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

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

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

为安格曼综合征患者介入性临床试验开发终点指标:一项前瞻性、纵向、观察性临床研究(FREESIAS)

Tjeertes, Jorrit; Bacino, Carlos A; Bichell, Terry Jo; Bird, Lynne M; Bustamante, Mariana; Crean, Rebecca; Jeste, Shafali; Komorowski, Robert W; Krishnan, Michelle L; Miller, Meghan T; Nobbs, David; Ochoa-Lubinoff, Cesar; Parkerson, Kimberly A; Rotenberg, Alexander; Sadhwani, Anjali; Shen, Mark D; Squassante, Lisa; Tan, Wen-Hann; Vincenzi, Brenda; Wheeler, Anne C; Hipp, Joerg F; Berry-Kravis, Elizabeth

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

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

反义寡核苷酸治疗可挽救Angelman综合征小鼠模型中的UBE3A表达和多种表型

Milazzo, Claudia; Mientjes, Edwin J; Wallaard, Ilse; Rasmussen, Søren Vestergaard; Erichsen, Kamille Dumong; Kakunuri, Tejaswini; van der Sman, A S Elise; Kremer, Thomas; Miller, Meghan T; Hoener, Marius C; Elgersma, Ype

Antagomir-mediated suppression of microRNA-134 reduces kainic acid-induced seizures in immature mice

拮抗剂介导的microRNA-134抑制可减少幼鼠中由红藻氨酸诱导的癫痫发作

Campbell, Aoife; Morris, Gareth; Heller, Janosch P; Langa, Elena; Brindley, Elizabeth; Worm, Jesper; Jensen, Mads Aaboe; Miller, Meghan T; Henshall, David C; Reschke, Cristina R

Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

衡量对安格曼综合征患者及其家庭而言真正重要的因素:以患者为中心的疾病概念模型的发展

Willgoss, Tom; Cassater, Daiana; Connor, Siobhan; Krishnan, Michelle L; Miller, Meghan T; Dias-Barbosa, Carla; Phillips, Dawn; McCormack, Julie; Bird, Lynne M; Burdine, Rebecca D; Claridge, Sharon; Bichell, Terry Jo

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

迈向更完善的雷特综合征诊断和治疗:一种突触障碍模型

Banerjee, Abhishek; Miller, Meghan T; Li, Keji; Sur, Mriganka; Kaufmann, Walter E

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes

安格曼综合征的电生理表型因基因型而异

Frohlich, Joel; Miller, Meghan T; Bird, Lynne M; Garces, Pilar; Purtell, Hannah; Hoener, Marius C; Philpot, Benjamin D; Sidorov, Michael S; Tan, Wen-Hann; Hernandez, Maria-Clemencia; Rotenberg, Alexander; Jeste, Shafali S; Krishnan, Michelle; Khwaja, Omar; Hipp, Joerg F

Transcellular neuroligin-2 interactions enhance insulin secretion and are integral to pancreatic β cell function

跨细胞神经连接蛋白-2相互作用增强胰岛素分泌,是胰岛β细胞功能不可或缺的一部分。

Suckow, Arthur T; Zhang, Charles; Egodage, Sonya; Comoletti, Davide; Taylor, Palmer; Miller, Meghan T; Sweet, Ian R; Chessler, Steven D

Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion

突触蛋白神经连接蛋白及其β-神经连接蛋白复合物的结构分析:折叠和细胞黏附的决定因素

Fabrichny, Igor P; Leone, Philippe; Sulzenbacher, Gerlind; Comoletti, Davide; Miller, Meghan T; Taylor, Palmer; Bourne, Yves; Marchot, Pascale