Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene [0.03%]
CAVNA1S基因c.1583G>A（p.R528H）突变患者的早发显性遗传性肌病的临床及病理特征：无周期性瘫痪，伴纤维内空泡和管状包涵体形成
Michela Bisciglia,Hazim Kadhim,Sophie Lecomte et al.
Michela Bisciglia et al.
Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles contai...
Dilek Cavusoglu,Beril Talim,Gazanfer Ekinci et al.
Dilek Cavusoglu et al.
Anti-HMGCR myopathy is decribed as an immune-mediated necrotizing myopathy which is characterised by subacute, progressive proximal muscle weakness and elevated creatine kinase (CK) level. In pediatric population, anti-HMGCR myopathy has be...
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease [0.03%]
通过重新分析外显子组测序数据提高线粒体疾病诊断率
Catarina Olimpio,Ida Paramonov,Leslie Matalonga et al.
Catarina Olimpio et al.
Background: The genetic diagnosis of mitochondrial disorders is complicated by its genetic and phenotypic complexity. Next generation sequencing techniques have much improved the diagnostic yield for these conditions. A c...
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review [0.03%]
系统评价：渐冻症临床试验的方法学质量
Elisabetta Pupillo,Ammar Al-Chalabi,Serena Sassi et al.
Elisabetta Pupillo et al.
Background: More than 200 clinical trials have been performed worldwide in ALS so far, but no agents with substantial efficacy on disease progression have been found. ...
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND) [0.03%]
杜氏肌肉营养不良症相关神经行为障碍筛查表（DuMAND）的制定及试点验证
Sam Geuens,Nathalie Goemans,Jurgen Lemiere et al.
Sam Geuens et al.
Background: Patients with Duchenne muscular dystrophy (DMD) face a higher risk of neurobehavioral problems, yet an international consensus on screening, assessing, and managing these difficulties is lacking. ...
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021 [0.03%]
e健康与创新在神经肌肉疾病中的应用以克服障碍。第3届eNMD大会报告：意大利比萨，2021年10月29-30日
Erika Schirinzi,Mario Alessandro Bochicchio,Hanns Lochmüller et al.
Erika Schirinzi et al.
Neuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies. Fro...
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach [0.03%]
脊髓性肌萎缩症儿童吞咽功能的评定：一种简便客观的多维度方法
Charlotte Colot,Sarah Benmechri,Elke Everaert et al.
Charlotte Colot et al.
Background: Spinal muscular atrophy (SMA), a genetic neuromuscular disease caused by lack of survival of motor neuron (SMN) protein, is characterized by muscular atrophy and respiratory and bulbar dysfunction. While swall...
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice [0.03%]
杜氏肌营养不良相关神经行为障碍：临床实践带来的启示
Sam Geuens,Nathalie Goemans,Jurgen Lemiere et al.
Sam Geuens et al.
Background: Emerging evidence underscores the high prevalence of neurobehavioral difficulties like ADHD, ASD and OCD, in patients with Duchenne muscular dystrophy (DMD). The substantial impact of these complex behavioral ...
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa [0.03%]
IMPatienT：一个集成的网络应用，用于数字化、处理和探索多模态患者数据
Corentin Meyer,Norma Beatriz Romero,Teresinha Evangelista et al.
Corentin Meyer et al.
Medical acts, such as imaging, lead to the production of various medical text reports that describe the relevant findings. This induces multimodality in patient data by combining image data with free-text and consequently, multimodal data h...
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT [0.03%]
CMT患者的肢体运动障碍与肌肉协同收缩变化有关
Tiziana Lencioni,Virginia Bandini,Cristina Schenone et al.
Tiziana Lencioni et al.
Background: Subjects with Charcot-Marie-Tooth (CMT) disease show hands impairment which is a relevant problem affecting the quality of life. This symptom is related to muscle weakness and reduced motor coordination of the...