Results 211 to 220 of about 60,007 (250)
Some of the next articles are maybe not open access.
Human Genetics, 1977
By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of ...
Danieli GA +3 more
openaire +2 more sources
By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of ...
Danieli GA +3 more
openaire +2 more sources
2004
Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that
openaire +2 more sources
Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that
openaire +2 more sources
PREDNISONE IN DUCHENNE MUSCULAR DYSTROPHY
The Lancet, 1974Abstract Fourteen patients with typical Duchenne muscular dystrophy were treated with prednisone for up to 28 months. Thirteen patients showed improvement in motor power and muscular activities while on prednisone. In eight of these, the improvement has been maintained for up to 28 months, while in five others deterioration has occurred while on ...
D B, Drachman, K V, Toyka, E, Myer
openaire +2 more sources
On the Pathogenesis of Duchenne Muscular Dystrophy*
Developmental Medicine & Child Neurology, 1975SUMMARYThe relative merits of the three presently most active hypotheses (vascular, neurogenic, and myogenic) concerning the pathogenesis of Duchenne muscular dystrophy are analysed and discussed and the literature is comprehensively reviewed.ZUSAMMENFASSUNGZur Pathogenese der Duchenne'schen MuskeldystrophieDie entsprechenden Hauptpunkte der drei ...
openaire +2 more sources
Reinnervation in duchenne muscular dystrophy
Muscle & Nerve, 1983AbstractMotor neuron abnormalities have been implicated in the pathogenesis of Duchenne muscular dystrophy. Evidence concerning the effect of injury on motor neurons of human Duchenne muscular dystrophy (DMD) is lacking. We report a DMD patient having, in addition, an obstetric paresis on his left arm.
A, Dubrovsky, A L, Taratuto
openaire +2 more sources
Cardioprotection for Duchenne’s muscular dystrophy
American Heart Journal, 1999To explore the use of neuroendocrine monitoring for more timely diagnosis of dilated cardiomyopathy (DCM) in Duchenne's muscular dystrophy (DMD) and to determine the effects of angiotensin-converting enzyme inhibitors (ACEI) and beta-blockers on neuroendocrine levels, left ventricular diastolic diameter (LVDd), ejection fraction, and mortality rate on ...
Y, Ishikawa, J R, Bach, R, Minami
openaire +2 more sources
Treatment of Duchenne's Muscular Dystrophy
JAMA: The Journal of the American Medical Association, 1982To the Editor.— The recent article by Crisp and colleagues (1982;247:478) and the accompanying editorial by Shelborne (1982;247:496), both of which emphasize the value of early diagnosis in Duchenne's muscular dystrophy (DMD), are highly commendable and may help to prevent needless tragedy and suffering.
openaire +2 more sources
Cardiomyopathy of Duchenne muscular dystrophy
Pediatric Cardiology, 1988A total of 18 male patients with Duchenne muscular dystrophy (DMD), aged 8-29 years (mean, 15.7 years), were prospectively studied to assess the cardiomyopathy associated with DMD, using clinical parameters and noninvasive cardiovascular investigations: electrocardiogram (ECG), Holter monitoring, and echocardiography.
L, D'Orsogna, J P, O'Shea, G, Miller
openaire +2 more sources
Duchenne muscular dystrophy and epilepsy
Neuromuscular Disorders, 2013Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8).
Pane M +16 more
openaire +2 more sources
Mutations in Duchenne Muscular Dystrophy
Archives of Neurology, 1988The nature of the mutations in Duchenne muscular dystrophy (DMD) has implications not only for genetic science but for prevention and patient care. Everyone agrees on this. The crux of the controversy is whether the mutation rate is equal among males and females.
openaire +2 more sources