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

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2

肌营养不良蛋白缺乏型肢带型肌营养不良症R2型临床结局研究中高密度脂蛋白相关胆固醇异常

White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis

肌营养不良蛋白病(LGMDR2)进展建模:纵向脂肪分数分析

Bolano-Diaz, Carla Florencia; Reyngoudt, Harmen; Wilson, Ian J; James, Meredith K; Smith, Fiona Elizabeth; Caldas de Almeida Araujo, Ericky; Gordish-Dressman, Heather; Hilsden, Heather; Rufibach, Laura E; Wallace, Dorothy; Ward, Louise; Stramare, Roberto; Rampado, Alessandro; Smith, Mark; Boisserie, Jean-Marc; Le Louer, Julien; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Sawyer, Anne Marie; Day, John W; Jones, Kristi J; Walter, Maggie Christine; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Mendell, Jerry R; Pegoraro, Elena; Straub, Volker; Blamire, Andrew M; Carlier, Pierre; Diaz-Manera, Jordi

Clinical trials with interim analyses: standardizing terminology to increase clarity

临床试验中期分析:规范术语以提高清晰度

Asikanius, Elina; Hofner, Benjamin; Hampson, Lisa V; Wassmer, Gernot; Jennison, Christopher; Mielke, Tobias; Kunz, Cornelia Ursula; Rufibach, Kaspar

Oncology Clinical Trial Design Planning Based on a Multistate Model That Jointly Models Progression-Free and Overall Survival Endpoints

基于多状态模型的肿瘤临床试验设计规划,该模型联合模拟无进展生存期和总生存期终点

Erdmann, Alexandra; Beyersmann, Jan; Rufibach, Kaspar

Applying the estimand and target trial frameworks to external control analyses using observational data: a case study in the solid tumor setting

将估计量和目标试验框架应用于基于观察性数据的外部对照分析:以实体瘤为例

Polito, Letizia; Liang, Qixing; Pal, Navdeep; Mpofu, Philani; Sawas, Ahmed; Humblet, Olivier; Rufibach, Kaspar; Heinzmann, Dominik

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Survival analysis for AdVerse events with VarYing follow-up times (SAVVY): summary of findings and assessment of existing guidelines

针对不同随访时间的不良反应事件的生存分析(SAVVY):研究结果总结及现有指南评估

Rufibach, Kaspar; Beyersmann, Jan; Friede, Tim; Schmoor, Claudia; Stegherr, Regina

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy

利用靶向 RNA 测序解决 Dysferlinopathy 的致病变异并提高诊断率

Laura Rufibach, Kiera Berger, Samya Chakravorty, Sarah Emmons, Laurie Long, Greg Gibson, Madhuri Hegde

Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

一项为期三年的定量磁共振成像和磷磁共振波谱研究,旨在探讨肌营养不良症患者下肢肌肉的变化。

Reyngoudt, Harmen; Smith, Fiona E; Caldas de Almeida Araújo, Ericky; Wilson, Ian; Fernández-Torrón, Roberto; James, Meredith K; Moore, Ursula R; Díaz-Manera, Jordi; Marty, Benjamin; Azzabou, Noura; Gordish, Heather; Rufibach, Laura; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Boisserie, Jean-Marc; Le Louër, Julien; Hilsden, Heather; Sutherland, Helen; Canal, Aurélie; Hogrel, Jean-Yves; Jacobs, Marni; Stojkovic, Tanya; Bushby, Kate; Mayhew, Anna; Straub, Volker; Carlier, Pierre G; Blamire, Andrew M