠障碍同时发生。

Itay Tokatly Latzer ,Edward Yang ,Onur Afacan ,Erland Arning ,Alexander Rotenberg ,Henry H C Lee ,Jean-Baptiste Roullet ,Phillip L Pearl

Synaptic BMAL1 phosphorylation controls circadian hippocampal plasticity

突触 BMAL1 磷酸化控制昼夜节律海马可塑性

Ilaria Barone, Nicole M Gilette, Hannah Hawks-Mayer, Jonathan Handy, Kevin J Zhang, Fortunate F Chifamba, Engie Mostafa, Erin M Johnson-Venkatesh, Yan Sun, Jennifer M Gibson, Alexander Rotenberg, Hisashi Umemori, Peter T Tsai, Jonathan O Lipton

Direct Visualization of the Charge Transfer in a Graphene/α-RuCl(3) Heterostructure via Angle-Resolved Photoemission Spectroscopy

利用角分辨光电子能谱直接可视化石墨烯/α-RuCl(3)异质结构中的电荷转移

Rossi, Antonio; Johnson, Cameron; Balgley, Jesse; Thomas, John C; Francaviglia, Luca; Dettori, Riccardo; Schmid, Andreas K; Watanabe, Kenji; Taniguchi, Takashi; Cothrine, Matthew; Mandrus, David G; Jozwiak, Chris; Bostwick, Aaron; Henriksen, Erik A; Weber-Bargioni, Alexander; Rotenberg, Eli

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

ALDH5A1 变异导致的结构和功能性蛋白质损伤的表型相关性

Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L DiBacco, Erland Arning, Alexander Rotenberg, Henry H C Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mariarita Bertoldi, Phillip L Pearl

Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish

嵌合型和非嵌合型原钙粘蛋白 19 突变导致斑马鱼神经元兴奋性过高

Barbara K Robens, Xinzhu Yang, Christopher M McGraw, Laura H Turner, Carsten Robens, Summer Thyme, Alexander Rotenberg, Annapurna Poduri