Clinical Experience with Eculizumab in Treatment-Refractory Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis [0.03%]
治疗难治性乙酰胆碱受体抗体阳性全身型重症肌无力的依库珠单抗临床应用经验
Nakul Katyal,Naureen Narula,Raghav Govindarajan
Nakul Katyal
Background: Although established therapies are effective in most patients with generalized myasthenia gravis (gMG), some patients do not respond or they experience intolerable adverse events, highlighting the need for bet...
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine [0.03%]
针对骨骼肌离子通道病的靶向治疗：系统评价及精准医学展望
Jean-François Desaphy,Concetta Altamura,Savine Vicart et al.
Jean-François Desaphy et al.
Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseas...
Iranian Registry of Duchenne and Becker Muscular Dystrophies: Characterization and Preliminary Data [0.03%]
伊朗杜氏肌营养不良和贝克尔肌营养不良注册表：特征及初步数据
Farhad Bayat,Isis G Sarmiento,Negar Ahmadian et al.
Farhad Bayat et al.
Duchenne (DMD) and Becker muscular dystrophies (BMD) are rare neuromuscular disorders caused by mutations in the dystrophin gene and failure in its protein production. The absence or the reduced expression of dystrophin render muscles prone...
Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1 [0.03%]
一种个体化家庭式肌迟缓性营养不良1型患者力量训练方案的效果及可接受度研究
Isabelle Lessard,Sébastien Gaboury,Cynthia Gagnon et al.
Isabelle Lessard et al.
Background: Muscle weakness is a cardinal sign of myotonic dystrophy type 1, causing important functional mobility limitations and increasing the risk of falling. As a non-pharmacological, accessible and safe treatment fo...
Randomized Controlled Trial
Journal of neuromuscular diseases. 2021;8(1):137-149. DOI:10.3233/JND-200570 2021
Stefano Schiaffino,Carlo Reggiani,Takayuki Akimoto et al.
Stefano Schiaffino et al.
Skeletal muscle hypertrophy can be induced by hormones and growth factors acting directly as positive regulators of muscle growth or indirectly by neutralizing negative regulators, and by mechanical signals mediating the effect of resistanc...
Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report [0.03%]
乙酰胆碱受体α亚基新突变所致慢通道型先天性重症肌无力一例报告
Inuka Kishara Gooneratne,Shanika Nandasiri,Susan Maxwell et al.
Inuka Kishara Gooneratne et al.
Congenital myasthenic syndromes (CMS) result from genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. The slow-channel CMS (SCCMS) is an autosomal dominant postsynaptic d...
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience [0.03%]
X染色体连锁性肌管型肌病的诊断-德国20年随访经验
Andrea Gangfuss,Dirk Schmitt,Andreas Roos et al.
Andrea Gangfuss et al.
X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independent...
Vasculitic Peripheral Neuropathy, Differences Between Systemic and Non-Systemic Etiologies: A Case Series and Biopsy Report [0.03%]
血管性外周神经病，全身性和非全身性病因的差异：病例系列和活检报告
J I Castiglione,M Marrodan,L Alessandro et al.
J I Castiglione et al.
Background: Vasculitic peripheral neuropathy (VPN) is caused by vessel inflammation leading to peripheral nerve injury of acute-to-subacute onset. When VPN occurs in the context of systemic disease it is classified as Sys...
The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy [0.03%]
SMA全球患者登记项目研究报告：脊髓性肌萎缩症患者的 demographics 和临床特征概述
Lisa Belter,Jill Jarecki,Sandra P Reyna et al.
Lisa Belter et al.
Background: Cure SMA maintains the largest patient-reported database for people affected with spinal muscular atrophy (SMA). In 2017, Cure SMA initiated annual surveys with their membership to collect demographic and dise...
Multicenter Study
Journal of neuromuscular diseases. 2021;8(1):109-123. DOI:10.3233/JND-200563 2021
Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy [0.03%]
糖皮质激素在肌营养不良中的机制及临床应用研究进展
Mattia Quattrocelli,Aaron S Zelikovich,Isabella M Salamone et al.
Mattia Quattrocelli et al.
Glucocorticoid steroids are widely used as immunomodulatory agents in acute and chronic conditions. Glucocorticoid steroids such as prednisone and deflazacort are recommended for treating Duchenne Muscular Dystrophy where their use prolongs...