Results 41 to 50 of about 104,787 (267)
Molecular Therapy: Methods & Clinical Development, 2021 Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene, is a lethal neuromuscular disease. Correction of DMD mutations in animal models has been achieved by CRISPR/Cas9 genome editing using Streptococcus pyogenes Cas9 ...
Yu Zhang +10 more
doaj +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2019 Purpose Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs.
Ryan S. Paquin +13 more
doaj +1 more source
Arthritis Care &Research, EarlyView.We report the national burden of dermatopolymyositis mortality over the past quarter century using the US national vital statistics data. Age‐standardized mortality rates for dermatopolymyositis decreased at an annual rate of 3.8% each year, which was higher than the annual percent decrease for deaths from all other causes.
Elizabeth Matz, Ram R. Singh
wiley +1 more source
Nature Communications, 2023 Skeletal muscle fibers express distinct gene programs during development and maturation, but the underlying gene regulatory networks that confer stage-specific myofiber properties remain unknown.
Matthieu Dos Santos +10 more
doaj +1 more source
Biosupercapacitors for Human‐Powered Electronics
Advanced Functional Materials, EarlyView.Biosupercapacitors are emerging as biocompatible and integrative energy systems for next‐generation bioelectronics, offering rapid charge–discharge performance and mechanical adaptability. This review systematically categorizes their applications from external to organ‐level systems and highlights their multifunctional roles in sensing, actuation, and ...
Suhyeon Kim +7 more
wiley +1 more source
The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells
FEBS Open BioHeterogeneous nuclear ribonucleoproteins (hnRNPs) bind to RNA, regulating gene expression and splicing. HnRNP L contributes to muscle development and the pathogenesis of myotonic dystrophy.
Hannah R. Littel +8 more
doaj +1 more source
CDK inhibitors for muscle stem cell differentiation and self-renewal
Journal of Physical Fitness and Sports Medicine, 2017 Regeneration of muscle is undertaken by muscle stem cell populations named satellite cells which are normally quiescent or at the G0 phase of the cell cycle.
Amrudha Mohan, Atsushi Asakura
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Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Cell Death and Disease, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a cause of profound disability.
Justin Cohen +10 more
doaj +1 more source