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

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy

专家就肢带型肌营养不良症患者的基因诊断方法达成共识

Straub, Volker; Clause, Amanda R; Donkervoort, Sandra; Kang, Peter B; Laverty, Chamindra G; Niu, Zhiyv; Wicklund, Matthew P; Bönnemann, Carsten G; Cooper, Sandra T; Díaz-Manera, Jordi; Johnson, Nicholas E; Narayanaswami, Pushpa; Vissing, John; Walter, Maggie C; Craige, Caryne; Weihl, Conrad C

Assessment of Phosphorodiamidate Morpholino Oligomer Treatment Patterns for Patients with Duchenne Muscular Dystrophy: A MarketScan Claims Analysis

杜氏肌营养不良症患者磷脂酰二胺吗啉代寡聚体治疗模式评估:MarketScan索赔分析

Klimchak, Alexa C; Signorovitch, James; Innis, Bryan; Laverty, Chamindra G; Gooch, Katherine

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Danon disease in male patients: a prospective natural history study to augment understanding of the phenotype

男性患者达农病:一项前瞻性自然史研究,旨在增进对该表型的了解

Khedro, Tarek; Attias, Jennifer; Eshraghian, Emily; Tsotras, Melina; Margolin, Emily; Yassin, Shaden; Silver, Elizabeth; Bui, Quan; Borooah, Shyamanga; Laverty, Chamindra G; Taylor, Matthew R G; Adler, Eric D; Hong, Kimberly N

Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies

医疗保健利益相关者对杜氏肌营养不良症疗法价值评估方法的看法

Fischer, Ryan; Furlong, Pat; Kennedy, Annie; Maynard, Kelly; Penrod, Marissa; Miller, Debra; Laverty, Chamindra G; Lowes, Linda P; Kuntz, Nancy L; Shieh, Perry B; Kondejewski, Jane; Neumann, Peter J; Shafrin, Jason; Willke, Richard J

Effectiveness of long-term noninvasive ventilation measured by remote monitoring in neuromuscular disease

通过远程监测评估长期无创通气在神经肌肉疾病中的疗效

Orr, Jeremy E; Chen, Kenneth; Vaida, Florin; Schmickl, Christopher N; Laverty, Chamindra G; Ravits, John; Lesser, Daniel; Bhattacharjee, Rakesh; Malhotra, Atul; Owens, Robert L