Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies - A Case Report [0.03%]
含有三个SMN2基因拷贝的潜伏期SMA患者反复检测AAV9滴度一例报告
Astrid Eisenkölbl,Manuel Pühringer
Astrid Eisenkölbl
Adeno-associated viruses (AAV) are well-suited to serve as gene transfer vectors. Onasemnogene abeparvovec uses AAV9 as virus vector. Previous exposure to wild-type AAVs or placental transfer of maternal AAV antibodies, however, can trigger...
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation [0.03%]
FKRP相关肌糖苷酶病中Matriglycan水平与疾病表型之间复杂性和不一致性的解析：综述和解释模型
Qi L Lu,Molly C Holbrook,Marcela P Cataldi et al.
Qi L Lu et al.
Dystroglycanopathies are a group of muscle degenerative diseases characterized with significant reduction in matriglycan expression critical in disease pathogenesis. Missense point mutations in the Fukutin-related protein (FKRP) gene cause ...
Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation [0.03%]
面肩肱型肌肉营养不良的欧洲病人调查：评估病人报告疾病负担以及临床试验参与意愿
Megan M McNiff,Sheila Hawkins,Bine Haase et al.
Megan M McNiff et al.
Background: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness leading to permanent disability. There are no curative treatments, however, there are several up...
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry [0.03%]
仅接受onasemnogene abeparvovec单药治疗的脊髓性肌萎缩症患者的现实世界结果：RESTORE注册研究的结果
Laurent Servais,John W Day,Darryl C De Vivo et al.
Laurent Servais et al.
Background: Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broa...
Multicenter Study
Journal of neuromuscular diseases. 2024;11(2):425-442. DOI:10.3233/JND-230122 2024
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy [0.03%]
IL-6 和 TNF 是面肩肱营养不良症的潜在炎性生物标志物
Anna Greco,Karlien Mul,Martin H Jaeger et al.
Anna Greco et al.
Background: FSHD is a highly prevalent inherited myopathy with a still poorly understood pathology. Objective: To investigate whether p...
Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom [0.03%]
吞咽困难的生活：调查探索英国患有神经肌肉疾病成人及其护理人员的经历
Jodi Allen,Aoife Stone-Ghariani,Gabriella Quezada et al.
Jodi Allen et al.
Background: Dysphagia is common in adults living with neuromuscular disease (NMD). Increased life expectancy, secondary to improvements in standards of care, requires the recognition and treatment of dysphagia with an inc...
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy [0.03%]
与神经病变和视神经萎缩相关的NDUFS6基因纯合变异体
Andrea Gangfuß,Philipp Rating,Tomas Ferreira et al.
Andrea Gangfuß et al.
Background: The NADH dehydrogenase [ubiquinone] iron-sulfur protein 6 (NDUFS6) gene encodes for an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Bi-allelic NDUFS6 varian...
Burden of Disease of Duchenne Muscular Dystrophy in Denmark - A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives [0.03%]
杜氏肌营养不良在丹麦的疾病负担-全国登记研究杜氏肌营养不良患者及其直系亲属的情况
Jan Håkon Rudolfsen,John Vissing,Ulla Werlauff et al.
Jan Håkon Rudolfsen et al.
Background: Duchenne Muscular Dystrophy (DMD) is a progressive genetic disease with a prevalence of 1 per 3,600-6,000 male births. Individuals with DMD are typically diagnosed at age 4-7 years; median survival is 30 years...
SERCA1 Overexpression in Skeletal Muscle Attenuates Muscle Atrophy and Improves Motor Function in a Mouse Model of ALS [0.03%]
骨骼肌中SERCA1的过表达减轻了ALS小鼠模型中的肌肉萎缩并改善运动功能
Davi A G Mázala,Dapeng Chen,Eva R Chin
Davi A G Mázala
Background: Amyotrophic lateral sclerosis (ALS) is characterized by progressive loss of muscle mass and muscle function. Previous work from our lab demonstrated that skeletal muscles from a mouse model of ALS show elevate...
The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research [0.03%]
神经肌肉疾病期刊的首个十年：支持并推进快速发展的转化研究领域
Hanns Lochmüller,Carsten G Bönnemann
Hanns Lochmüller