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

Research progress in SYNGAP1-related neurodevelopmental disorders: from pathogenesis to therapeutic strategies

SYNGAP1相关神经发育障碍的研究进展:从发病机制到治疗策略

Zhang, Jia; Xue, Gong; Wang, Xiaoqian; Rao, Xueyi; Chen, Jun; Fan, Lijuan; Liu, Liqin; Gan, Jing

AAV delivery of full-length SYNGAP1 rescues epileptic and behavioral phenotypes in a mouse model of SYNGAP1-related disorders

在SYNGAP1相关疾病的小鼠模型中,通过腺相关病毒(AAV)递送全长SYNGAP1可挽救癫痫和行为表型。

Meagan A Quinlan,Rong Guo,Andrew G Clark,Emily M Luber,Robert J Christian,Refugio A Martinez,Erin L Groce,Jiatai Liu,Yemeserach M Bishaw,Ravi Bhowmik,Elizabeth Liang,Melissa Reding,Kara Ronellenfitch,Vonn Wright,Kathryn M Gudsnuk,Jennifer M Leedy,John K Mich,Bryan B Gore,Tanya L Daigle,Manuel E Lopez,Ed S Lein,Justin K Ichida,Boaz P Levi

Dissociation of SYNGAP1 enzymatic and structural roles: Intrinsic excitability and seizure susceptibility

SYNGAP1酶促作用和结构作用的分离:内在兴奋性和癫痫易感性

Brill, Julia; Clarke, Blaise; Hong, Ingie; Huganir, Richard L

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

家族性SYNGAP1变异定义了一种伴有癫痫的复杂神经发育障碍的边界。

Harrison, Alicia G; Magielski, Jan H; McSalley, Ian; Ganesan, Shiva; Prentice, Anna J; Cunningham, Kristin G; Pierce, Samuel R; Boland, Michael J; Prosser, Benjamin L; Helbig, Ingo; McKee, Jillian L

Clinical signatures of SYNGAP1-related disorders through data integration

通过数据整合分析SYNGAP1相关疾病的临床特征

McKee, Jillian L; Magielski, Jan H; Xian, Julie; Cohen, Stacey; Toib, Jonathan; Harrison, Alicia; Chen, Chen; Kim, Dan; Rathod, Aakash; Brimble, Elise; Fitter, Nasha; Graglia, J Michael; Helde, Kathryn A; McKeown Ruggiero, Sarah; Boland, Michael J; Prosser, Benjamin L; Sederman, Rob; Helbig, Ingo

Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database

对从SYNGAP1相关疾病患者收集的回顾性自然史数据进行分析:对Citizen数据库的初步研究

Scott, Matthew R; Misko, Albert; Liu, Yang; Sverdlov, Oleksandr

Epigenetic regulation of SYNGAP1 in alcohol use disorder in whole blood and saliva

全血和唾液中SYNGAP1的表观遗传调控在酒精使用障碍中的作用

Edelmann, Susanne; Kummer, Christine; Pasche, Sarah; Zimmermann, Milan; Nieratschker, Vanessa

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability

对患有SYNGAP1相关智力障碍的儿童进行自闭症和注意力缺陷多动障碍特征分析

Wright, Damien; Kenny, Aisling; Mizen, Lindsay A M; McKechanie, Andrew G; Stanfield, Andrew C

SYNGAP1 Syndrome and the Brain Gene Registry

SYNGAP1综合征与脑基因登记处

Greco, Melissa R; Chatterjee, Maya; Taylor, Alexa M; Gropman, Andrea L

The MNK-SYNGAP1 axis in specific learning disorder: gene expression pattern and new perspectives

MNK-SYNGAP1轴在特定学习障碍中的作用:基因表达模式及新视角

Isik, Cansu Mercan; Bayyurt, Elif Burcu Tuzemen; Sahin, Nil Ozbilum