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

Oral splicing modulator branaplam in Huntington's disease: a phase 2 randomized controlled trial

口服剪接调节剂布拉那普拉姆治疗亨廷顿病:一项 II 期随机对照试验

Borowsky, Beth; Ramos, Harry; Caputo, Angelika; Hartmann, Andreas; Faller, Thomas; Peters, Thomas; Sui, Yihan; Liu, Fonda; Meadowcroft, Mark; David, Olivier J; Laisney, Marc; Kinhikar, Arvind; Marder, Karen S; Tabrizi, Sarah J; Landwehrmeyer, G Bernhard; Leavitt, Blair R

MiniPromoters Ple384 (TH) and Ple388 (PITX3) for targeting midbrain dopaminergic neurons in mice and monkeys

用于靶向小鼠和猴子中脑多巴胺能神经元的微型启动子 Ple384 (TH) 和 Ple388 (PITX3)

Galvan, Adriana; Choi, Diane; Korecki, Andrea J; de Moura Gomes, Alissandra; Fornes, Oriol; Tanimura, Jun; Farkas, Rachelle A; Lam, Siu Ling; Lu, Ge; Petkau, Terri L; Yao, Anqi; Wasserman, Wyeth W; Leavitt, Blair R; Simpson, Elizabeth M; Smith, Yoland

Challenges and advances for huntingtin detection in cerebrospinal fluid: in support of relative quantification.

脑脊液中亨廷顿蛋白检测的挑战与进展:支持相对定量

Harding Rachel J, Xie Yuanyun, Caron Nicholas S, Findlay-Black Hailey, Lyu Caroline, Potluri Nalini, Chandrasekaran Renu, Hayden Michael R, Leavitt Blair R, Langbehn Douglas R, Southwell Amber L

Safety and Efficacy of Deutetrabenazine at High versus Lower Daily Dosages in the ARC-HD Study to Treat Chorea in Huntington Disease

在ARC-HD研究中,高剂量与低剂量氘代丁苯那嗪治疗亨廷顿舞蹈症的安全性和有效性比较

Frank, Samuel; Testa, Claudia M; Goldstein, Jody; Kayson, Elise; Leavitt, Blair R; Oakes, David; O'Neill, Christine; Whaley, Jacquelyn; Gross, Nicholas; Chaijale, Nayla; Barash, Steve; Gordon, Mark Forrest

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

靶向 AASS 可减轻神经毒性,并改善吡哆醇依赖性癫痫星形胶质细胞模型中的线粒体功能。

Schuurmans Imke M E, Engelke Udo, Abedrabbo Muna, Puvogel Sofía, Mijdam Rachel, Scholten Gijs-Jan, van Katwijk Sara B, Oudakker Astrid, Al-Shekaili Hilal H, Lefeber Dirk J, Leavitt Blair R, van Karnebeek Clara D M, Nadif Kasri Nael, Garanto Alejandro

Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration

亨廷顿病中的遗传地形和皮质细胞丢失与发育和神经退行性变有关

Estevez-Fraga, Carlos; Altmann, Andre; Parker, Christopher S; Scahill, Rachael I; Costa, Beatrice; Chen, Zhongbo; Manzoni, Claudia; Zarkali, Angeliki; Durr, Alexandra; Roos, Raymund A C; Landwehrmeyer, Bernhard; Leavitt, Blair R; Rees, Geraint; Tabrizi, Sarah J; McColgan, Peter

Progressive alterations in white matter microstructure across the timecourse of Huntington's disease

亨廷顿病病程中白质微结构的进行性改变

Estevez-Fraga, Carlos; Elmalem, Michael S; Papoutsi, Marina; Durr, Alexandra; Rees, Elin M; Hobbs, Nicola Z; Roos, Raymund A C; Landwehrmeyer, Bernhard; Leavitt, Blair R; Langbehn, Douglas R; Scahill, Rachael I; Rees, Geraint; Tabrizi, Sarah J; Gregory, Sarah

Canadian healthcare capacity gaps for disease-modifying treatment in Huntington's disease: a survey of current practice and modelling of future needs

加拿大亨廷顿病疾病改善治疗的医疗保健能力缺口:现状调查及未来需求预测

Bénard, Angèle; Chouinard, Sylvain; Leavitt, Blair R; Budd, Nathalie; Wu, Jennifer W; Schoffer, Kerrie

Association of CAG Repeats With Long-term Progression in Huntington Disease

CAG重复序列与亨廷顿病长期进展的相关性

Langbehn, Douglas R; Stout, Julie C; Gregory, Sarah; Mills, James A; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A C; Long, Jeffrey D; Owen, Gail; Johnson, Hans J; Borowsky, Beth; Craufurd, David; Reilmann, Ralf; Landwehrmeyer, G Bernhard; Scahill, Rachael I; Tabrizi, Sarah J

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

一项关于谷氨酰胺编码DNA序列结构、体细胞CAG重复序列扩增和DNA修复基因变异与亨廷顿病临床结局的遗传关联研究

Ciosi, Marc; Maxwell, Alastair; Cumming, Sarah A; Hensman Moss, Davina J; Alshammari, Asma M; Flower, Michael D; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A C; Holmans, Peter; Jones, Lesley; Langbehn, Douglas R; Kwak, Seung; Tabrizi, Sarah J; Monckton, Darren G