A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study [0.03%]
一项关于治疗面肩肱型肌营养不良症药物losmapimod的随机、双盲、安慰剂对照研究（REACH研究）结果
Nicol C Voermans,Jeffrey M Statland,Lawrence J Hayward et al.
Nicol C Voermans et al.
Background: Losmapimod is an orally administered small molecule and selective p38α/β mitogen-activated protein kinase (MAPK) inhibitor able to reduce aberrant expression of DUX4 in vitro and thereby potentially slowing ...
Characteristics of muscle cramps as a prodromal symptom of sporadic amyotrophic lateral sclerosis [0.03%]
肌萎缩侧索硬化症前期肌肉抽搐的症状学特征分析
Shota Komori,Daisuke Ito,Atsushi Hashizume et al.
Shota Komori et al.
Background: Prodromal symptoms of sporadic amyotrophic lateral sclerosis (SALS) including muscle cramps were reported; however, their detailed characteristics have not been sufficiently studied. ...
Neurologists' decision-making in the management of generalised myasthenia gravis: Therapeutic inertia and treatment choices [0.03%]
重症肌无力治疗中的神经科医生决策：治疗惰性与治疗选择
Gerardo Gutiérrez-Gutiérrez,Rocío Gómez-Ballesteros,Adrián Ares et al.
Gerardo Gutiérrez-Gutiérrez et al.
The evolving landscape of generalised myasthenia gravis (gMG) treatment with new targeted immunotherapy options presents challenges for neurologists and potentially leads to therapeutic inertia (TI), the failure to initiate or intensify tre...
Substance use may be associated with non-adherence to non-invasive ventilation in adults with myotonic dystrophy type 1 [0.03%]
物质使用可能与1型肌张力不全成人非侵入性通气不依从相关
Jalal Moolji,Erika MacIntyre,Janice Richman-Eisenstat
Jalal Moolji
Adults with myotonic dystrophy type 1 who require non-invasive ventilation (NIV) often have difficulty with adherence. Few risk factors for non-adherence have been identified, and these are mostly unmodifiable. As part of a quality assuranc...
Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living [0.03%]
主动-NDM：开发患者报告成果问卷，以衡量非肌营养不良性肌强直对日常生活活动的影响
Ahmed Amara,Michele Cavalli,Andra Ezaru et al.
Ahmed Amara et al.
Background: There is a considerable challenge in managing non-dystrophic myotonias (NDM), due to the lack of gold-standard outcome measures to assess NDM burden on activities of daily living and quality of life from the p...
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy [0.03%]
脊髓性肌萎缩症改变疾病进程的治疗中肌肉功能和代谢生物标志物纵向队列研究
Lisa Pomp,Jeroen A L Jeneson,Jeanine J Prompers et al.
Lisa Pomp et al.
Disease-modifying treatments (DMT) for spinal muscular atrophy (SMA) developed in the past decade have improved the prognosis of patients with this severe condition. However, treatment effects vary, highlighting the need for sensitive predi...
Strengthening clinical capacity in spinal muscular atrophy: Developing and implementing training on clinical outcome assessments [0.03%]
脊髓性肌萎缩症临床评估能力提升：开展临床结局评估培训项目及实施经验
Homira Osman,Maria Masnata,Zainab Adamji et al.
Homira Osman et al.
Background: Clinical Outcome Assessments (COAs) are essential for monitoring progression and treatment response in neuromuscular diseases. However, substantial variability exists in training, confidence, and implementatio...
Meeting report: 2024 Muscular Dystrophy Association summit on 'Safety and challenges in gene therapy of neuromuscular diseases' [0.03%]
肌营养不良协会2024年“神经肌肉疾病基因治疗的安全性和挑战”峰会报告
Angela Lek,Evrim Atas,Brian Lin et al.
Angela Lek et al.
This meeting report summarizes the presentations and discussions held at the summit on 'Challenges in Gene Therapy' hosted by the Muscular Dystrophy Association (MDA) in 2024. Topics broadly cover in vitro and in vivo models for understandi...
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity [0.03%]
对DM1患者外周血的大规模蛋白质组学分析确定了疾病严重程度和功能能力的生物标志物
Daniël van As,Tine Claeys,Renee Salz et al.
Daniël van As et al.
BackgroundMyotonic Dystrophy Type 1 (DM1), the most common genetic neuromuscular disorder in adults, poses significant challenges for drug development due to its multisystem nature and high clinical variability in symptoms and disease progr...
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance [0.03%]
选择用于研究晚发型脊髓性肌萎缩的小鼠模型：为什么建立SMN2四拷贝模型具有理想的转化相关性
Markus Leo,Linda-Isabell Schmitt,Kai Christine Liebig et al.
Markus Leo et al.
Spinal muscular atrophy (SMA) comprises a spectrum of clinical severities, yet the pathomechanisms of late-onset forms (Type III) remain insufficiently understood. While severe early-onset SMA has been extensively investigated using existin...