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

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

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

对 dup15q 综合征的单细胞分析揭示了自闭症的发育和出生后分子变化

Perez Yonatan, Velmeshev Dmitry, Wang Li, White Matthew L, Siebert Clara, Baltazar Jennifer, Zuo Guolong, Moriano Juan Andrés, Chen Songcang, Steffen David M, Dutton Natalia Garcia, Wang Shaohui, Wick Brittney, Haeussler Maximilian, Chamberlain Stormy, Alvarez-Buylla Arturo, Kriegstein Arnold

Angelman syndrome patient-derived neuron screen leads to clinical ASO rugonersen targeting UBE3A-ATS with long-lasting effect in monkeys.

安格曼综合征患者来源的神经元筛选产生了临床 ASO rugonersen,该药物靶向 UBE3A-ATS,在猴子身上具有持久疗效

Jagasia Ravi, Bon Charlotte, Rasmussen Soren V, Badillo Solveig, Tehler Disa, Buchy Danièle, Berrera Marco, Prasad Megana, Chamberlain Stormy, Terrigno Marco, Pandya Nikhil J, Costa Veronica, Wang Congwei, Pedersen Lykke, Miller Meghan T, Erichsen Kamille Dumong, Joenson Lars, Patsch Christoph, Hipp Joerg F, Bonni Azad, Müller Lutz, Braendli-Baiocco Annamaria, Kremer Thomas, Koller Erich, Hoener Marius C

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.

UBE3A 的恢复可以恢复 Angelman 综合征小鼠模型(印记缺陷)的行为和蛋白质组

Milazzo Claudia, Narayanan Ramanathan, Badillo Solveig, Wang Silvia, Almand Rosaisela, Monshouwer Roos, Tzouros Manuel, Golling Sabrina, Mientjes Edwin, Chamberlain Stormy, Kremer Thomas, Elgersma Ype

The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons

利用患者来源的 CRISPR 校正神经元研究 UBE3A 在自闭症和癫痫相关的 Dup15q 综合征中的作用

Elamin, Marwa; Dumarchey, Aurelie; Stoddard, Christopher; Robinson, Tiwanna M; Cowie, Christopher; Gorka, Dea; Chamberlain, Stormy J; Levine, Eric S

A protein regulated by UBE3A PEGs a potential biomarker

UBE3A PEG 调控的蛋白质是一种潜在的生物标志物

Germain, Noelle D; Chamberlain, Stormy J

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

安格曼综合征的基因型表现出不同程度的临床严重程度和发育障碍。

Keute, Marius; Miller, Meghan T; Krishnan, Michelle L; Sadhwani, Anjali; Chamberlain, Stormy; Thibert, Ronald L; Tan, Wen-Hann; Bird, Lynne M; Hipp, Joerg F

Communication-related assessments in an Angelman syndrome mouse model

在安格曼综合征小鼠模型中进行与沟通相关的评估

Perrino, Peter A; Chamberlain, Stormy J; Eigsti, Inge-Marie; Fitch, Roslyn Holly

Prader-Willi syndrome: reflections on seminal studies and future therapies

普拉德-威利综合征:对开创性研究和未来疗法的思考

Chung, Michael S; Langouët, Maéva; Chamberlain, Stormy J; Carmichael, Gordon G

A bipartite boundary element restricts UBE3A imprinting to mature neurons

二分边界元素将UBE3A印记限制在成熟神经元中。

Hsiao, Jack S; Germain, Noelle D; Wilderman, Andrea; Stoddard, Christopher; Wojenski, Luke A; Villafano, Geno J; Core, Leighton; Cotney, Justin; Chamberlain, Stormy J