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European Journal of Paediatric Neurology, 2017
Objective: Duchenne muscular dystrophy (DMD) is a X-linked recessive disease caused by mutations in dystrophin gene and is characterized by progressive muscle degeneration and weakness resulting in poor disease outcome. The disease primarily affects boys. Females are usually only asymptomatic carriers of mutations.
Sekelj Fureš, Jadranka +1 more
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Objective: Duchenne muscular dystrophy (DMD) is a X-linked recessive disease caused by mutations in dystrophin gene and is characterized by progressive muscle degeneration and weakness resulting in poor disease outcome. The disease primarily affects boys. Females are usually only asymptomatic carriers of mutations.
Sekelj Fureš, Jadranka +1 more
openaire +2 more sources
Current Opinion in Genetics & Development, 1991
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
J. Wicki, J.T. Seto, J.S. Chamberlain
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Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
J. Wicki, J.T. Seto, J.S. Chamberlain
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Medical Journal of Australia, 1968
G. B. A. Duchenne's description of pseudohypertrophic muscular paralysis contains not only the first clear account of this disease, but also the first report of a practical instrument of muscle biopsy. Duchenne (1806-1875) was a French neurologist who was led to a careful study of neuromuscular diseases through his interest in the effects of ...
Irwin A. Brody, Robert H. Wilkins
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G. B. A. Duchenne's description of pseudohypertrophic muscular paralysis contains not only the first clear account of this disease, but also the first report of a practical instrument of muscle biopsy. Duchenne (1806-1875) was a French neurologist who was led to a careful study of neuromuscular diseases through his interest in the effects of ...
Irwin A. Brody, Robert H. Wilkins
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Neurology India, 2008
AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Eppie M. Yiu +2 more
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AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Eppie M. Yiu +2 more
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Perceptions of Duchenne and non-Duchenne smiles: A meta-analysis
Cognition and Emotion, 2015A meta-analysis was conducted to compare perceptions of Duchenne smiles, smiles that include activation of the cheek raiser muscle that creates crow's feet around the eyes, with perceptions of non-Duchenne smiles, smiles without cheek raiser activation.
Sarah D. Gunnery, Mollie A. Ruben
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Facial and emotional reactions to Duchenne and non-Duchenne smiles
International Journal of Psychophysiology, 1998The purpose of the study was to investigate facial and emotional reactions while viewing two different types of smiles and the relation of emotional empathy to these reactions. Facial EMG was recorded from the orbicularis oculi and zygomaticus major muscle regions while subjects individually watched two blocks of stimuli.
Veikko Surakka, Jari K. Hietanen
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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 ...
Luke Millington +3 more
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### 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 ...
Luke Millington +3 more
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Current Treatment Options in Neurology, 2001
Duchenne muscular dystrophy (DMD) is not treatable; there is no cure. More than a decade ago, randomized trials demonstrated that oral steroid therapy was of benefit to DMD patients by prolonging ambulation. Although few significant side effects were reported, study patients were followed for 18 months or less. However, when treating DMD with steroids,
Susan T. Iannaccone, Zohair Nanjiani
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Duchenne muscular dystrophy (DMD) is not treatable; there is no cure. More than a decade ago, randomized trials demonstrated that oral steroid therapy was of benefit to DMD patients by prolonging ambulation. Although few significant side effects were reported, study patients were followed for 18 months or less. However, when treating DMD with steroids,
Susan T. Iannaccone, Zohair Nanjiani
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1995
Duchenne and Becker muscular dystrophy are X-linked muscle-wasting disorders that arise from mutations in the gene coding for dystrophin. The incidence of Duchenne muscular dystrophy (DMD) is approximately 1 in 3500 live male births, one-third of which are sporadic with no previous family history. In the absence of dystrophin, patients with DMD exhibit
Susan C. Brown, George Dickson
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Duchenne and Becker muscular dystrophy are X-linked muscle-wasting disorders that arise from mutations in the gene coding for dystrophin. The incidence of Duchenne muscular dystrophy (DMD) is approximately 1 in 3500 live male births, one-third of which are sporadic with no previous family history. In the absence of dystrophin, patients with DMD exhibit
Susan C. Brown, George Dickson
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Reproduction in Duchenne dystrophy [PDF]
Neurology, 1978 A man with Duchenne muscular dystrophy fathered two living children. He was 1 of 10 affected males in 5 generations. Clinical and genetic patterns, muscle biopsies, autopsy results, and serum enzymes were all compatible with the diagnosis of Duchenne muscular dystrophy.
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