Results 21 to 30 of about 130,419 (249)

Exon skipping for DMD [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2012
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Annemieke Aartsma-Rus   +4 more
openaire   +2 more sources

Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC) [PDF]

open access: yesIranian Journal of Basic Medical Sciences, 2021
Objective(s): Duchene muscular dystrophy (DMD) is a progressive neuromuscular disease caused by mutations in the DMD gene, resulting in the absence of dystrophin expression leading to membrane fragility and myofibril necrosis in the muscle cells. Because
Mahintaj Dara   +5 more
doaj   +1 more source

Dynamic mode decomposition of numerical data in natural circulation

open access: yesBrazilian Journal of Radiation Sciences, 2021
Dynamic mode decomposition (DMD) has been used for experimental and numerical data analysis in fluid dynamics. Despite of its advantages, the application of the DMD methodology to investigate the natural circulation in nuclear reactors are very scarce in
José Luiz Horacio Faccini
doaj   +1 more source

EXPLORING TRANSIENT, NEUTRONIC, REDUCED-ORDER MODELS USING DMD/POD-GALERKIN AND DATA-DRIVEN DMD [PDF]

open access: yesEPJ Web of Conferences, 2021
There is growing interest in the development of transient, multiphysics models for nuclear reactors and analysis of uncertainties in those models. Reduced-order models (ROMs) provide a computationally cheaper alternative to compute uncertainties. However,
Elzohery Rabab, Roberts Jeremy
doaj   +1 more source

A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy

open access: yesDisease Models & Mechanisms, 2020
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions.
Tatianna Wai Ying Wong   +13 more
doaj   +1 more source

Study on characteristics of flow structure and generation of narrow-band in low-frequency noise for a slat

open access: yesXibei Gongye Daxue Xuebao, 2021
Low-frequency narrow-band noise is one of the important components in the slat noise. Based on the transient flow field analysis for multi-element airfoil 30P-30N, the main mode characteristics of the slat pressure fluctuation are analyzed by means of ...

doaj   +1 more source

DMD/BMD - GENETICS [PDF]

open access: yesNeuromuscular Disorders, 2021
Elena Pegoraro   +9 more
  +16 more sources

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

open access: yesJournal of Comparative Effectiveness Research, 2020
Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).
E. Mercuri   +14 more
semanticscholar   +1 more source

Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress

open access: yesDisease Models & Mechanisms, 2020
Duchenne muscular dystrophy (DMD) is a lethal, X-linked disease that causes severe loss of muscle mass and function in young children. Promising therapies for DMD are being developed, but the long lead times required when using clinical outcome measures ...
Miranda D. Grounds   +5 more
doaj   +1 more source

Experimental Studies on Suppression of Combustion Instability with the Addition of Helium [PDF]

open access: yesJournal of Applied Fluid Mechanics, 2022
When combustion instability occurs, fluctuation in the release of heat couples with oscillating pressure, while the sensitivity of flame to acoustic disturbance restricts the oscillation intensity.
Y. Liu, J. Li, Z. Tian, T. Zhang, Y. Yan
doaj   +1 more source

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