Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches [0.03%]
GNED207VTgGne-/–Cmah-/–模型中GNE肌病肌肉神经氨酸表达的可视化：饮食和基因治疗的比较
Kelly E Crowe,Deborah A Zygmunt,Kristin Heller et al.
Kelly E Crowe et al.
Background: GNE myopathy (GNEM) is a rare, adult-onset, inclusion body myopathy that results from mutations in the GNE gene. GNE encodes UDP-GlcNAc epimerase/ManNAc-6 kinase, a protein with two enzymatic activities that c...
Comparative Study
Journal of neuromuscular diseases. 2022;9(1):53-71. DOI:10.3233/JND-200575 2022
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy [0.03%]
识别血清白细胞介素 6 水平作为面肩肱肌营养不良严重程度生物标志物
Marilyn Gros,Andreia M Nunes,Douglas Daoudlarian et al.
Marilyn Gros et al.
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies in adults, displaying a progressive, frequently asymmetric involvement of a typical muscles' pattern. FSHD is associated with ...
Elise N Engquist,Peter S Zammit
Elise N Engquist
The resident stem cell for skeletal muscle is the satellite cell. On the 50th anniversary of its discovery in 1961, we described the history of skeletal muscle research and the seminal findings made during the first 20 years in the life of ...
Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A [0.03%]
年轻的C22小鼠骨骼肌的早期变化，一种Charcot-Marie-Tooth 1A模型
Friederike Deres,Stephanie Schwartz,Karin Kappes-Horn et al.
Friederike Deres et al.
Background: The C22 mouse is a Charcot-Marie-Tooth 1A transgenic model with minimal axonal loss. Objective: To analyse early skeletal m...
Sharing "Negative" Results in Neuromuscular Research: A Positive Experience [0.03%]
神经肌肉研究中分享“阴性”结果的积极体验
Virginia Arechavala-Gomeza,Annemieke Aartsma-Rus
Virginia Arechavala-Gomeza
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment [0.03%]
长期依普利森治疗的长期功能预后联合前瞻性及回顾性比较提示步行能力丧失和肺功能下降延迟
Olga Mitelman,Hoda Z Abdel-Hamid,Barry J Byrne et al.
Olga Mitelman et al.
Background: Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over 4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable genetic mutations. Chart review Study 4658-405 ...
Randomized Controlled Trial
Journal of neuromuscular diseases. 2022;9(1):39-52. DOI:10.3233/JND-210665 2022
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report [0.03%]
遗传性肝内胆汁淤积与X连锁肌管肌病(XLMTM)的自然史显著相关：系列病例及活检报告
Cristina Molera,Tinatin Sarishvili,Andrés Nascimento et al.
Cristina Molera et al.
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be ass...
Electrostatic Coating of Viral Particles for Gene Delivery Applications in Muscular Dystrophies: Influence of Size on Stability and Antibody Protection [0.03%]
病毒颗粒的静电包覆在肌营养不良基因传递中的应用：大小对稳定性及抗体制备的影响
Marta Guerra-Rebollo,María Stampa,Miguel Ángel Lázaro et al.
Marta Guerra-Rebollo et al.
Background: Duchenne Muscular Dystrophy (DMD) is one of the most common muscular dystrophies, caused by mutated forms of the dystrophin gene. Currently, the only treatment available is symptoms management. Novel approxima...
Farzad Fatehi,Soroor Advani,Ali Asghar Okhovat et al.
Farzad Fatehi et al.
Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patte...