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

A dual-reporter mouse for therapeutic discovery in Angelman syndrome

用于安格曼综合征治疗发现的双报告基因小鼠

Vihma, Hanna; James, Lucas M; Nourie, Hannah C; Smith, Audrey L; Liang, Siyuan; Friar, Carlee A; Vulli, Tasmai; Xing, Lei; Cowley, Dale O; Burette, Alain C; Philpot, Benjamin D

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

距离研发出安格曼综合征的疾病改善疗法又近了一步

Judson, Matthew C; de Almeida, Luis Pereira; Burdine, Rebecca D; Chamberlain, Stormy J; Deverman, Benjamin E; Distel, Ben; Ehlers, Michael D; Jalazo, Elizabeth; Kushner, Steven A; Nespeca, Mark; Sanders, Stephan J; Scheffner, Martin; Yi, Jason J; Zylka, Mark J; Elgersma, Ype; Philpot, Benjamin D

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy

O-GalNAc糖基化紊乱是SLC35A2相关癫痫的机制和生物标志物

Mealer, Robert G; Anderson, James J; Smith, Sheridan L; Masters, Brianna M; Barth, Samuel H; Huizar, Kaitlyn D J; Sran, Sahibjot; Yoon, Hyojung; Ringland, Amanda; Muron, Savannah J; Bowyer, MaryAnn E; D'Gama, Alissa M; Poduri, Annapurna; Lidov, Hart G W; Yang, Edward; Furnari, Julia; Canoll, Peter D; Ostendorf, Adam P; Koboldt, Daniel C; Pierson, Christopher R; Thomas, Diana L; Philpot, Benjamin D; Noel, Maxence; Cummings, Richard D; Heinzen, Erin L; Bedrosian, Tracy A

Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes.

UBE3A 对 Angelman 综合征行为表型的细胞类型特异性贡献。

Ringelberg Nicholas W, Mayfield Renée E, Lord Julia S, Diering Graham H, Burette Alain C, Philpot Benjamin D

Regional analysis of myelin basic protein across postnatal brain development of C57BL/6J mice.

C57BL/6J小鼠出生后脑发育过程中髓鞘碱性蛋白的区域分析

Ozarkar Siddhi S, Patel Ridthi K R, Vulli Tasmai, Friar Carlee A, Burette Alain C, Philpot Benjamin D

Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention

在Pitt-Hopkins综合征模型小鼠中,幼年期TCF4的重新表达揭示了基因干预的关键窗口。

James, Lucas M; Friar, Carlee A; Liang, Siyuan; Gao, Eric B; Burette, Alain C; Philpot, Benjamin D

Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures

安格曼综合征患儿脑脊液外体积增多:与睡眠问题和癫痫发作有关

Chen, Zumin; Garic, Dea; Xu, Yinuo; Smith, Rachel G; Weisenfeld, Leigh Anne H; Kim, Sun Hyung; Styner, Martin A; Piven, Joseph; Philpot, Benjamin D; Hazlett, Heather C; Shen, Mark D

Large-scale discovery of neural enhancers for cis-regulation therapies

大规模发现用于顺式调控疗法的神经增强剂

McDiarmid, Troy A; Page, Nicholas F; Chardon, Florence M; Daza, Riza M; Chen, George T; Kosicki, Michael; James, Lucas M; Nourie, Hannah C; Laboy-Cintrón, Dianne; Lee, Arthur S; Vij, Paula; Calderon, Diego; Lalanne, Jean-Benoît; Martin, Beth K; Fink, Kyle; Talkowski, Michael E; Muotri, Alysson R; Philpot, Benjamin D; Pennacchio, Len A; Geschwind, Daniel H; Sanders, Stephan J; Ahituv, Nadav; Shendure, Jay

SORDINO for Silent, Sensitive, Specific, and Artifact-Resisting fMRI in awake behaving mice.

SORDINO 用于对清醒行为小鼠进行无声、灵敏、特异且抗伪影的 fMRI 成像

MacKinnon Martin J, Song Sheng, Chao Tzu-Hao Harry, Hsu Li-Ming, Albert Scott T, Ma Yuncong, Shnitko Tatiana A, Wang Tzu-Wen Winnie, Nonneman Randy J, Freeman Corey D, Ozarkar Siddhi S, Emir Uzay E, Shen Mark D, Philpot Benjamin D, Hantman Adam W, Lee Sung-Ho, Chang Wei-Tang, Shih Yen-Yu Ian

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome

对人类和小鼠大脑白质发育的比较分析揭示了安格曼综合征患者存在体积不足和髓鞘形成延迟。

Ozarkar, Siddhi S; Patel, Ridthi K-R; Vulli, Tasmai; Smith, Audrey L; Styner, Martin A; Hsu, Li-Ming; Lee, Sung-Ho; Shih, Yen-Yu Ian; Hazlett, Heather C; Shen, Mark D; Burette, Alain C; Philpot, Benjamin D