Acknowledgmenls.—This work has been made possible by the generous support of the Nuffield Foundation and of the National Foundation for Neuromuscular Diseases of New York. I would thank Dr G. S. Dawes and Professor P. M. Daniel for their help at many points, and Dr N. T. J. Bailey...
Examples of these are lysosomal storage disease, Chediak-Higashi syndrome and progressive rod cone degeneration and rod cone dysplasia. Research of the latter two hereditary diseases, both described in the Abyssinian breed of cat, have made affected individuals important animal models for research into...
http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?db=m&form=6&Dopt=r&uid=entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9802270&dopt=AbstractGoogle Scholar 15. Goodman RM, Motulsky AG. Genetic Diseases Among Ashkenazi Jews. New York, NY: Raven Press; 1979. 16. McKusick VA,...
Diseases like ulcerous colitis, Chron’s disease, polyposis, colon/rectal/ovarian/endometrium/breast cancer, and diabetes mellitus give a 30–50% risk of developing CRC. Sign in to download hi-res image Fig. 1. List of hereditary factors as well as modifiable and non-modifiable risk ...
Evaluation of the validity and utility of genetic testing for rare diseases. Adv Exp Med Biol 2010;686:115–131. 2. Wordsworth S, Leal J, Blair E, et al. DNA testing for hypertrophic cardio- myopathy: a cost-effectiveness model. Eur Heart J 2010;31:926 –935. 3. Christiaans I, ...
German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany Hans Zempel & Eva-Maria Mandelkow CAESAR Research Center, Bonn, Germany Eva-Maria Mandelkow MPI for Metabolism Research, Hamburg Outstation, c/o DESY, Hamburg, Germany Hans Zempel & Eva-Maria Mandelkow Corresponding authors Correspon...
Open AccessArticle by Samir Kumar-Singh 1, 2, 3 1 Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen - CDE, Universiteitsplein 1, B-2610, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born Bunge, University of Antwerp, Antwe...
In recent years we have seen the development and commercialization of many gene-based therapies aimed at changing the natural history of other neuromuscular diseases, providing new hope for the development of specific treatments for hereditary neuropathies, as well. 3. The Importance of Animal Models...
Glaucoma is a group of eye diseases that develop due to elevated intraocular pressure (IOP) within the eye. Glaucomais a disease of the major nerve of vision, called the optic nerve. The optic nerve receives light-generated nerve impulses from the retina and transmits these to the brain, wh...
Currently, the treatment of AS is symptomatic therapy with a rennin-angiotensin (RAS) inhibitor, as in other chronic kidney diseases. Patients eventually progress to end-stage renal failure without exception, and are forced to undergo dialysis or kidney transplantation. Cyclosporin A (CsA) is a ...