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Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

open access: yesMolecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou   +1 more
doaj   +2 more sources

Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies [PDF]

open access: yesBiomolecules, 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
doaj   +2 more sources

Physiology of respiratory disturbances in muscular dystrophies [PDF]

open access: yesBreathe, 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
core   +3 more sources

Different outcome of sarcoglycan missense mutation between human and mouse [PDF]

open access: yes, 2018
Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
Bourg, Nathalie   +6 more
core   +21 more sources

Genetic analysis of muscular dystrophies: our experience in Mexico

open access: yesFolia 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
doaj   +1 more source

Bioengineered in vitro skeletal muscles as new tools for muscular dystrophies preclinical studies

open access: yesJournal 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

Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies

open access: yesInternational Journal of Molecular Sciences, 2021
Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are ...
Coralie Croissant   +3 more
semanticscholar   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

open access: yesIndian 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
doaj   +1 more source

Diagnosis of Cardiac Abnormalities in Muscular Dystrophies

open access: yesMedicina, 2021
Muscular disorders are mainly characterized by progressive skeletal muscle weakness. There are several aspects that can be monitored, which are used to differentiate between the types of muscular disorders, ranging from the targeted muscle up to the ...
Elisabeta Bădilă   +3 more
doaj   +1 more source

Orofacial Manifestations Associated with Muscular Dystrophies: A Review

open access: yesTurkish Journal of Orthodontics, 2022
The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou   +2 more
doaj   +1 more source

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