Results 21 to 30 of about 114,439 (345)
Recent Trends in Antisense Therapies for Duchenne Muscular Dystrophy
Pharmaceutics, 2023 Duchenne muscular dystrophy (DMD) is a debilitating and fatal genetic disease affecting 1/5000 boys globally, characterized by progressive muscle breakdown and eventual death, with an average lifespan in the mid–late twenties.
H. Wilton-Clark, T. Yokota
semanticscholar +1 more source
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
doaj +1 more source
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
doaj +1 more source
Journal of the American Medical Association (JAMA), 2022 Importance Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen and dosage.
M. Guglieri +62 more
semanticscholar +1 more source
JAMA Neurology, 2022 This randomized clinical trial investigates the efficacy and safety of partial receptor agonist vamorolone compared with placebo and prednisone in boys with Duchenne muscular dystrophy.
M. Guglieri +45 more
semanticscholar +1 more source
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
doaj +1 more source
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
semanticscholar +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
semanticscholar +1 more source