The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report [0.03%]
杜氏肌营养不良患儿（0-3岁）早期护理会议报告
Niki Armstrong,Susan Apkon,Kiera N Berggren et al.
Niki Armstrong et al.
Objective: This report summarizes the key discussions from the "Early Care (0-3 years) in Duchenne Muscular Dystrophy" meeting, which aimed to address the challenges and opportunities in the diagnosis and care of Duchenne...
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain [0.03%]
脊髓性肌萎缩症中的Risdiplam的用药安全概况及其在英国儿童群体早期药品准入计划中的应用
Nikki Cornell,Anne-Marie Childs,Elizabeth Wraige et al.
Nikki Cornell et al.
Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuro...
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling [0.03%]
反义寡核苷酸介导的IGFBP下调增强IGF-1信号传导
Alper Yavas,Maaike van Putten,Annemieke Aartsma-Rus
Alper Yavas
Insulin-like growth factor-1 (IGF-1) has been considered as a therapeutic agent for muscle wasting conditions including Duchenne muscular dystrophy as it stimulates muscle regeneration, growth and function. Several preclinical and clinical ...
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study [0.03%]
贝克型肌肉营养不良表型变异的特征分析：面向临床实践和实验准备的两年随访研究
Giulia Ricci,Alessandra Govoni,Francesca Torri et al.
Giulia Ricci et al.
Background: Becker muscular dystrophy (BMD) is a dystrophinopathy due to in-frame mutations in the dystrophin gene (DMD) which determines a reduction of dystrophin at muscle level. BMD has a wide spectrum of clinical vari...
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa [0.03%]
COMET试验中被迫使用活力肺活量的后hoc非参数分析证明Avalglucosidase Alfa比Alglucosidase Alfa更优越
Matthias Boentert,Emmanuelle Salort Campana,Shahram Attarian et al.
Matthias Boentert et al.
In the COMET trial of patients with late-onset Pompe disease, greater improvement in upright forced vital capacity (FVC) % predicted was observed with avalglucosidase alfa (AVA) vs alglucosidase alfa (ALGLU) (estimated treatment difference:...
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy [0.03%]
脊髓性肌萎缩症新生儿筛查和基因替代疗法的父母体验研究
Alayne P Meyer,Anne M Connolly,Kathryn Vannatta et al.
Alayne P Meyer et al.
Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder with onset predominantly in infants and children. In recent years, newborn screening and three treatments, including gene replacement thera...
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies [0.03%]
补体、微血管病变和炎症在特发性炎症性肌病中的作用
Masaya Honda,Fumitaka Shimizu,Ryota Sato et al.
Masaya Honda et al.
Purpose of review: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group characterized by muscle weakness and skin symptoms and are categorized into six subtypes: dermatomyositis (DM), polymyositis (PM), ant...
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy' [0.03%]
与周围神经病变相关的TRIP4新变异：扩大ASC1相关肌病的临床和基因谱范围
Ivana Frongia,Carlotta Spagnoli,Susanna Rizzi et al.
Ivana Frongia et al.
Activating Signal Cointegrator 1 complex (ASC-1 complex) is a ribonucleoprotein tetramer participating in transcriptional coactivation and RNA processing, consisting of four subunits: ASCC1-ASCC3 and ASC-1. Pathogenic variants in the TRIP4 ...
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity [0.03%]
苏格兰西部m.3243A>G突变线粒体疾病患者的临床表型及影响疾病严重程度的因素
Charlie Saunders,Cheryl Longman,Grainne Gorman et al.
Charlie Saunders et al.
Background: The m.3243A>G variant is the commonest mitochondrial (mt) DNA pathogenic variant and a frequent cause of mitochondrial disease. Individuals present with a variety of clinical manifestations from diabetes to ne...
Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany [0.03%]
德国全国患者登记处脊髓性肌萎缩症患儿自我报告的健康相关生活质量：初步见解
Erik Landfeldt,Berenike Leibrock,Justine Hussong et al.
Erik Landfeldt et al.
Background: Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness. ...