Results 1 to 10 of about 59,273 (173)
Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy–Associated Cardiomyopathy [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2015 Background Duchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin‐associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Michelle S. Parvatiyar +6 more
doaj +2 more sources
Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models [PDF]
Molecular Therapy: Nucleic Acids, 2019 Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy +6 more
doaj +3 more sources
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
+8 more sources
Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]
, 2018 Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus +63 more
core +16 more sources
Frontiers in Genetics, 2023 Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez +19 more
doaj +1 more source
Duchenne muscular dystrophy [PDF]
BMJ, 2020 ### What you need to know Duchenne muscular dystrophy (DMD) is a progressive and disabling neuromuscular condition that is often diagnosed late.1 In the UK the mean age of diagnosis has remained fairly static over the past 30 years, currently around 4.3 years of age.2 On average it takes 1.6 years from first parental concern to diagnosis of DMD,2 by ...
Hannah, Fox +3 more
openaire +3 more sources
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
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin
Scientific Reports, 2021 Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop +10 more
doaj +1 more source
Children, 2021 Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed ...
Eun-Woo Park +5 more
doaj +1 more source
The Egyptian Heart Journal, 2021 Background With the continuous improvement of the respiratory care of Duchenne muscular dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the leading causes of morbidity and mortality.
Mahmoud Shehta +4 more
doaj +1 more source