Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis [0.03%]
杜氏肌营养不良患者失 ambulation 的预后因素：系统性回顾和元分析
E Landfeldt,A Alemán,S Abner et al.
E Landfeldt et al.
Objective: The objective of this study was to describe predictors of loss of ambulation in Duchenne muscular dystrophy (DMD). Methods: ...
Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy [0.03%]
stride velocity 95th centile在检测杜氏肌营养不良患者步行功能下降方面优于6分钟步行试验和northern star ambulatory assessment（nsaa）评分表
Michael Rabbia,Maitea Guridi Ormazabal,Hannah Staunton et al.
Michael Rabbia et al.
Background: Stride Velocity 95th Centile (SV95C) is the first wearable device-derived clinical outcome assessment (COA) to receive European Medicines Agency (EMA) qualification as a primary endpoint in ambulant patients w...
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy [0.03%]
杜氏肌营养不良症患者在使用Delandistrogene Moxeparvovec基因疗法后对某些不良事件的管理措施
Craig M Zaidman,Natalie L Goedeker,Amal A Aqul et al.
Craig M Zaidman et al.
Background: Duchenne muscular dystrophy (DMD) is a rare, degenerative, recessive X-linked neuromuscular disease. Mutations in the gene encoding dystrophin lead to the absence of functional dystrophin protein. Individuals ...
The Association Between Physical Activity/Heart Rate Variability Data Obtained Using a Wearable Device and Timed Motor Functional Tests in Patients with Duchenne Muscular Dystrophy: A Pilot Study [0.03%]
穿戴设备获得的运动量/心率变异性数据与杜氏肌营养不良患者时程性运动功能检测结果之间的相关性：一项初步研究
Akinori Nakamura,Tsuyoshi Matsumura,Yasuhiro Takeshima et al.
Akinori Nakamura et al.
Background: Duchenne muscular dystrophy (DMD) is a devastating X-linked muscle disease. Clinical evaluation of DMD uses patient-intensive motor function tests, and the recent development of wearable devices allows the col...
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes [0.03%]
NEFL相关表型谱系的新型遗传和生化启示
Adela Della Marina,Andreas Hentschel,Artur Czech et al.
Adela Della Marina et al.
Background: NEFL encodes for the neurofilament light chain protein. Pathogenic variants in NEFL cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT) which present with a varying degree o...
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbent Assay1 [0.03%]
乙酰胆碱受体自身抗体的检测及几种商业化方法的评估：固定细胞基质试验、放射免疫沉淀试验和酶联免疫吸附试验
Larissa Diogenes,Alessandra Dellavance,Danielle Cristiane Baldo et al.
Larissa Diogenes et al.
Background/objective: Myasthenia Gravis (MG) is an autoimmune disorder characterized by pathogenic autoantibodies (AAbs) targeting nicotinic acetylcholine receptors (AChR), disrupting neuromuscular communication. RadioImm...
Brain Alteration Patterns in Children with Duchenne Muscular Dystrophy: A Machine Learning Approach to Magnetic Resonance Imaging [0.03%]
Duchenne肌营养不良儿童脑改变的磁共振影像组学研究
Denis Peruzzo,Tommaso Ciceri,Sara Mascheretti et al.
Denis Peruzzo et al.
Background: Duchenne Muscular Dystrophy (DMD) is a genetic disease in which lack of the dystrophin protein causes progressive muscular weakness, cardiomyopathy and respiratory insufficiency. DMD is often associated with o...
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3 [0.03%]
脊肌萎缩症2型和3型下颌功能的自然史研究
H Willemijn van Bruggen,Camiel A Wijngaarde,Faylynn Asselman et al.
H Willemijn van Bruggen et al.
Background: Hereditary proximal spinal muscular atrophy (SMA) is characterized by abnormal alpha motor neuron function in brainstem and spinal cord. Bulbar dysfunction, including limited mouth opening, is present in the m...
Observational Study
Journal of neuromuscular diseases. 2024;11(3):655-664. DOI:10.3233/JND-240007 2024
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review [0.03%]
肌神经疾病患者报告结果测量的系统综述研究
Nicoline Voet,Ronne Pater,Joana Garmendia et al.
Nicoline Voet et al.
Patient-reported outcome measures (PROMs) are valuable in comprehensively understanding patients' health experiences and informing healthcare decisions in research and clinical care without clinicians' input. Until now, no central resource ...
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases [0.03%]
面部表情异常的治疗方案：面肩肱型肌营养不良及其他神经疾病的系统评价研究
Nathaniël B Rasing,Willianne A van de Geest-Buit,On Ying A Chan et al.
Nathaniël B Rasing et al.
Background: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments fo...