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

New hope for older SMA patients with next-generation self-complementary AAV gene therapy

新一代自互补AAV基因疗法为老年SMA患者带来新希望

Nakai, Hiroyuki; Finanger, Erika L; Samulski, Richard Jude

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

吉维诺司他治疗杜氏肌营养不良症的长期疗效评价及自然病程比较

McDonald, Craig M; Guglieri, Michela; Vučinić, Dragana; Acsadi, Gyula; Brandsema, John F; Bruno, Claudio; Finanger, Erika L; Harper, Amy; Lobato, Mercedes Lopez; Masson, Riccardo; Muelas, Nuria; Munell, Francina; Nevo, Yoram; Péréon, Yann; Phan, Han; Sansone, Valeria A; Scoto, Mariacristina; Willis, Tracey; Finkel, Richard S; Vandenborne, Krista; Cazzaniga, Sara; Montrasio, Silvia; Alessi, Federica; Bettica, Paolo; Mercuri, Eugenio

Clinical importance of changes in magnetic resonance biomarkers for Duchenne muscular dystrophy

磁共振生物标志物变化对杜氏肌营养不良症的临床意义

Willcocks, Rebecca J; Barnard, Alison M; Daniels, Michael J; Forbes, Sean C; Triplett, William T; Brandsema, John F; Finanger, Erika L; Rooney, William D; Kim, Sarah; Wang, Dah-Jyuu; Lott, Donovan J; Senesac, Claudia R; Walter, Glenn A; Sweeney, H Lee; Vandenborne, Krista

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function

DMD患者挛缩的发展与MRI测定的肌肉质量和行走功能的关系

Willcocks, Rebecca J; Barnard, Alison M; Wortman, Ryan J; Senesac, Claudia R; Lott, Donovan J; Harrington, Ann T; Zilke, Kirsten L; Forbes, Sean C; Rooney, William D; Wang, Dah-Jyuu; Finanger, Erika L; Tennekoon, Gihan I; Daniels, Michael J; Triplett, William T; Walter, Glenn A; Vandenborne, Krista

Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance

杜氏肌营养不良症男孩步态活动监测及其与磁共振测量和功能表现的相关性

Nair, Kavya S; Lott, Donovan J; Forbes, Sean C; Barnard, Alison M; Willcocks, Rebecca J; Senesac, Claudia R; Daniels, Michael J; Harrington, Ann T; Tennekoon, Gihan I; Zilke, Kirsten; Finanger, Erika L; Finkel, Richard S; Rooney, William D; Walter, Glenn A; Vandenborne, Krista

Upper and Lower Extremities in Duchenne Muscular Dystrophy Evaluated with Quantitative MRI and Proton MR Spectroscopy in a Multicenter Cohort

在多中心队列研究中,采用定量磁共振成像和质子磁共振波谱法评估杜氏肌营养不良症患者的上肢和下肢

Forbes, Sean C; Arora, Harneet; Willcocks, Rebecca J; Triplett, William T; Rooney, William D; Barnard, Alison M; Alabasi, Umar; Wang, Dah-Jyuu; Lott, Donovan J; Senesac, Claudia R; Harrington, Ann T; Finanger, Erika L; Tennekoon, Gihan I; Brandsema, John; Daniels, Michael J; Sweeney, H Lee; Walter, Glenn A; Vandenborne, Krista

MR biomarkers predict clinical function in Duchenne muscular dystrophy

磁共振生物标志物可预测杜氏肌营养不良症的临床功能

Barnard, Alison M; Willcocks, Rebecca J; Triplett, William T; Forbes, Sean C; Daniels, Michael J; Chakraborty, Saptarshi; Lott, Donovan J; Senesac, Claudia R; Finanger, Erika L; Harrington, Ann T; Tennekoon, Gihan; Arora, Harneet; Wang, Dah-Jyuu; Sweeney, H Lee; Rooney, William D; Walter, Glenn A; Vandenborne, Krista

Modeling disease trajectory in Duchenne muscular dystrophy

杜氏肌营养不良症疾病轨迹建模

Rooney, William D; Berlow, Yosef A; Triplett, William T; Forbes, Sean C; Willcocks, Rebecca J; Wang, Dah-Jyuu; Arpan, Ishu; Arora, Harneet; Senesac, Claudia; Lott, Donovan J; Tennekoon, Gihan; Finkel, Richard; Russman, Barry S; Finanger, Erika L; Chakraborty, Saptarshi; O'Brien, Elliott; Moloney, Brendan; Barnard, Alison; Sweeney, H Lee; Daniels, Michael J; Walter, Glenn A; Vandenborne, Krista

Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy

骨骼肌磁共振生物标志物与杜氏肌营养不良症的功能和关键事件相关

Barnard, Alison M; Willcocks, Rebecca J; Finanger, Erika L; Daniels, Michael J; Triplett, William T; Rooney, William D; Lott, Donovan J; Forbes, Sean C; Wang, Dah-Jyuu; Senesac, Claudia R; Harrington, Ann T; Finkel, Richard S; Russman, Barry S; Byrne, Barry J; Tennekoon, Gihan I; Walter, Glenn A; Sweeney, H Lee; Vandenborne, Krista