Results 31 to 40 of about 362,296 (275)
Molecular Therapy: Methods & Clinical Development, 2018 Muscular dystrophy-dystroglycanopathies (MDDGs) resulting from fukutin-related protein (FKRP) gene mutations are rare disorders that result in a wide spectrum of clinical severity based on the age of onset, the degree of myogenic atrophy, and/or ...
Charles Harvey Vannoy +2 more
doaj +1 more source
Journal of Translational Medicine, 2023 Introduction The promising potential of adeno-associated virus (AAV) gene delivery strategies to treat genetic disorders continues to grow with an additional three AAV-based therapies recently approved by the Food and Drug Administration and dozens of ...
Christina A. Pacak +7 more
doaj +1 more source
Eteplirsen in the treatment of Duchenne muscular dystrophy
Drug Design, Development and Therapy, 2017 Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500–5,000 male births that is characterized by progressive muscular deterioration.
K. Lim, R. Maruyama, T. Yokota
semanticscholar +1 more source
Nature Communications, 2018 Mutations in FKRP impair glycosylation of alpha-dystroglycan, leading to muscular dystrophy. Here, the authors show that oral administration of ribitol increases dystropglycan glycosylation and ameliorates symptoms of muscular dystrophy in FKRP-deficient
Marcela P. Cataldi +3 more
doaj +1 more source
CRISPR Correction of Duchenne Muscular Dystrophy.
Annual Review of Medicine, 2019 The ability to efficiently modify the genome using CRISPR technology has rapidly revolutionized biology and genetics and will soon transform medicine.
Yi-Li Min, R. Bassel-Duby, E. Olson
semanticscholar +1 more source
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
Facioscapulohumeral Muscular Dystrophy.
Continuum, 2018 OBJECTIVE Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy, affecting individuals across the lifespan with variable severity.
Renatta N Knox
semanticscholar +1 more source
Nature Communications, 2019 Dystrophin-deficient mice are used to test corrective strategies for Duchenne muscular dystrophy, but evaluation of dystrophin expression requires collection of tissue samples from specific muscles and time points.
Leonela Amoasii +11 more
doaj +1 more source
iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling
eLife, 2022 Skeletal muscle myoblasts (iMyoblasts) were generated from human induced pluripotent stem cells (iPSCs) using an efficient and reliable transgene-free induction and stem cell selection protocol.
Dongsheng Guo +15 more
doaj +1 more source
Long-term Evaluation of AAV-CRISPR Genome Editing for Duchenne Muscular Dystrophy
Nature Medicine, 2018 Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therapeutic genome editing. There have been several recent reports of genome editing in preclinical models of Duchenne muscular dystrophy1–6, however, the long-term persistence
Christopher E. Nelson +11 more
semanticscholar +1 more source