How Patient Organizations Can Drive FAIR Data Efforts to Facilitate Research and Health Care: A Report of the Virtual Second International Meeting on Duchenne Data Sharing, March 3, 2021 [0.03%]
患者组织如何推动公平数据工作以促进研究和医疗：2021年3月3日举行的第二届杜氏肌肉营养不良症虚拟国际会议报告
Nawel van Lin,Georgios Paliouras,Elizabeth Vroom et al.
Nawel van Lin et al.
Background: For patients with rare diseases such as Duchenne and Becker muscular dystrophy (DMD/BMD), access to their health data is key to being able to advocate for themselves and be in control of their care. Since 2018...
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire [0.03%]
重症肌无力患者的身体活动状况及其评价方法
Linda Kahr Andersen,John Vissing
Linda Kahr Andersen
Background: Physical activity (PA) in patients with myasthenia gravis (MG) is considered safe and beneficial, and an active lifestyle is required to obtain the health benefits of exercise. However, as the disease leads to...
Changes in Myonuclear Number During Postnatal Growth - Implications for AAV Gene Therapy for Muscular Dystrophy [0.03%]
骨骼肌生长过程中肌核数量的变化及其对AAV基因治疗杜氏肌营养不良的意义
Jennifer Morgan,Francesco Muntoni
Jennifer Morgan
Adult skeletal muscle is a relatively stable tissue, as the multinucleated muscle fibres contain post-mitotic myonuclei. During early postnatal life, muscle growth occurs by the addition of skeletal muscle stem cells (satellite cells) or th...
The Safety Factor for Neuromuscular Transmission: Effects of Dimethylsulphoxide, Cannabinoids and Synaptic Homeostasis [0.03%]
神经肌肉传递的安全因素：二甲亚砜、大麻素和突触稳态的影响
Gianmaria Lorenzo Odierna,William Donald Phillips
Gianmaria Lorenzo Odierna
BackgroundIn myasthenia gravis, impaired postsynaptic sensitivity to acetylcholine results in failure of neuromuscular transmission and fatiguing muscle weakness.ObjectiveDevelop an ex vivo muscle contraction assay to test cannabinoids and ...
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy [0.03%]
眼咽肌营养不良伴行为障碍和额颞叶痴呆
Maurits Tankink,Corinne G C Horlings,Nicol Voermans et al.
Maurits Tankink et al.
Some patients with Oculopharyngeal Muscular Dystrophy (OPMD) develop frontotemporal dementia (FTD). The prevalence and clinical correlates of behavioural impairment, including FTD, is unknown in OPMD.24 OPMD patients and their proxies compl...
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome' [0.03%]
针对莱氏综合征的靶向治疗：系统评价及迈向“治疗组学”步骤
May Yung Tiet,Zhiyuan Lin,Fei Gao et al.
May Yung Tiet et al.
Background: Leigh syndrome (LS) is the most frequent paediatric clinical presentation of mitochondrial disease. The clinical phenotype of LS is highly heterogeneous. Though historically the treatment for LS is largely sup...
Optimized Molecular Interaction Networks for the Study of Skeletal Muscle [0.03%]
用于肌肉组织研究的优化分子相互作用网络
Stephen Morgan,Apostolos Malatras,Stephanie Duguez et al.
Stephen Morgan et al.
Background: Molecular interaction networks (MINs) aim to capture the complex relationships between interacting molecules within a biological system. MINs can be constructed from existing knowledge of molecular functional ...
Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments [0.03%]
基于无标记全身跟踪的SMA儿童定量运动测量与标准化运动评估高度相关
Astrid Blaschek,Nikolas Hesse,Birgit Warken et al.
Astrid Blaschek et al.
Background: Spinal Muscular Atrophy (SMA) is the most common neurodegenerative disease in childhood. New therapeutic interventions have been developed to interrupt rapid motor deterioration. The current standard of clinic...
Female Outperformance in Voluntary Running Persists in Dystrophin-Null and Klotho-Overexpressing Mice [0.03%]
dystrophin基因缺失和klotho过表达小鼠中持久存在的雌性跑动表现优越的现象
Michael Phelps,Zipora Yablonka-Reuveni
Michael Phelps
Background: Duchenne muscular dystrophy is a degenerative muscle disease that results from impairment of the dystrophin gene. The disease causes progressive loss in muscle mass and function. ...
Multifocal Noninvasive Magnetic Stimulation of the Primary Motor Cortex in Type 1 Myotonic Dystrophy -A Proof of Concept Pilot Study [0.03%]
多发性非侵入性皮质磁刺激治疗I型肌强直性营养不良患者的初级运动皮质-概念验证初步研究
Ericka Greene,Jason Thonhoff,Blessy S John et al.
Ericka Greene et al.
Background: Repeated neuromuscular electrical stimulation in type 1 Myotonic Dystrophy (DM1) has previously been shown to cause an increase in strength and a decrease in hyperexcitability of the tibialis anterior muscle. ...