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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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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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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Physiology of respiratory disturbances in muscular dystrophies [PDF]
Breathe, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
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Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Arquivos de Neuro-Psiquiatria, 2014 Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta +10 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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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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Neurological Research and Practice, 2022 Background Major efforts have been made in the last decade to develop and improve therapies for proximal spinal muscular atrophy (SMA). The introduction of Nusinersen/Spinraza™ as an antisense oligonucleotide therapy, Onasemnogene abeparvovec/Zolgensma ...
S. Jablonka, Luisa Hennlein, M. Sendtner
semanticscholar +1 more source
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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Bioengineered in vitro skeletal muscles as new tools for muscular dystrophies preclinical studies
Journal of Tissue Engineering, 2021 Muscular dystrophies are a group of highly disabling disorders that share degenerative muscle weakness and wasting as common symptoms. To date, there is not an effective cure for these diseases.
J. Fernández‐Costa +3 more
semanticscholar +1 more source