Results 11 to 20 of about 30,575 (221)
Creatine/Creatinine Ratio and Myostatin as Biomarkers to Monitor Muscle Function in Duchenne Muscular Dystrophy Patients [PDF]
Journal of Cachexia, Sarcopenia and MuscleBackground Duchenne Muscular Dystrophy (DMD) is characterized by progressive muscle wasting leading to early loss of motor function. Functional tests monitor disease progression and serve as clinical trial endpoints but are influenced by maturation in ...
Chiara Degan +7 more
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Duchenne muscular dystrophy [PDF]
Nature Reviews Disease Primers, 2021 Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Duan, Dongsheng +4 more
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Frontiers in Pharmacology, 2022 Digital health technologies are transforming the way health outcomes are captured and measured. Digital biomarkers may provide more objective measurements than traditional approaches as they encompass continuous and longitudinal data collection and use ...
Elisa Ferrer-Mallol +7 more
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Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022 AbstractDuchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD.
Niki Armstrong +3 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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Protective role of γ ⁃ tocotrienol on muscle satellite cells of Duchenne muscular dystrophy in mice
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Objective To investigate the damage of skeletal muscle satellite cells in Duchenne muscular dystrophy (DMD) and the protective effect of γ⁃tocotrienol (GT3) on muscle satellite cells in DMD knockout mice.
YANG Shuo +5 more
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Molecules, 2021 Duchenne muscular dystrophy (DMD) is a progressive fatal neuromuscular disorder with no cure. Therapies to restore dystrophin deficiency have been approved in some jurisdictions but long-term effectiveness is yet to be established.
Keryn G. Woodman +3 more
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Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy
Arquivos de Neuro-Psiquiatria, 2023 In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed.
Alexandra Prufer de Queiroz Campos Araujo +21 more
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Duchenne muscular dystrophy [PDF]
Tidsskrift for Den norske legeforening, 2014 Duchenne muscular dystrophy is one of the most severe muscle diseases to affect children. In the last twenty years, treatments have been established that have significantly improved patients' quality of life and life expectancy. The purpose of this article is to outline the main features of the disease and its treatment, and to examine possible future ...
Ellen J, Annexstad +2 more
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The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies [PDF]
Vojnosanitetski Pregled, 2023 Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most ...
Maksić Jasmina +7 more
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