Corpus ID: 80521594

The Therapeutic Implications of Muscular Dystrophy Genomics

@inproceedings{Zarros2017TheTI,
  title={The Therapeutic Implications of Muscular Dystrophy Genomics},
  author={Apostolos Zarros and C. Overy and K. Mikami and S. Sturdy and E. Tansey},
  year={2017}
}
3 Citations
Bakker, Bert: transcript of a video interview (27-Oct-2015)
TLDR
The current interview has been funded by the Wellcome Trust Strategic Award entitled “Makers of modern biomedicine: testimonies and legacy” (2012-2017; awarded to Professor Tilli Tansey). Expand
Dubowitz, Victor: transcript of a video interview (27-Sep-2016)
TLDR
The current interview has been funded by the Wellcome Trust Strategic Award entitled “Makers of modern biomedicine: testimonies and legacy” (2012-2017; awarded to Professor Tilli Tansey). Expand
Dubowitz, Victor: transcript of an audio interview (27-Sep-2016)
TLDR
The current interview has been funded by the Wellcome Trust Strategic Award entitled “Makers of modern biomedicine: testimonies and legacy” (2012-2017; awarded to Professor Tilli Tansey). Expand

References

SHOWING 1-10 OF 145 REFERENCES
Myopathic changes in a muscular dystrophy carrier
  • V. Dubowitz
  • Medicine
  • Journal of neurology, neurosurgery, and psychiatry
  • 1963
This investigation of a 34-year-old female carrier of muscular dystrophy was prompted by the observation that the circumference of her left calf was 1 in. larger than that of the right (Fig. 1). SheExpand
Setsuro Ebashi (1922–2006)
  • M. Otsuka
  • Medicine
  • Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
  • 2007
TLDR
By fully utilizing an ultracentrifuge and calcium isotope, Ebashi discovered that the activity of the relaxing factor was due to the removal of calcium ion, and furthermore that an extremely low concentration of calcium ions directly acts on muscle proteins to induce a contractile change. Expand
Cloning of the DMD Gene
TLDR
I must start by thanking Jane Gitschier for that very kind and thorough introduction, and I have tears in my eyes. Expand
Duchenne Muscular Dystrophy: Carrier detection and prenatal diagnosis by DNA-analysis: new mutation and mosaicism
  • 1989
CLINICAL MANIFESTATIONS IN TWO CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY
The mdx mouse model as a surrogate for Duchenne muscular dystrophy
TLDR
This review focuses on the example of skeletal muscle disease, in particular muscular dystrophy, to identify some of the principal classes of obstacles to translation of data from mouse to humans. Expand
Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.
In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene wereExpand
Effect of genetic background on the dystrophic phenotype in mdx mice.
TLDR
The new D2-mdx model with an earlier onset and more pronounced dystrophy phenotype may be useful for evaluating therapies that target cardiac and skeletal muscle function in dystrophin-deficient mice, and is one of the few instances of cross-species genetic modifiers of monogenic traits. Expand
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers
TLDR
Although current naked AONs do not enter the heart or cross the blood-brain barrier to any substantial extent, it is shown that systemic delivery of tcDNA-AONs promotes a high degree of rescue of dystrophin expression in skeletal muscles, the heart and, to a lesser extent, the brain. Expand
...
1
2
3
4
5
...