نتایج جستجو برای: duchenne
تعداد نتایج: 8037 فیلتر نتایج به سال:
A class of recessive lethal zebrafish mutations has been identified in which normal skeletal muscle differentiation is followed by a tissue-specific degeneration that is reminiscent of the human muscular dystrophies. Here, we show that one of these mutations, sapje, disrupts the zebrafish orthologue of the X-linked human Duchenne muscular dystrophy (DMD) gene. Mutations in this locus cause Duch...
The personality trait of extraversion has been linked to problematic drinking patterns. Researchers have long hypothesized that such associations are attributable to increased alcohol-reward sensitivity among extraverted individuals, and surveys suggest that individuals high in extraversion gain greater mood enhancement from alcohol than those low in extraversion. Surprisingly, however, alcohol...
OBJECTIVE To quantitate prolongation of survival for patients with Duchenne muscular dystrophy with the use of noninvasive intermittent positive-pressure ventilation (IPPV) with and without access to a protocol involving mechanically assisted coughing. DESIGN In this retrospective review of all patients with Duchenne muscular dystrophy visiting a neuromuscular disease clinic, patients were tr...
[Purpose] In Duchenne muscular dystrophy, it increases risks of difficulties of expectoration of secretion, asphyxia, aspiration pneumonia because of decreased cough function. The aim of this study is to prove that manually assisted coughing or mechanical insufflation-exsufflation prevents pulmonary complication and contribute to continue oral intake safely and continue rate of oral intake in D...
OBJECTIVE To provide evidence for quantitative magnetic resonance (qMR) biomarkers in Duchenne muscular dystrophy by investigating the relationship between qMR measures of lower extremity muscle pathology and functional endpoints in a large ambulatory cohort using a multicenter study design. METHODS MR spectroscopy and quantitative imaging were implemented to measure intramuscular fat fractio...
1. Large-scale mutagenic screens of the zebrafish genome have identified a number of different classes of mutations that disrupt skeletal muscle formation. Of particular interest and relevance to human health is a class of recessive lethal mutations in which muscle differentiation occurs normally, but is followed by tissue-specific degeneration reminiscent of human muscular dystrophies. 2. We h...
A 230 kb genomic region from the Duchenne muscular dystrophy gene has been cloned in a cosmid walk, using an improved vector and by screening the same unamplified library for all steps. The region cloned surrounds the translocation breakpoint characterized by Worton et al and Ray et al, and overlaps by 70 kb the Pert region cloned by Monaco et al. We have identified a region of strong sequence ...
Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are needed in order to objectively monitor muscle condition and response to treatment targeting metabolic abnormalities. We used a metabolomic approach ...
Duchenne Muscular Dystrophy (DMD) is a devastating inherited disease of children with no effective therapies. Here I discuss the landscape for new treatments and the history, current status and prospects for our work developing recombinant biglycan as DMD therapy.
Using a number of different methods, it is confirmed that approximately one third of all cases of X-linked Duchenne muscular dystrophy are new mutants, the remainder being sons of carriers.
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