Fatigue as a modifier of diet quality in adults with Charcot Marie Tooth disease [0.03%]
疲劳对Charcot-Marie-Tooth病成人患者饮食质量的影响
Christopher I Morse,Petra Kolić,Gita Ramdharry et al.
Christopher I Morse et al.
Charcot Marie Tooth disease (CMT) is a neurological condition characterised by fatigue alongside motor and sensory impairments. CMT also has a high prevalence of lifestyle dependent co-morbidities, despite which there are limited dietary gu...
Exploring psychosocial experiences in clinically stable generalised Myasthenia Gravis: A thematic analysis [0.03%]
重症肌无力患者的心理社会体验探究：主题分析
Ellie Maycock,Victoria Selby,Michael Hanna et al.
Ellie Maycock et al.
Myasthenia Gravis (MG) is a chronic autoimmune neuromuscular condition that significantly impacts patients' lives. Whilst psychosocial challenges are increasingly recognised as important in understanding the lived experience of patients, in...
Identification of myokines associated with the pathological stress response in the mdx mouse model of Duchenne muscular dystrophy [0.03%]
识别与Duchenne肌营养不良小鼠模型病理应激反应相关的肌细胞因子
Erynn E Johnson,Jacob Powers,James M Ervasti
Erynn E Johnson
Purpose: Skeletal muscle constitutes 30-40% of total body mass and is now considered an endocrine organ, given its secretion of a variety proteins, metabolites, and cytokines. We have previously shown that the absence of ...
Temperature-induced symptoms in adolescents and adults with spinal muscular atrophy [0.03%]
温度诱发的脊髓性肌萎缩症青少年和成人患者的症状
Leandra Aa Ros,Lina M Vermeer,Boudewijn Thm Sleutjes et al.
Leandra Aa Ros et al.
Introduction: Temperature-induced aggravation of weakness is a well-known characteristic of demyelinating and motor neuron disorders. We investigated prevalence, frequency, and severity of symptoms during heat and cold ex...
2nd NMD4C basic research summer school on promoting standardized protocols to advance translational research in neuromuscular disorders [0.03%]
第二届促进神经肌肉疾病转化研究的标准化方案国际夏季研究生研讨会
Adrien Rihoux,Emma Sutton,Jaryeon Lee et al.
Adrien Rihoux et al.
The Neuromuscular Disease Network for Canada aims to accelerate research and improve care for individuals living with neuromuscular disorders by connecting basic scientists, clinicians, and trainees nationwide. As part of this mission, the ...
Gne deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death [0.03%]
成人小鼠GNE基因缺失可导致血小板减少症、贫血、肌病、出血和死亡
Patricia Lam,Deborah A Zygmunt,Macey Bennett et al.
Patricia Lam et al.
The GNE gene encodes the UDP-GlcNAc-2-epimerase/ManNAc kinase, a bifunctional enzyme required for the synthesis of sialic acid. The mouse Gne gene is essential for embryonic development, but humans with recessive partial loss of function GN...
Building capacity for patient-engagement in neuromuscular disease research: A network project [0.03%]
神经肌肉疾病研究中构建患者参与能力：一个网络项目
Patricia Mortenson,Homira Osman,Erin Beattie et al.
Patricia Mortenson et al.
Patient-oriented research is increasingly recognized as an important methodology in health sciences. Benefits of patient engagement include aligning research priorities to those living with health conditions, developing better recruitment s...
Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy [0.03%]
成人5q脊髓性肌萎缩症患者的睡眠质量，不安腿综合征和白天嗜睡症状
Bogdan Bjelica,Kaan Bacara,Camilla Wohnrade et al.
Bogdan Bjelica et al.
BackgroundThis study aimed to investigate sleep quality, restless legs syndrome (RLS), and excessive daytime sleepiness in adults with spinal muscular atrophy (SMA) and their relationships with motor function, quality of life (QoL), fatigue...
Ecosystem Requirements for E-Health and Digital Monitoring in Neuromuscular Disorders [0.03%]
神经肌肉疾病电子健康和数字监测生态系统需求
Benedikt Schoser
Benedikt Schoser
U.S. health plan coverage of Neuromuscular Disease Therapies: An assessment of policy availability and restrictions [0.03%]
美国医疗计划对神经肌肉疾病治疗的覆盖情况评估政策可用性和限制性
A Alex Levine,Julia A Rucker,Alex Cockerham et al.
A Alex Levine et al.
Background: Health plan policies managing neuromuscular disease (NMD) therapies may impose burdensome requirements on patients and providers. While prior research has explored payer restrictions for rare NMD treatments, l...