Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing [0.03%]
受试者在接受安慰剂和Delandistrogene Moxeparvovec治疗后的一些功能改善可能由皮质类固醇剂量增加所致
Eric P Hoffman,Paula R Clemens,Laura Hagerty et al.
Eric P Hoffman et al.
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel [0.03%]
ClinVar中先天性肌病基因临床有效性的判定
Justyne E Ross,May Flowers,Shannon McNulty et al.
Justyne E Ross et al.
Background: Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically su...
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods [0.03%]
钙蛋白病（ limb-girdle 型肌营养不良症 R1）的临床特征、诊断方法和生物技术治疗方法
Sergey N Bardakov,Irina Sorochanu,Lilit A Mkrtchyan et al.
Sergey N Bardakov et al.
Calpainopathy, or limb-girdle muscular dystrophy type R1/2A (LGMDR1/2A), is the most prevalent form of LGMD, comprising about 32% of all cases. The disease is caused by mutations in the CAPN3 gene, leading to dysfunction of the correspondin...
Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study [0.03%]
DMSXL小鼠模型中I型肌迟缓性营养不良(DM1)的逆转和消退学习改变的探索性研究
Sylvia Nieuwenhuis,Denys Kozakov,Kasia Kapusta et al.
Sylvia Nieuwenhuis et al.
BackgroundCognitive changes in type 1 myotonic dystrophy (DM1) have a pronounced negative effect on quality of life measures. Despite this, the neural basis of these changes is poorly understood. DM1 patients demonstrate deficits in motivat...
Systematic review for economic evaluations on newborn screening for spinal muscular atrophy [0.03%]
脊髓性肌萎缩症新生儿筛查卫生经济学评价系统综述研究
Alexander C Pace,Corrina Poon,Pranesh Chakraborty et al.
Alexander C Pace et al.
ObjectiveEvaluate the quality and cost-effectiveness of economic evaluations of newborn screening (NBS) for Spinal Muscular Atrophy (SMA).MethodsA systematic review was conducted following Cochrane Handbook guidelines and PRISMA-S checklist...
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report [0.03%]
TNNT1单核苷酸变异导致横纹肌溶解症患者胎型肌球蛋白表达异常：病例报告
Milla Laarne,Ali Oghabian,Jenni Laitila et al.
Milla Laarne et al.
Background: Slow skeletal troponin T (ssTnT, TNNT1) is the tropomyosin-binding subunit of the troponin complex in the slow-twitch fibers of skeletal muscle. Exon 5 of TNNT1 is alternatively spliced, and retention of the 3...
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease [0.03%]
定义神经肌肉疾病患者肺活量临床意义阈值：庞贝病COMET研究的启示
Kenneth I Berger,Cristina Ivanescu,Jérôme Msihid et al.
Kenneth I Berger et al.
BackgroundRespiratory impairment in neuromuscular disorders (NMDs) is generally assessed using forced vital capacity (FVC). Any improvement in FVC trajectory will delay ventilatory support; however, the change required for patients to perce...
Exploring self-management of diet and physical activity in CACNA1S-related hypokalemic periodic paralysis: A qualitative interview study [0.03%]
与CACNA1S相关的低钾性周期性瘫痪的饮食和身体活动自我管理探索：定性访谈研究
Natasha Lervaag Welland,Benedicte Hagen Venås,Mari Ellefsen-Martinsen et al.
Natasha Lervaag Welland et al.
Background: Hypokalemic Periodic Paralysis (HypoPP) is a rare genetic neuromuscular disorder characterized by attacks of skeletal muscle weakness or paralysis with spontaneous recovery. The attacks are frequently triggere...
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults [0.03%]
中老年人三种神经退行性生物标志物的短期和长期自然史
Rikuta Hamaya,Pamela M Rist,Varant Kupelian et al.
Rikuta Hamaya et al.
Background: Little is known about the longitudinal trajectories of novel neurodegenerative biomarkers including neurofilament light (NfL), tau, and glial fibrillary acidic protein (GFAP). ...
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America [0.03%]
拉美国家的患者及护理者脊髓性肌萎缩症治疗属性偏好研究
Victoria Saenz,Marijana Chlistalla,Nayara Carlos et al.
Victoria Saenz et al.
Background: Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease associated with a significant burden of illness to both patients and caregivers; however, there is little evidence available regarding...