Longitudinal treatment patterns in myasthenia gravis: An analysis from the prospective Dutch-Belgian patient registry [0.03%]
重症肌无力的纵向治疗模式：来自荷兰-比利时前瞻性患者登记处的一项分析
Linda Remijn-Nelissen,Martijn R Tannemaat,Jan Jgm Verschuuren
Linda Remijn-Nelissen
Background: Understanding treatment patterns in myasthenia gravis (MG) is crucial for clinical practice. However, longitudinal data are limited. Objective...
RNA therapies are delivering as therapies for neuromuscular dystrophy patients: Editorial for the special issue on RNA therapies in Journal of Neuromuscular Diseases [0.03%]
用于神经肌肉疾病患者的RNA疗法：关于《神经肌肉疾病杂志》RNA治疗专刊的社论
Annemieke Aartsma-Rus,Shin&#x;ichi Takeda
Annemieke Aartsma-Rus
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies [0.03%]
世界杜氏肌肉 dystrophy 组织多方利相关者药物开发圆桌会议报告重点介绍疗法临床开发挑战
Annemieke Aartsma-Rus
Annemieke Aartsma-Rus
Duchenne muscular dystrophy (DMD) is a muscle wasting disease where patients lose muscle tissue and function. The disease is caused by pathogenic variants that abolish the production of functional dystrophin protein. There are many therapeu...
Sara S Ali,Pankaj B Agrawal
Sara S Ali
Congenital disorders are a significant contributor to neonatal intensive care unit (NICU) admissions and neonatal mortality, adding to substantial healthcare costs and emotional burden for families. The introduction of rapid next-generation...
Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice [0.03%]
脊髓性肌萎缩患者日常生活活动能力受限的系统评价及临床实践多学科建议
Marta Ruggiero,Gabriele Giannotta,Giulia Morleo et al.
Marta Ruggiero et al.
Objective: This scoping review aims to explore and map the most frequently reported limitations in activities of daily living (ADLs) among individuals with spinal muscular atrophy (SMA), with the goal of informing clinica...
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence [0.03%]
德国、奥地利和瑞士关于使用onasemnogene abeparvovec治疗脊髓性肌萎缩的德尔菲共识（第一部分）：系统文献回顾及现有证据
Claudia Weiß,Katharina Vill,Matthias Baumann et al.
Claudia Weiß et al.
BackgroundSince the approval of onasemnogen abeparvovec (OA) for gene addition therapy in children with spinal muscular atrophy (SMA), there has been a considerable increase of evidence regarding its effectiveness and safety. Consequently, ...
Paediatric medicines development for Duchenne muscular dystrophy: An EU regulatory perspective [0.03%]
杜氏肌营养不良症儿童用药研发的欧盟监管视角
Sylvie Benchetrit,Céline Chu,Dimitrios Athanasiou et al.
Sylvie Benchetrit et al.
BackgroundDuchenne muscular dystrophy (DMD) is a severe muscle disease with an unmet therapeutic need. Despite ongoing research efforts, only a few medicines have achieved marketing authorisation in the EU to date. We present a regulatory s...
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review [0.03%]
MYH2相关性肌病的临床病理遗传特征及文献系统回顾
Beatrice Labella,Guy Brochier,Maud Beuvin et al.
Beatrice Labella et al.
Pathogenic variants in the MYH2 gene are associated with congenital myopathy. We report 13 unrelated patients and a systematic review of published cases through 30 October 2024, supplemented by HGMD Pro (2024.2) and LOVD (https://www.lovd.n...
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy? [0.03%]
kyphoscoliosis肽酶缺乏引起的肌原纤维变性、线粒体局部耗竭和蛋白质聚集：真正的肌原纤维肌病？
Hacer Durmuş,Christoph S Clemen,Evren Önay Uçar et al.
Hacer Durmuş et al.
Homozygous KY variants have been described to cause congenital myopathy, myofibrillar myopathy type 7, and hereditary spastic paraplegia. We report the findings in two families harboring the homozygous missense NM_178554.4:c.727T > C p.(Cys...
MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review [0.03%]
线粒体DNA变异导致成人发病的遗传性痉挛性轻偏瘫型瘫痪一例及文献复习
Lola Er Lessard,Danielle K Bourque,Pierre J Bourque et al.
Lola Er Lessard et al.
BackgroundHereditary spastic paraplegia (HSP) is a heterogenous group of rare genetic disorders characterized by progressive corticospinal and dorsal spinal cord axonal degeneration manifesting as muscle weakness and spasticity of the lower...