Trunk control status in children with neuromuscular disorders and typically developing children: Is there a measurable difference? [0.03%]
神经肌肉疾病儿童与正常发育儿童的躯干控制能力状况：是否存在可测量的区别？
Tania E Sakanaka,Penelope B Butler,Richa Kulshrestha et al.
Tania E Sakanaka et al.
Aim: To test sensitivity of the Segmental Assessment of Trunk Control (SATCo) to changes in neutral vertical (NV) head and trunk control in children with neuromuscular disorders (NMD) and compared with typically developin...
Therapeutic strategies targeting muscle stem cells in satellite cell-opathies [0.03%]
针对卫星细胞病理性状的肌肉干细胞治疗策略
Pauline Garcia,Inès Mokhtari,Nicolas A Dumont
Pauline Garcia
Satellite cells, the resident muscle stem cells, are essential for skeletal muscle post-natal growth and regeneration. Dysfunction in these cells contributes to a group of muscle disorders known as satellite cell-opathies, which can be cate...
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1 [0.03%]
一分钟步行试验中DM1患者的步态变化分析
Fabio Alexander Storm,Eleonora Diella,Luca Emanuele Molteni et al.
Fabio Alexander Storm et al.
Background: Myotonic Dystrophy Type 1 is a rare multisystem disorder, with symptoms including progressive muscle weakness, myotonia and fatigue. Although mobility measures are now common in several tests performed in clin...
The natural history of Becker muscular dystrophy: A systematic literature review [0.03%]
贝克尔型肌营养不良的自然病史：系统文献综述
Alexis T Mickle,Karissa M Johnston,Kristen L Ricchetti-Masterson et al.
Alexis T Mickle et al.
Background: Becker muscular dystrophy (BMD) is caused primarily by in-frame mutations in the DMD gene. Phenotype varies from asymptomatic to severe; manifestations may include muscle weakness, scoliosis, cardiac involveme...
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...