Results 1 to 10 of about 362,296 (275)
Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing
Science Advances, 2021 Base and prime genome editing correct Duchenne muscular dystrophy mutations to restore dystrophin in mice and human cells. Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by the lack of dystrophin, which maintains muscle membrane ...
F. Chemello +9 more
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Life Expectancy in Duchenne Muscular Dystrophy
Neurology, 2021 Background and Objectives Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of its rarity, research literature and patient numbers are ...
J. Broomfield +4 more
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Communications Biology, 2022 A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams +12 more
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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Orphanet Journal of Rare Diseases, 2020 Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available.
S. Crisafulli +5 more
semanticscholar +1 more source
Pediatrics In Review, 2000 Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
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Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo
Journal of Nanobiotechnology, 2020 Background The polymer-based drug/gene delivery is promising for the treatment of inherent or acquire disease, because of the polymer’s structural flexibility, larger capacity for therapeutic agent, low host immunogenicity and less cost.
Mingxing Wang +5 more
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JAMA Neurology, 2020 This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell +19 more
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Cell Death and Disease, 2023 Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet +21 more
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Emery-Dreifuss muscular dystrophy
Definitions, 2020 Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures.
Hideo Hara +4 more
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