Results 11 to 20 of about 42,113 (251)
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.
Dongsheng Duan +4 more
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The achievement of Duchenne. [PDF]
Proceedings of the Royal Society of Medicine, 1973 E. D. R. Campbell
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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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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
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Frontiers in Psychology, 2023 IntroductionHuman cooperativeness is an important personality trait. However, the mechanism through which people cooperate remains unclear. Previous research suggests that one of the proposed functions of smiling is to advertise altruistic dispositions ...
Xiaoqi Deng +3 more
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Health and Quality of Life Outcomes, 2022 Introduction Duchenne muscular dystrophy is a rare, progressive, life-limiting genetic neuromuscular condition that significantly impacts the quality of life of informal caregivers. Carer quality of life is measured using heterogeneous self-report scales,
Jill Carlton +2 more
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Duchenne muscular dystrophy [PDF]
BMJ Case Reports, 2014 A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in a second-degree cousin and also had a history of delayed motor developmental milestones since birth ...
Rajeev Chauhan +3 more
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Exhibition: Duchenne and Gachet [PDF]
BMJ, 1999 “Duchenne de Boulogne: la mecanique des passions” is at the Ecole nationale superieure des Beaux-arts, Paris, until 4 April, and “Un ami de Cezanne et Van Gogh: le docteur Gachet” is at the Grand Palais, Paris, until 26 April Guillaume Duchenne, born in Boulogne in 1807, studied medicine in Paris and came under the spell of Laennec, Dupuytren, and ...
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Al-Azhar Assiut Medical Journal, 2019 Background Patients with Duchenne muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) may have asymptomatic cardiac involvement for years before the development of dilated cardiomyopathy and even showed normal conventional echocardiographic ...
Shaimaa A Habib, Mohie El Din T Mohamed
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Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang +8 more
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