Results 11 to 20 of about 104,787 (267)
Molecular Therapy: Methods & Clinical Development, 2020 Dystroglycanopathy, a subgroup of muscular dystrophies, is characterized by hypoglycosylation of α-dystroglycan (α-DG), which reduces its laminin-binding activity to extracellular matrix proteins, causing progressive loss of muscle integrity and function.
Marcela P. Cataldi +4 more
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Orphanet Journal of Rare Diseases, 2017 Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
Ingrid E. C. Verhaart +7 more
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Molecular Therapy: Nucleic Acids, 2016 A series of poly(esteramine)s (PEAs) constructed from low molecular weight polyethyleneimine (LPEI) and Pluronic were evaluated for the delivery of antisense oligonuclotides (AOs), 2′-O-methyl phosphorothioate RNA (2′-OMePS) and phosphorodiamidate ...
Mingxing Wang +5 more
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Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang +8 more
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Applied Sciences, 2022 Data dictionaries for clinical trials are often created manually, with data structures and controlled vocabularies specific for a trial or family of trials within a sponsor’s portfolio.
Chima Amadi +7 more
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Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin
Scientific Reports, 2021 Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop +10 more
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Orphanet Journal of Rare Diseases, 2017 Background Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential ...
Elizabeth Harris +16 more
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Health and Quality of Life Outcomes, 2021 Background In clinical trials for rare diseases, such as Duchenne muscular dystrophy, clinical outcome assessments (COA) used to assess treatment benefit are often generic and may not be sensitive enough to detect change in specific patient populations ...
Hannah Staunton +7 more
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The Lancet, 2019 Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
openaire +4 more sources
MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy
Cell Reports, 2023 Summary: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders and has no cure. Due to an unknown molecular mechanism, FSHD displays overlapping manifestations with the neurodegenerative disease amyotrophic ...
Valeria Runfola +5 more
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