نتایج جستجو برای: duchenne muscular dystrophy

تعداد نتایج: 53024  

Journal: :Journal of Anesthesia & Clinical Research 2015

2015
Gustavo Torres de Souza Rafaella de Souza Salomão Zanette Danielle Luciana Aurora Soares do Amaral Francisco Carlos da Guia Claudinéia Pereira Maranduba Camila Maurmann de Souza Ernesto da Silveira Goulart Guimarães João Vitor Paes Rettore Natana Chaves Rabelo Antônio Márcio Resende do Carmo Fernando de Sá Silva Carlos Magno da Costa Maranduba

The satellite cells are long regarded as heterogeneous cell population, which is intimately linked to the processes of muscular recovery. The heterogeneous cell population may be classified by specific markers. In spite of the significant amount of variation amongst the satellite cell populations, it seems that their activity is tightly bound to the paired box 7 transcription factor expression,...

Journal: :Journal of medical genetics 1982
R Skinner A E Emery G Scheuerbrandt J Syme

During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This stud...

Journal: :Journal of medical genetics 1982
R F Gaines S M Pueschel E A Sassaman J L Driscoll

In order to evaluate the effect of exercise on serum creatine kinase levels, blood samples were obtained from 17 normal females and 12 Duchenne muscular dystrophy carriers before and 9 hours after moderately strenuous exercise. The results revealed that after exercise serum creatine kinase levels may be better indicators of carrier status than resting levels. The mean serum creatine kinase leve...

Journal: :Clinical science 1982
R J Shuttlewood J R Griffiths

1. AMP, ADP, ATP, IMP, GDP, GTP and adenylosuccinate have been measured by high pressure liquid chromatography in three types of animal muscular dystrophy and in a human patient with Duchenne muscular dystrophy. 2. Abnormalities in nucleotide content varied from one dystrophy to another. 3. In each case, however, the ratio [total adenine nucleotide + IMP]/[total guanine nucleotides] was lower i...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1984
E Fingerman J Campisi A B Pardee

Normal fibroblasts in medium containing 0.02 mM CaCl2 arrested growth within 24 hr, whereas Duchenne muscular dystrophy fibroblasts continued to grow for 5 days, albeit at 40% of their rate in standard medium (1.8 mM CaCl2). Moreover, Duchenne cells in calcium-deficient medium showed an enhanced rate of protein synthesis (60% over the rate in standard medium), whereas normal cells were unaffect...

Journal: :The FEBS journal 2013
Jessica R Terrill Hannah G Radley-Crabb Tomohito Iwasaki Frances A Lemckert Peter G Arthur Miranda D Grounds

The muscular dystrophies comprise more than 30 clinical disorders that are characterized by progressive skeletal muscle wasting and degeneration. Although the genetic basis for many of these disorders has been identified, the exact mechanism for pathogenesis generally remains unknown. It is considered that disturbed levels of reactive oxygen species (ROS) contribute to the pathology of many mus...

Journal: :Archives of neurology 2007
Louise R Rodino-Klapac Louis G Chicoine Brian K Kaspar Jerry R Mendell

Duchenne muscular dystrophy is a debilitating X-linked disease with limited treatment options. We examined the possibility of moving forward with gene therapy, an approach that demonstrates promise for treating Duchenne muscular dystrophy. Gene therapy is not limited to replacement of defective genes but also includes strategies using surrogate genes with alternative but effective means of impr...

2012
Sue Fletcher Carl F. Adkin Penny Meloni Brenda Wong Francesco Muntoni Ryszard Kole Clayton Fragall Kane Greer Russell Johnsen Steve D. Wilton

Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy. Antisense oligomer-induced exon skipping can modify dystrophin gene expression so that a disease-associated dystrophin pre-mRNA is processed into a Becker muscula...

Journal: :Investigative ophthalmology & visual science 1995
D A Pillers R G Weleber W R Woodward D G Green V M Chapman P N Ray

PURPOSE To identify an animal model for the abnormal scotopic electroretinogram found in a majority of Duchenne and Becker muscular dystrophy patients. METHODS Ganzfeld electroretinograms were recorded in dark-adapted normal C57BL/6 mice, and two strains of mice with different X-linked muscular dystrophy mutations (mdx and mdxCv3). Responses for the right eye were averaged and the amplitudes ...

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