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MeSH Review

Muscular Dystrophies

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Disease relevance of Muscular Dystrophies


Psychiatry related information on Muscular Dystrophies


High impact information on Muscular Dystrophies


Chemical compound and disease context of Muscular Dystrophies


Biological context of Muscular Dystrophies


Anatomical context of Muscular Dystrophies


Gene context of Muscular Dystrophies


Analytical, diagnostic and therapeutic context of Muscular Dystrophies


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  4. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Smith, F.J., Eady, R.A., Leigh, I.M., McMillan, J.R., Rugg, E.L., Kelsell, D.P., Bryant, S.P., Spurr, N.K., Geddes, J.F., Kirtschig, G., Milana, G., de Bono, A.G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W.H., Lane, E.B. Nat. Genet. (1996) [Pubmed]
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  6. A single trinucleotide, 5'AGC3'/5'GCT3', of the triplet-repeat disease genes confers metal ion-induced non-B DNA structure. Kohwi, Y., Wang, H., Kohwi-Shigematsu, T. Nucleic Acids Res. (1993) [Pubmed]
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  9. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Kanagawa, M., Saito, F., Kunz, S., Yoshida-Moriguchi, T., Barresi, R., Kobayashi, Y.M., Muschler, J., Dumanski, J.P., Michele, D.E., Oldstone, M.B., Campbell, K.P. Cell (2004) [Pubmed]
  10. Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cohn, R.D., Henry, M.D., Michele, D.E., Barresi, R., Saito, F., Moore, S.A., Flanagan, J.D., Skwarchuk, M.W., Robbins, M.E., Mendell, J.R., Williamson, R.A., Campbell, K.P. Cell (2002) [Pubmed]
  11. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S.Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. Nat. Genet. (2001) [Pubmed]
  12. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Shackleton, S., Lloyd, D.J., Jackson, S.N., Evans, R., Niermeijer, M.F., Singh, B.M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P.N., Gregory, S., O'Rahilly, S., Trembath, R.C. Nat. Genet. (2000) [Pubmed]
  13. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. Mendell, J.R., Moxley, R.T., Griggs, R.C., Brooke, M.H., Fenichel, G.M., Miller, J.P., King, W., Signore, L., Pandya, S., Florence, J. N. Engl. J. Med. (1989) [Pubmed]
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  15. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Matsumura, K., Tomé, F.M., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.C., Fardeau, M., Campbell, K.P. Nature (1992) [Pubmed]
  16. Postponement of symptoms of hereditary muscular dystrophy in chickens by 5-hydroxytryptamine antagonists. Barnard, E.A., Bhargava, A.K., Hudecki, M.S. Nature (1976) [Pubmed]
  17. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Barresi, R., Michele, D.E., Kanagawa, M., Harper, H.A., Dovico, S.A., Satz, J.S., Moore, S.A., Zhang, W., Schachter, H., Dumanski, J.P., Cohn, R.D., Nishino, I., Campbell, K.P. Nat. Med. (2004) [Pubmed]
  18. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Grewal, P.K., Holzfeind, P.J., Bittner, R.E., Hewitt, J.E. Nat. Genet. (2001) [Pubmed]
  19. Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy. Sancho, S., Mongini, T., Tanji, K., Tapscott, S.J., Walker, W.F., Weintraub, H., Miller, A.D., Miranda, A.F. N. Engl. J. Med. (1993) [Pubmed]
  20. A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Holmes, S.E., Dombroski, B.A., Krebs, C.M., Boehm, C.D., Kazazian, H.H. Nat. Genet. (1994) [Pubmed]
  21. Role of alpha-dystroglycan as a Schwann cell receptor for Mycobacterium leprae. Rambukkana, A., Yamada, H., Zanazzi, G., Mathus, T., Salzer, J.L., Yurchenco, P.D., Campbell, K.P., Fischetti, V.A. Science (1998) [Pubmed]
  22. Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses. Côté, P.D., Moukhles, H., Lindenbaum, M., Carbonetto, S. Nat. Genet. (1999) [Pubmed]
  23. Gastric hypomotility in Duchenne's muscular dystrophy. Barohn, R.J., Levine, E.J., Olson, J.O., Mendell, J.R. N. Engl. J. Med. (1988) [Pubmed]
  24. Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy. Renaud, J.F., Desnuelle, C., Schmid-Antomarchi, H., Hugues, M., Serratrice, G., Lazdunski, M. Nature (1986) [Pubmed]
  25. FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. Beggs, H.E., Schahin-Reed, D., Zang, K., Goebbels, S., Nave, K.A., Gorski, J., Jones, K.R., Sretavan, D., Reichardt, L.F. Neuron (2003) [Pubmed]
  26. Fusion of bone marrow-derived stem cells with striated muscle may not be sufficient to activate muscle genes. Cossu, G. J. Clin. Invest. (2004) [Pubmed]
  27. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Toda, T., Segawa, M., Nomura, Y., Nonaka, I., Masuda, K., Ishihara, T., Sakai, M., Tomita, I., Origuchi, Y., Suzuki M [corrected to Sakai, M. Nat. Genet. (1993) [Pubmed]
  28. Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Xu, H., Wu, X.R., Wewer, U.M., Engvall, E. Nat. Genet. (1994) [Pubmed]
  29. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Helbling-Leclerc, A., Zhang, X., Topaloglu, H., Cruaud, C., Tesson, F., Weissenbach, J., Tomé, F.M., Schwartz, K., Fardeau, M., Tryggvason, K. Nat. Genet. (1995) [Pubmed]
  30. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Bönnemann, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P. Nat. Genet. (1995) [Pubmed]
  31. Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Tinsley, J., Deconinck, N., Fisher, R., Kahn, D., Phelps, S., Gillis, J.M., Davies, K. Nat. Med. (1998) [Pubmed]
  32. Serum antibodies to the deleted dystrophin sequence after cardiac transplantation in a patient with Becker's muscular dystrophy. Bittner, R.E., Shorny, S., Streubel, B., Hübner, C., Voit, T., Kress, W. N. Engl. J. Med. (1995) [Pubmed]
  33. Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle. Torrente, Y., Belicchi, M., Sampaolesi, M., Pisati, F., Meregalli, M., D'Antona, G., Tonlorenzi, R., Porretti, L., Gavina, M., Mamchaoui, K., Pellegrino, M.A., Furling, D., Mouly, V., Butler-Browne, G.S., Bottinelli, R., Cossu, G., Bresolin, N. J. Clin. Invest. (2004) [Pubmed]
  34. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Durbeej, M., Campbell, K.P. Curr. Opin. Genet. Dev. (2002) [Pubmed]
  35. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. Nguyen, T.M., Morris, G.E. Am. J. Hum. Genet. (1993) [Pubmed]
  36. Functional correction of adult mdx mouse muscle using gutted adenoviral vectors expressing full-length dystrophin. DelloRusso, C., Scott, J.M., Hartigan-O'Connor, D., Salvatori, G., Barjot, C., Robinson, A.S., Crawford, R.W., Brooks, S.V., Chamberlain, J.S. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
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