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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Paralysis


Psychiatry related information on Paralysis


High impact information on Paralysis

  • Mice carrying one functional copy of Pmp22 are less affected but they also exhibit focal tomacula comparable to the morphological features in hereditary neuropathy with liability to pressure palsies (HNPP) [7].
  • Deletion of a similar 1.5-Mb region is associated with hereditary neuropathy with liability to pressure palsies (HNPP), a clinically distinct neuropathy [8].
  • Erb's C V, VI palsies have improved function with cuff transfers and elbow flexor plasties [9].
  • Most important, even when the treatment was delayed until the disease symptoms were fully established, soluble CD83 clearly reduced the paralyses [10].
  • Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis [11].

Chemical compound and disease context of Paralysis


Biological context of Paralysis


Anatomical context of Paralysis


Gene context of Paralysis

  • Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy [26].
  • Deletion of the same region is associated with a second inherited neural disorder, the hereditary neuropathy with liability to pressure palsies (HNPP) [27].
  • In particular, the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot-Marie-Tooth disease type 1A (CMT1A), Charcot-Marie-Tooth disease type 1B (CMT1B), and hereditary neuropathy with liability to pressure palsies (HNPP) have been determined [28].
  • All patients having the CMT phenotype and intermediate conduction velocities who are negative for CMT1A duplication/hereditary neuropathy with liability to pressure palsies (HNPP) deletion, and whose family shows a dominant trait without male-to-male transmission, should be screened for CMTX1 [29].
  • Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies [30].

Analytical, diagnostic and therapeutic context of Paralysis


  1. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Warner, L.E., Hilz, M.J., Appel, S.H., Killian, J.M., Kolodry, E.H., Karpati, G., Carpenter, S., Watters, G.V., Wheeler, C., Witt, D., Bodell, A., Nelis, E., Van Broeckhoven, C., Lupski, J.R. Neuron (1996) [Pubmed]
  2. Nude rat model for studying metastasis of human tumor cells to bone and bone marrow. Kjønniksen, I., Nesland, J.M., Pihl, A., Fodstad, O. J. Natl. Cancer Inst. (1990) [Pubmed]
  3. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Reiter, L.T., Murakami, T., Koeuth, T., Gibbs, R.A., Lupski, J.R. Hum. Mol. Genet. (1997) [Pubmed]
  4. Visual loss from idiopathic intracranial pachymeningitis. Lam, B.L., Barrett, D.A., Glaser, J.S., Schatz, N.J., Brown, H.H. Neurology (1994) [Pubmed]
  5. Molecular alterations resulting from frameshift mutations in peripheral myelin protein 22: implications for neuropathy severity. Johnson, J.S., Roux, K.J., Fletcher, B.S., Fortun, J., Notterpek, L. J. Neurosci. Res. (2005) [Pubmed]
  6. Central neurotoxicity of cyclosporine in two children with nephrotic syndrome. Taque, S., Peudenier, S., Gie, S., Rambeau, M., Gandemer, V., Bridoux, L., Bétrémieux, P., De Parscau, L., Le Gall, E. Pediatr. Nephrol. (2004) [Pubmed]
  7. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Adlkofer, K., Martini, R., Aguzzi, A., Zielasek, J., Toyka, K.V., Suter, U. Nat. Genet. (1995) [Pubmed]
  8. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Roa, B.B., Garcia, C.A., Pentao, L., Killian, J.M., Trask, B.J., Suter, U., Snipes, G.J., Ortiz-Lopez, R., Shooter, E.M., Patel, P.I., Lupski, J.R. Nat. Genet. (1993) [Pubmed]
  9. Functional recovery and orthopedic management of brachial plexus palsies. Hoffer, M.M., Braun, R., Hsu, J., Mitani, M., Temes, K. JAMA (1981) [Pubmed]
  10. Prevention and treatment of experimental autoimmune encephalomyelitis by soluble CD83. Zinser, E., Lechmann, M., Golka, A., Lutz, M.B., Steinkasserer, A. J. Exp. Med. (2004) [Pubmed]
  11. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Tawil, R., McDermott, M.P., Brown, R., Shapiro, B.C., Ptacek, L.J., McManis, P.G., Dalakas, M.C., Spector, S.A., Mendell, J.R., Hahn, A.F., Griggs, R.C. Ann. Neurol. (2000) [Pubmed]
  12. Effects of edrophonium on saccadic velocity in normal subjects and myasthenic and nonmyasthenic ocular palsies. Barton, J.J., Huaman, A.G., Sharpe, J.A. Ann. Neurol. (1994) [Pubmed]
  13. Pupillary responses to dilute pilocarpine in preganglionic 3rd nerve disorders. Jacobson, D.M. Neurology (1990) [Pubmed]
  14. Length-tension curves of human eye muscles during succinylcholine-induced contraction. Simonsz, H.J., Kolling, G.H., van Dijk, B., Kaufmann, H. Invest. Ophthalmol. Vis. Sci. (1988) [Pubmed]
  15. A comparison of the effects of intrathecal fentanyl and lidocaine on established postamputation stump pain. Jacobson, L., Chabal, C., Brody, M.C., Mariano, A.J., Chaney, E.F. Pain (1990) [Pubmed]
  16. Neurological sequelae of malignant external otitis. Faden, A. Arch. Neurol. (1975) [Pubmed]
  17. PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies. Pareyson, D., Botti, S., Sghirlanzoni, A., Taroni, F. Neurology (1997) [Pubmed]
  18. Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Stockton, D.W., Meade, R.A., Netscher, D.T., Epstein, M.J., Shenaq, S.M., Shaffer, L.G., Lupski, J.R. Arch. Neurol. (2001) [Pubmed]
  19. A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies. Zéphir, H., Stojkovic, T., Latour, P., Hurtevent, J.F., Blankaert, F., Vermersch, P. Neuromuscul. Disord. (2005) [Pubmed]
  20. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Meretoja, P., Silander, K., Kalimo, H., Aula, P., Meretoja, A., Savontaus, M.L. Neuromuscul. Disord. (1997) [Pubmed]
  21. Diagnosis and management of asymptomatic hyperparathyroidism: safety, efficacy, and deficiencies in our knowledge. Clark, O.H., Wilkes, W., Siperstein, A.E., Duh, Q.Y. J. Bone Miner. Res. (1991) [Pubmed]
  22. A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Young, P., Wiebusch, H., Stögbauer, F., Ringelstein, B., Assmann, G., Funke, H. Neurology (1997) [Pubmed]
  23. Inflammation and neuropathic attacks in hereditary brachial plexus neuropathy. Klein, C.J., Dyck, P.J., Friedenberg, S.M., Burns, T.M., Windebank, A.J., Dyck, P.J. J. Neurol. Neurosurg. Psychiatr. (2002) [Pubmed]
  24. Clinical diversity of hereditary Duane's retraction syndrome. Chung, M., Stout, J.T., Borchert, M.S. Ophthalmology (2000) [Pubmed]
  25. Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene. Stögbauer, F., Young, P., Kerschensteiner, M., Ringelstein, E.B., Assmann, G., Funke, H. Muscle Nerve (1998) [Pubmed]
  26. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Chance, P.F., Fischbeck, K.H. Hum. Mol. Genet. (1994) [Pubmed]
  27. Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele. Adlkofer, K., Naef, R., Suter, U. J. Neurosci. Res. (1997) [Pubmed]
  28. Genetic basis of inherited peripheral neuropathies. Suter, U., Patel, P.I. Hum. Mutat. (1994) [Pubmed]
  29. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. Vondracek, P., Seeman, P., Hermanova, M., Fajkusova, L. Muscle Nerve (2005) [Pubmed]
  30. Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. Pareyson, D., Taroni, F. Curr. Opin. Neurol. (1996) [Pubmed]
  31. Combined use of neostigmine and ocular motility measurements in the diagnosis of myasthenia gravis. Miller, N.R., Morris, J.E., Maquire, M. Arch. Ophthalmol. (1982) [Pubmed]
  32. Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients. Bellone, E., Schenone, A., Mancardi, G., Nicholson, G.A., Abbruzzese, M., Ajmar, F., Mandich, P. Neurosci. Lett. (1996) [Pubmed]
  33. Localization procedures in patients with persistent or recurrent hyperparathyroidism. Rodriquez, J.M., Tezelman, S., Siperstein, A.E., Duh, Q.Y., Higgins, C., Morita, E., Dowd, C.F., Clark, O.H. Archives of surgery (Chicago, Ill. : 1960) (1994) [Pubmed]
  34. Major histocompatibility complex class II expression and macrophage responses in genetically proven Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies. Stoll, G., Gabreëls-Festen, A.A., Jander, S., Müller, H.W., Hanemann, C.O. Muscle Nerve (1998) [Pubmed]
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