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MeSH Review

Spinal Muscular Atrophies of Childhood

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Disease relevance of Spinal Muscular Atrophies of Childhood


High impact information on Spinal Muscular Atrophies of Childhood


Chemical compound and disease context of Spinal Muscular Atrophies of Childhood


Biological context of Spinal Muscular Atrophies of Childhood


Gene context of Spinal Muscular Atrophies of Childhood


Analytical, diagnostic and therapeutic context of Spinal Muscular Atrophies of Childhood


  1. Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. Shaw, P.J., Ince, P.G., Goodship, J., Burn, J., Slade, J., Bates, D., Medwin, D.G. Neurology (1992) [Pubmed]
  2. Human leg neuromuscular diseases: P-31 MR spectroscopy. Bárány, M., Siegel, I.M., Venkatasubramanian, P.N., Mok, E., Wilbur, A.C. Radiology. (1989) [Pubmed]
  3. Facioscapulohumeral muscular dystrophy: muscle fiber type analysis with particular reference to small angular fibers. Lin, M.Y., Nonaka, I. Brain Dev. (1991) [Pubmed]
  4. Echocardiography in neurological disorders. Lintermans, J.P. Eur. J. Pediatr. (1987) [Pubmed]
  5. Endothelial alterations of skeletal muscle capillaries in childhood myopathies. Kobayashi, Y., Suzuki, H., Iinuma, K., Tada, K., Yamamoto, T.Y. Tohoku J. Exp. Med. (1983) [Pubmed]
  6. SMN gene deletion in variant of infantile spinal muscular atrophy. Bürglen, L., Spiegel, R., Ignatius, J., Cobben, J.M., Landrieu, P., Lefebvre, S., Munnich, A., Melki, J. Lancet (1995) [Pubmed]
  7. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Moreira, E.S., Vainzof, M., Marie, S.K., Sertié, A.L., Zatz, M., Passos-Bueno, M.R. Am. J. Hum. Genet. (1997) [Pubmed]
  8. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Bürglen, L., Seroz, T., Miniou, P., Lefebvre, S., Burlet, P., Munnich, A., Pequignot, E.V., Egly, J.M., Melki, J. Am. J. Hum. Genet. (1997) [Pubmed]
  9. Spinal muscular atrophy: present state. Schmalbruch, H., Haase, G. Brain Pathol. (2001) [Pubmed]
  10. Dicarboxylic aciduria in an infant with spinal muscular atrophy. Kelley, R.I., Sladky, J.T. Ann. Neurol. (1986) [Pubmed]
  11. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Andreassi, C., Jarecki, J., Zhou, J., Coovert, D.D., Monani, U.R., Chen, X., Whitney, M., Pollok, B., Zhang, M., Androphy, E., Burghes, A.H. Hum. Mol. Genet. (2001) [Pubmed]
  12. Vitamin E deficiency in Werdnig-Hoffmann disease. Shapira, Y., Amit, R., Rachmilewitz, E. Ann. Neurol. (1981) [Pubmed]
  13. Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. Angelini, C., Micaglio, G.F., Trevisan, C. Acta neurologica. (1980) [Pubmed]
  14. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Rudnik-Schöneborn, S., Goebel, H.H., Schlote, W., Molaian, S., Omran, H., Ketelsen, U., Korinthenberg, R., Wenzel, D., Lauffer, H., Kreiss-Nachtsheim, M., Wirth, B., Zerres, K. Neurology (2003) [Pubmed]
  15. DNA fragmentation and BCL-2 expression in infantile spinal muscular atrophy. Tews, D.S., Goebel, H.H. Neuromuscul. Disord. (1996) [Pubmed]
  16. Morphological differences between the atrophied small muscle fibres in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. Fidziańska, A. Acta Neuropathol. (1976) [Pubmed]
  17. Gene deletions in Arab patients with spinal muscular atrophy. Haider, M.Z., Moosa, A. J. Child Neurol. (1997) [Pubmed]
  18. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Sarnat, H.B. Neurology (1992) [Pubmed]
  19. Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene. Yamashita, M., Nishio, H., Harada, Y., Matsuo, M., Yamamoto, T. Eur. Neurol. (2004) [Pubmed]
  20. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Diep Tran, T., Kroepfl, T., Saito, M., Nagura, M., Ichiseki, H., Kubota, M., Toda, T., Sakakihara, Y. Brain Dev. (2001) [Pubmed]
  21. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Salviati, L., Sacconi, S., Rasalan, M.M., Kronn, D.F., Braun, A., Canoll, P., Davidson, M., Shanske, S., Bonilla, E., Hays, A.P., Schon, E.A., DiMauro, S. Arch. Neurol. (2002) [Pubmed]
  22. Reduced branching and length of dendrites detected in cervical spinal cord motoneurons of Wobbler mouse, a model for inherited motoneuron disease. Ma, W.Y., Vacca-Galloway, L.L. J. Comp. Neurol. (1991) [Pubmed]
  23. Animal model of human disease. Infantile spinal muscular atrophy, Werdnig-Hoffman disease. Animal model: Hereditary neuronal abiotrophy in Swedish Lapland dogs. Sandefeldt, E., Cummings, J.F., de Lahunta, A., Björck, G., Krook, L.P. Am. J. Pathol. (1976) [Pubmed]
  24. Anesthesia for cesarean section in a patient with spinal muscular atrophy. Habib, A.S., Helsley, S.E., Millar, S., Deballi, P., Muir, H.A. Journal of clinical anesthesia. (2004) [Pubmed]
  25. Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes. Stipoljev, F., Sertić, J., Latin, V., Rukavina-Stavljenić, A., Kurjak, A. Croat. Med. J. (1999) [Pubmed]
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