Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy [0.03%]
SMA EFFORT的发展：表征脊髓肌萎缩症中体力疲劳感知的新方法
Rafael Rodriguez-Torres,Cara H Kanner,Emma L Gay et al.
Rafael Rodriguez-Torres et al.
Background: Fatigue and fatigability are commonly reported in spinal muscular atrophy (SMA). Physical fatigability, proposed to be the most relevant to SMA pathophysiology, encompasses performance-based and perceived phys...
Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study [0.03%]
越南Charcot-Marie-Tooth疾病遗传景观的前瞻性多中心研究
Hoang Tien Trong Nghia,Thirugnanam Umapathi,Nguyen Minh Duc et al.
Hoang Tien Trong Nghia et al.
Background: In many developing regions, genetic data on Charcot-Marie-Tooth disease (CMT) remains scarce. Objective: This study aimed t...
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset [0.03%]
未治疗脊髓性肌萎缩婴儿吞咽生物力学和功能的特征：一项自然史数据集研究
Katlyn Elizabeth McGrattan,Robert J Graham,Alicia Hofelich Mohr et al.
Katlyn Elizabeth McGrattan et al.
Background: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder that in its most severe form, causes profound swallowing deficits. There remains a paucity of research systematically elucidating the biome...
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease [0.03%]
纤维脂肪生成前体细胞在肌肉疾病治疗中的潜力探索
Marshall W Hogarth,Medha P Kurukunda,Karim Ismat et al.
Marshall W Hogarth et al.
Skeletal muscle relies on its inherent self-repair ability to withstand continuous mechanical damage. Myofiber-intrinsic processes facilitate the repair of damage to sarcolemma and sarcomeres, but it is the coordinated interaction between m...
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape [0.03%]
杜兴氏肌肉营养不良患者内分泌和骨骼问题的国际研讨会报告：一个不断变化的领域 - 由父母项目肌肉营养不良发起togroup
Leanne M Ward,David R Weber,Sze Choong Wong et al.
Leanne M Ward et al.
In April 2023, over 30 experts and advocates from four countries met in Rome, Italy to discuss unmet needs in endocrine and bone health care for individuals with Duchenne muscular dystrophy (DMD). Despite recent advances in muscle-targeted ...
Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study [0.03%]
芬兰嗜酸性粒细胞肌病和相关先天性肌病患者的营养状况：初步研究
Vilma-Lotta Lehtokari,Minna Similä,Marianne Tammepuu et al.
Vilma-Lotta Lehtokari et al.
Background: The muscle weakness in patients with nemaline myopathy (NM) and related disorders (NMR) often affects the muscles used for eating and dining, and some scientific evidence of poorer nutritional status of patien...
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1 [0.03%]
静息态功能磁共振成像中超连接作为I型肌强直性营养不良疾病严重程度的标志物
Joana Garmendia,Garazi Labayru,Antonio Jiménez-Marín et al.
Joana Garmendia et al.
Introduction: Myotonic dystrophy type 1 (DM1) patients show both structural and functional brain alterations, including abnormal resting-state (RS) functional connectivity. Although some studies have investigated RS funct...
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis [0.03%]
富含巨噬细胞的炎症性肌病[IMAM]：系统分析及其与皮肌炎的区别病理方法
Ahmed Bamaga,Maher Kurdi,Alaa Alkhotani et al.
Ahmed Bamaga et al.
Background: Inflammatory myopathy with abundant macrophage [IMAM] is marked by macrophage infiltration and muscle fibers damage, resembling dermatomyositis [DM] but with unique pathology. Its mechanism remains unclear. Ou...
Optimizing DMD management in Asia: Current challenges and future directions [0.03%]
优化亚洲DMD管理：当前挑战与未来方向
Wen-Chin Weng,Sophelia H S Chan,Roy Gomez et al.
Wen-Chin Weng et al.
Background: Since 1970, advances in Duchenne muscular dystrophy (DMD) management have significantly extended the patients' life expectancy. However, DMD remains universally fatal. ...
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea [0.03%]
韩国杜氏肌营养不良综合多学科治疗现状
Won Ah Choi,Hee Jae Park,Seong-Woong Kang et al.
Won Ah Choi et al.
Background: With advancements in cardiorespiratory care, the lifespan of patients with Duchenne Muscular Dystrophy (DMD) has significantly increased, shifting the focus from merely extending life to enhancing quality of l...