Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies [PDF]
Biomolecules, 2023 Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of
Alan Rawls +5 more
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Delivery of genetic medicines for muscular dystrophies [PDF]
Cell Reports MedicineSummary: Muscular dystrophies are a group of heterogenic disorders characterized by progressive muscle weakness, the most common of them being Duchenne muscular dystrophy (DMD).
Yulia Chulanova, Dor Breier, Dan Peer
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The association between oxidative balance score and muscular dystrophies [PDF]
Frontiers in NutritionIntroductionThis research utilized data from the NHANES 2011–2018 study to investigate the connection between the Oxidative Balance Score (OBS) and muscular dystrophies.MethodsThis study is a cross-sectional, observational, secondary analysis utilizing ...
Dupeng Tang +3 more
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Limb-Girdle Muscular Dystrophies
Pediatric Neurology Briefs, 2003 The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
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Misregulation of the Ubiquitin–Proteasome System and Autophagy in Muscular Dystrophies Associated with the Dystrophin–Glycoprotein Complex [PDF]
CellsThe stability of the sarcolemma is severely impaired in a series of genetic neuromuscular diseases defined as muscular dystrophies. These are characterized by the centralization of skeletal muscle syncytial nuclei, the replacement of muscle fibers with ...
Manuela Bozzi +3 more
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Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]
, 2010 Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Brockington, M +7 more
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Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies [PDF]
iScienceSummary: The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells.
Elise N. Engquist +5 more
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Genetic analysis of muscular dystrophies: our experience in Mexico
Folia Neuropathologica, 2021 Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness.
Rosa Elena Escobar-Cedillo +9 more
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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian Journal of Pathology and Microbiology, 2022 Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah +2 more
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A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle. [PDF]
Skelet MuscleIn 't Groen SLM +5 more
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