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

Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers

VWA1 相关神经肌病的蛋白质组学研究提供了新的病理生理学见解和血液生物标志物的定义

Mohammed Athamneh, Nassam Daya, Andreas Hentschel, Andrea Gangfuss, Tobias Ruck, Adela Della Marina, Ulrike Schara-Schmidt, Albert Sickmann, Anne-Katrin Güttsches, Marcus Deschauer, Corinna Preusse, Matthias Vorgerd, Andreas Roos

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

不同皮质类固醇剂量方案对杜氏肌营养不良症男孩临床疗效的影响:一项随机临床试验

Guglieri, Michela; Bushby, Kate; McDermott, Michael P; Hart, Kimberly A; Tawil, Rabi; Martens, William B; Herr, Barbara E; McColl, Elaine; Speed, Chris; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M; Eagle, Michelle; Brown, Mary W; Willis, Tracey; Griggs, Robert C; Straub, Volker; van Ruiten, Henriette; Childs, Anne-Marie; Ciafaloni, Emma; Shieh, Perry B; Spinty, Stefan; Maggi, Lorenzo; Baranello, Giovanni; Butterfield, Russell J; Horrocks, I A; Roper, Helen; Alhaswani, Zoya; Flanigan, Kevin M; Kuntz, Nancy L; Manzur, Adnan; Darras, Basil T; Kang, Peter B; Morrison, Leslie; Krzesniak-Swinarska, Monika; Mah, Jean K; Mongini, Tiziana E; Ricci, Federica; von der Hagen, Maja; Finkel, Richard S; O'Reardon, Kathleen; Wicklund, Matthew; Kumar, Ashutosh; McDonald, Craig M; Han, Jay J; Joyce, Nanette; Henricson, Erik K; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Wilichowski, Ekkehard; Barohn, Richard J; Statland, Jeffrey M; Campbell, Craig; Vita, Giuseppe; Vita, Gian Luca; Howard, James F Jr; Hughes, Imelda; McMillan, Hugh J; Pegoraro, Elena; Bello, Luca; Burnette, W Bryan; Thangarajh, Mathula; Chang, Taeun

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

对 SPTLC1 功能获得性突变的神经肌源性谱的新见解

Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuss, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience

X连锁肌管性肌病诊断——德国20年随访经验

Gangfuss, Andrea; Schmitt, Dirk; Roos, Andreas; Braun, Frederik; Annoussamy, Melanie; Servais, Laurent; Schara-Schmidt, Ulrike