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Muscular Dystrophy, Duchenne

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Gene context of Muscular Dystrophy, Duchenne


Analytical, diagnostic and therapeutic context of Muscular Dystrophy, Duchenne


  1. The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. Brockdorff, N., Cross, G.S., Cavanna, J.S., Fisher, E.M., Lyon, M.F., Davies, K.E., Brown, S.D. Nature (1987) [Pubmed]
  2. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. McCabe, E.R., Towbin, J., Chamberlain, J., Baumbach, L., Witkowski, J., van Ommen, G.J., Koenig, M., Kunkel, L.M., Seltzer, W.K. J. Clin. Invest. (1989) [Pubmed]
  3. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Hoogerwaard, E.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., Leschot, N.J., Van Essen, A.J., Brunner, H.G., van der Wouw, P.A., Wilde, A.A., de Visser, M. Lancet (1999) [Pubmed]
  4. Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxia-induced loss of synaptic transmission. Mehler, M.F., Haas, K.Z., Kessler, J.A., Stanton, P.K. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  5. Familial occurrence of mitral valve prolapse in X-linked muscular dystrophy. Biddison, J.H., Dembo, D.H., Spalt, H., Hayes, M.G., LeDoux, C.W. Circulation (1979) [Pubmed]
  6. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Saito-Ohara, F., Fukuda, Y., Ito, M., Agarwala, K.L., Hayashi, M., Matsuo, M., Imoto, I., Yamakawa, K., Nakamura, Y., Inazawa, J. Am. J. Hum. Genet. (2002) [Pubmed]
  7. An examination of some factors influencing creatine kinase in the blood of patients with muscular dystrophy. Jackson, M.J., Round, J.M., Newham, D.J., Edwards, R.H. Muscle Nerve (1987) [Pubmed]
  8. Recombinant DNA strategies in genetic neurological diseases. Roses, A.D., Pericak-Vance, M.A., Yamaoka, L.H., Stubblefield, E., Stajich, J., Vance, J.M., Roses, M.J., Carter, D.B. Muscle Nerve (1983) [Pubmed]
  9. Pathobiochemical aspects of cytoskeleton components. Kunze, D., Rüstow, B. European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies. (1993) [Pubmed]
  10. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Blake, D.J., Weir, A., Newey, S.E., Davies, K.E. Physiol. Rev. (2002) [Pubmed]
  11. Is nebulin the defective gene product in Duchenne muscular dystrophy? Wood, D.S., Zeviani, M., Prelle, A., Bonilla, E., Salviati, G., Miranda, A.F., DiMauro, S., Rowland, L.P. N. Engl. J. Med. (1987) [Pubmed]
  12. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. van Ommen, G.J., Verkerk, J.M., Hofker, M.H., Monaco, A.P., Kunkel, L.M., Ray, P., Worton, R., Wieringa, B., Bakker, E., Pearson, P.L. Cell (1986) [Pubmed]
  13. Failure of fetal creatine phosphokinase as a diagnostic indicator of Duchenne muscular dystrophy. Golbus, M.S., Stephens, J.D., Mahoney, M.J., Hobbins, J.C., Haseltine, F.P., Caskey, C.T., Banker, B.Q. N. Engl. J. Med. (1979) [Pubmed]
  14. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Cox, G.A., Cole, N.M., Matsumura, K., Phelps, S.F., Hauschka, S.D., Campbell, K.P., Faulkner, J.A., Chamberlain, J.S. Nature (1993) [Pubmed]
  15. Decreased insulin receptors but normal glucose metabolism in Duchenne muscular dystrophy. DePirro, R., Lauro, R., Testa, I., Ferretti, I., De Martinis, C., Dellatonio, R. Science (1982) [Pubmed]
  16. Palmitoleic acid in erythrocytes from carriers of Duchenne muscular dystrophy. Rao, G.A., Siler, K., Larkin, E.C. Science (1978) [Pubmed]
  17. Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin. Matsumura, K., Burghes, A.H., Mora, M., Tomé, F.M., Morandi, L., Cornello, F., Leturcq, F., Jeanpierre, M., Kaplan, J.C., Reinert, P. J. Clin. Invest. (1994) [Pubmed]
  18. Allopurinol in Duchenne muscular dystrophy. Castro-Gago, M., Jiménez, J.F., Pombo, M., Tojo, R., Couselo, J.M., Peña, J. Lancet (1980) [Pubmed]
  19. X-linked recessive (Duchenne) muscular dystrophy and purine metabolism. Thomson, W.H., Smith, I. Lancet (1976) [Pubmed]
  20. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Forrest, S.M., Cross, G.S., Speer, A., Gardner-Medwin, D., Burn, J., Davies, K.E. Nature (1987) [Pubmed]
  21. An autosomal transcript in skeletal muscle with homology to dystrophin. Love, D.R., Hill, D.F., Dickson, G., Spurr, N.K., Byth, B.C., Marsden, R.F., Walsh, F.S., Edwards, Y.H., Davies, K.E. Nature (1989) [Pubmed]
  22. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. England, S.B., Nicholson, L.V., Johnson, M.A., Forrest, S.M., Love, D.R., Zubrzycka-Gaarn, E.E., Bulman, D.E., Harris, J.B., Davies, K.E. Nature (1990) [Pubmed]
  23. Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy. Emery, A.E. Nature (1977) [Pubmed]
  24. Fibroblast growth factor in the extracellular matrix of dystrophic (mdx) mouse muscle. DiMario, J., Buffinger, N., Yamada, S., Strohman, R.C. Science (1989) [Pubmed]
  25. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Ibraghimov-Beskrovnaya, O., Ervasti, J.M., Leveille, C.J., Slaughter, C.A., Sernett, S.W., Campbell, K.P. Nature (1992) [Pubmed]
  26. Dystrophin and related proteins. Tinsley, J.M., Blake, D.J., Pearce, M., Knight, A.E., Kendrick-Jones, J., Davies, K.E. Curr. Opin. Genet. Dev. (1993) [Pubmed]
  27. Dystrophin production induced by myoblast transfer therapy in Duchenne muscular dystrophy. Law, P.K., Bertorini, T.E., Goodwin, T.G., Chen, M., Fang, Q.W., Li, H.J., Kirby, D.S., Florendo, J.A., Herrod, H.G., Golden, G.S. Lancet (1990) [Pubmed]
  28. Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. Ohlendieck, K., Campbell, K.P. J. Cell Biol. (1991) [Pubmed]
  29. Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene. Monckton, G., Zatz, M., Mion, C.S., Marusyk, H. Am. J. Hum. Genet. (1984) [Pubmed]
  30. Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. Heilig, R., Lemaire, C., Mandel, J.L., Dandolo, L., Amar, L., Avner, P. Nature (1987) [Pubmed]
  31. Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase. Li, X.J., Sharp, A.H., Li, S.H., Dawson, T.M., Snyder, S.H., Ross, C.A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  32. The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. Keep, N.H., Norwood, F.L., Moores, C.A., Winder, S.J., Kendrick-Jones, J. J. Mol. Biol. (1999) [Pubmed]
  33. Failure of serotonin inhibitor to effect nocturnal GH and prolactin secretion in patients with Duchenne muscular dystrophy. Marlarkey, W.B., Mendall, J.R. J. Clin. Endocrinol. Metab. (1976) [Pubmed]
  34. Molecular, genetic and physiological characterisation of dystrobrevin-like (dyb-1) mutants of Caenorhabditis elegans. Gieseler, K., Mariol, M.C., Bessou, C., Migaud, M., Franks, C.J., Holden-Dye, L., Ségalat, L. J. Mol. Biol. (2001) [Pubmed]
  35. Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Hurko, O., Hoffman, E.P., McKee, L., Johns, D.R., Kunkel, L.M. Am. J. Hum. Genet. (1989) [Pubmed]
  36. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Richards, C.S., Watkins, S.C., Hoffman, E.P., Schneider, N.R., Milsark, I.W., Katz, K.S., Cook, J.D., Kunkel, L.M., Cortada, J.M. Am. J. Hum. Genet. (1990) [Pubmed]
  37. Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Phelps, S.F., Hauser, M.A., Cole, N.M., Rafael, J.A., Hinkle, R.T., Faulkner, J.A., Chamberlain, J.S. Hum. Mol. Genet. (1995) [Pubmed]
  38. Quadriceps myopathy: forme fruste of Becker muscular dystrophy. Sunohara, N., Arahata, K., Hoffman, E.P., Yamada, H., Nishimiya, J., Arikawa, E., Kaido, M., Nonaka, I., Sugita, H. Ann. Neurol. (1990) [Pubmed]
  39. Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique. Tuffery, S., Moine, P., Demaille, J., Claustres, M. Hum. Mutat. (1993) [Pubmed]
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