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MeSH Review

Neuromuscular Diseases

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Disease relevance of Neuromuscular Diseases


Psychiatry related information on Neuromuscular Diseases

  • The murine and human genes for the L1 neural adhesion molecule were shown to lie on conserved regions of the X chromosome to which genes responsible for several neuromuscular diseases have been mapped and which are adjacent to the fragile site (FRAXA) associated with mental retardation [6].

High impact information on Neuromuscular Diseases


Chemical compound and disease context of Neuromuscular Diseases


Biological context of Neuromuscular Diseases


Anatomical context of Neuromuscular Diseases


Gene context of Neuromuscular Diseases


Analytical, diagnostic and therapeutic context of Neuromuscular Diseases


  1. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barceló, J., O'Hoy, K. Science (1992) [Pubmed]
  2. Heregulin ameliorates the dystrophic phenotype in mdx mice. Krag, T.O., Bogdanovich, S., Jensen, C.J., Fischer, M.D., Hansen-Schwartz, J., Javazon, E.H., Flake, A.W., Edvinsson, L., Khurana, T.S. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  3. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? Masny, P.S., Bengtsson, U., Chung, S.A., Martin, J.H., van Engelen, B., van der Maarel, S.M., Winokur, S.T. Hum. Mol. Genet. (2004) [Pubmed]
  4. Antibody to human and simian retrovirus, HTLV-I, HTLV-II, HIV, STLV-III, and SRV-I not increased in patients with multiple sclerosis. Madden, D.L., Mundon, F.K., Tzan, N.R., Fuccillo, D.A., Dalakas, M.C., Calabrese, V., Elizan, T.S., Román, G.C., Sever, J.L. Ann. Neurol. (1988) [Pubmed]
  5. Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome. Nelson, I., Degoul, F., Obermaier-Kusser, B., Romero, N., Borrone, C., Marsac, C., Vayssiere, J.L., Gerbitz, K., Fardeau, M., Ponsot, G. Nucleic Acids Res. (1989) [Pubmed]
  6. The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man. Djabali, M., Mattei, M.G., Nguyen, C., Roux, D., Demengeot, J., Denizot, F., Moos, M., Schachner, M., Goridis, C., Jordan, B.R. Genomics (1990) [Pubmed]
  7. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Evgrafov, O.V., Mersiyanova, I., Irobi, J., Van Den Bosch, L., Dierick, I., Leung, C.L., Schagina, O., Verpoorten, N., Van Impe, K., Fedotov, V., Dadali, E., Auer-Grumbach, M., Windpassinger, C., Wagner, K., Mitrovic, Z., Hilton-Jones, D., Talbot, K., Martin, J.J., Vasserman, N., Tverskaya, S., Polyakov, A., Liem, R.K., Gettemans, J., Robberecht, W., De Jonghe, P., Timmerman, V. Nat. Genet. (2004) [Pubmed]
  8. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Klesert, T.R., Otten, A.D., Bird, T.D., Tapscott, S.J. Nat. Genet. (1997) [Pubmed]
  9. Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Saito, F., Moore, S.A., Barresi, R., Henry, M.D., Messing, A., Ross-Barta, S.E., Cohn, R.D., Williamson, R.A., Sluka, K.A., Sherman, D.L., Brophy, P.J., Schmelzer, J.D., Low, P.A., Wrabetz, L., Feltri, M.L., Campbell, K.P. Neuron (2003) [Pubmed]
  10. High-dose intravenous immunoglobulin exerts its beneficial effect in patients with dermatomyositis by blocking endomysial deposition of activated complement fragments. Basta, M., Dalakas, M.C. J. Clin. Invest. (1994) [Pubmed]
  11. Cell and fiber-type distribution of dystrophin. Hoffman, E.P., Hudecki, M.S., Rosenberg, P.A., Pollina, C.M., Kunkel, L.M. Neuron (1988) [Pubmed]
  12. The effects of single-dose alternate-day prednisone therapy on the immunological status of patients with neuromuscular diseases. Cook, J.D., Trotter, J.L., Engel, W.K., Sciabbarrasi, J.S. Ann. Neurol. (1978) [Pubmed]
  13. Botulinum toxin treatment of muscle cramps: a clinical and neurophysiological study. Bertolasi, L., Priori, A., Tomelleri, G., Bongiovanni, L.G., Fincati, E., Simonati, A., De Grandis, D., Rizzuto, N. Ann. Neurol. (1997) [Pubmed]
  14. Creatine monohydrate increases strength in patients with neuromuscular disease. Ikeda, K., Kinoshita, M., Iwasaki, Y., Wakata, N. Neurology (2000) [Pubmed]
  15. Carnitine intake and excretion in neuromuscular diseases. Carroll, J.E., Brooke, M.H., Shumate, J.B., Janes, N.J. Am. J. Clin. Nutr. (1981) [Pubmed]
  16. The acetylcholine receptor in normal and pathologic states. Immunoperoxidase visualization of alpha-bungarotoxin binding at a light and electron-microscopic level. Bender, A.N., Ringel, S.P., Engel, W.K. Neurology (1976) [Pubmed]
  17. Segregation distortion of the CTG repeats at the myotonic dystrophy locus. Chakraborty, R., Stivers, D.N., Deka, R., Yu, L.M., Shriver, M.D., Ferrell, R.E. Am. J. Hum. Genet. (1996) [Pubmed]
  18. Expression of immunoreactive major histocompatibility complex products in human skeletal muscles. Karpati, G., Pouliot, Y., Carpenter, S. Ann. Neurol. (1988) [Pubmed]
  19. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Sarnat, H.B. Neurology (1992) [Pubmed]
  20. Decamethonium and serum potassium in man. Fahmy, N.R., Gissen, A.J., Savarese, J.J., Kitz, R.J. Anesthesiology (1975) [Pubmed]
  21. Ultrastructural distribution of the M form of creatine phosphokinase in human muscle by immunogold labeling. Dankert, J.R., Papadi, G.P., Shields, R.P. Microsc. Res. Tech. (1992) [Pubmed]
  22. The proteins synaptotagmin and syntaxin are not general targets of Lambert-Eaton myasthenic syndrome autoantibody. Hajela, R.K., Atchison, W.D. J. Neurochem. (1995) [Pubmed]
  23. Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain. Vives-Corrons, J.L., Rubinson-Skala, H., Mateo, M., Estella, J., Feliu, E., Dreyfus, J.C. Hum. Genet. (1978) [Pubmed]
  24. Carbonic anhydrase-III immunohistochemical localization in human skeletal muscle. Shima, K., Tashiro, K., Hibi, N., Tsukada, Y., Hirai, H. Acta Neuropathol. (1983) [Pubmed]
  25. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. D'Amico, A., Benedetti, S., Petrini, S., Sambuughin, N., Boldrini, R., Menditto, I., Ferrari, M., Verardo, M., Goldfarb, L., Bertini, E. Neuromuscul. Disord. (2005) [Pubmed]
  26. COPD and other diseases in chronically ventilated patients in a prolonged respiratory care unit: a retrospective 20-year survival study. Votto, J., Brancifort, J.M., Scalise, P.J., Wollschlager, C.M., ZuWallack, R.L. Chest (1998) [Pubmed]
  27. Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. Sato, S., Nakamura, M., Cho, D.H., Tapscott, S.J., Ozaki, H., Kawakami, K. Hum. Mol. Genet. (2002) [Pubmed]
  28. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Agrawal, P.B., Strickland, C.D., Midgett, C., Morales, A., Newburger, D.E., Poulos, M.A., Tomczak, K.K., Ryan, M.M., Iannaccone, S.T., Crawford, T.O., Laing, N.G., Beggs, A.H. Ann. Neurol. (2004) [Pubmed]
  29. Conserved linkage of early growth response 4, annexin 4, and transforming growth factor alpha on mouse chromosome 6. Barrow, L.L., Simin, K., Jones, J.M., Lee, D.C., Meisler, M.H. Genomics (1994) [Pubmed]
  30. Role of nitric oxide and nitric oxide synthases in experimental models of denervation and reinnervation. Tews, D.S. Microsc. Res. Tech. (2001) [Pubmed]
  31. Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively. Wang, M.G., Yi, H., Hilfiker, H., Carafoli, E., Strehler, E.E., McBride, O.W. Cytogenet. Cell Genet. (1994) [Pubmed]
  32. Radioimmunoassay of serum myoglobin in neuromuscular diseases. Askmark, H., Osterman, P.O., Roxin, L.E., Venge, P. J. Neurol. Neurosurg. Psychiatr. (1981) [Pubmed]
  33. Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseases. Korthaus, D., Wedemeyer, N., Lengeling, A., Ronsiek, M., Jockusch, H., Schmitt-John, T. Genomics (1997) [Pubmed]
  34. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? van Berlo, J.H., de Voogt, W.G., van der Kooi, A.J., van Tintelen, J.P., Bonne, G., Yaou, R.B., Duboc, D., Rossenbacker, T., Heidbüchel, H., de Visser, M., Crijns, H.J., Pinto, Y.M. J. Mol. Med. (2005) [Pubmed]
  35. Comorbidities associated with constipation in children referred for colon manometry may mask functional diagnoses. Gertken, J.T., Cocjin, J., Pehlivanov, N., Danda, C., Hyman, P.E. J. Pediatr. Gastroenterol. Nutr. (2005) [Pubmed]
  36. In situ hybridization of myoglobin mRNA: results on the skeletal muscles of normal subjects and patients with neuromuscular diseases. Mitsui, T., Kawai, H., Naruo, T., Nishino, H., Saito, S. Acta Neuropathol. (1993) [Pubmed]
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