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MeSH Review

Charcot-Marie-Tooth Disease

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Disease relevance of Charcot-Marie-Tooth Disease


High impact information on Charcot-Marie-Tooth Disease


Biological context of Charcot-Marie-Tooth Disease


Anatomical context of Charcot-Marie-Tooth Disease


Gene context of Charcot-Marie-Tooth Disease


  1. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Reiter, L.T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D.M., Gibbs, R.A., Lupski, J.R. Nat. Genet. (1996) [Pubmed]
  2. De-novo mutation in hereditary motor and sensory neuropathy type I. Hoogendijk, J.E., Hensels, G.W., Gabreëls-Festen, A.A., Gabreëls, F.J., Janssen, E.A., de Jonghe, P., Martin, J.J., van Broeckhoven, C., Valentijn, L.J., Baas, F. Lancet (1992) [Pubmed]
  3. The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23. Pham-Dinh, D., Fourbil, Y., Blanquet, F., Mattéi, M.G., Roeckel, N., Latour, P., Chazot, G., Vandenberghe, A., Dautigny, A. Hum. Mol. Genet. (1993) [Pubmed]
  4. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Inoue, K., Dewar, K., Katsanis, N., Reiter, L.T., Lander, E.S., Devon, K.L., Wyman, D.W., Lupski, J.R., Birren, B. Genome Res. (2001) [Pubmed]
  5. Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's ataxia and peroneal muscular atrophy. Smith, N.J., Espir, M.L., Matthews, W.B. Brain (1978) [Pubmed]
  6. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Kulkens, T., Bolhuis, P.A., Wolterman, R.A., Kemp, S., te Nijenhuis, S., Valentijn, L.J., Hensels, G.W., Jennekens, F.G., de Visser, M., Hoogendijk, J.E. Nat. Genet. (1993) [Pubmed]
  7. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Valentijn, L.J., Baas, F., Wolterman, R.A., Hoogendijk, J.E., van den Bosch, N.H., Zorn, I., Gabreëls-Festen, A.W., de Visser, M., Bolhuis, P.A. Nat. Genet. (1992) [Pubmed]
  8. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Passage, E., Norreel, J.C., Noack-Fraissignes, P., Sanguedolce, V., Pizant, J., Thirion, X., Robaglia-Schlupp, A., Pellissier, J.F., Fontés, M. Nat. Med. (2004) [Pubmed]
  9. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Bergoffen, J., Scherer, S.S., Wang, S., Scott, M.O., Bone, L.J., Paul, D.L., Chen, K., Lensch, M.W., Chance, P.F., Fischbeck, K.H. Science (1993) [Pubmed]
  10. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Chance, P.F., Bird, T.D., O'Connell, P., Lipe, H., Lalouel, J.M., Leppert, M. Am. J. Hum. Genet. (1990) [Pubmed]
  11. Carbohydrate metabolites in the blood and CSF of patients with neuromuscular disorders. Mechler, F., Diószeghy, P., Csenkér, E., Molnár, L. J. Neurol. (1981) [Pubmed]
  12. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Nishimura, T., Yoshikawa, H., Fujimura, H., Sakoda, S., Yanagihara, T. Acta Neuropathol. (1996) [Pubmed]
  13. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs. Hanemann, C.O., Gabreëls-Festen, A.A., Stoll, G., Müller, H.W. Acta Neuropathol. (1997) [Pubmed]
  14. Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. Graf, W.D., Chance, P.F., Lensch, M.W., Eng, L.J., Lipe, H.P., Bird, T.D. Cancer (1996) [Pubmed]
  15. Severe neuropathy with leaky connexin32 hemichannels. Liang, G.S., de Miguel, M., Gómez-Hernández, J.M., Glass, J.D., Scherer, S.S., Mintz, M., Barrio, L.C., Fischbeck, K.H. Ann. Neurol. (2005) [Pubmed]
  16. Oct6, a transcription factor controlling myelination, is a marker for active nerve regeneration in peripheral neuropathies. Kawasaki, T., Oka, N., Tachibana, H., Akiguchi, I., Shibasaki, H. Acta Neuropathol. (2003) [Pubmed]
  17. Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. Harding, A.E., Thomas, P.K. J. Neurol. (1980) [Pubmed]
  18. Degeneration of anterior horn cell in neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type II): a Golgi study. Ono, S., Hara, K., Sasaki, H., Sugano, I., Nagao, K. Acta Neuropathol. (1993) [Pubmed]
  19. Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene. Hai, M., Bidichandani, S.I., Hogan, M.E., Patel, P.I. Antisense Nucleic Acid Drug Dev. (2001) [Pubmed]
  20. Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation. Giambonini-Brugnoli, G., Buchstaller, J., Sommer, L., Suter, U., Mantei, N. Neurobiol. Dis. (2005) [Pubmed]
  21. 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]
  22. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. Anzini, P., Neuberg, D.H., Schachner, M., Nelles, E., Willecke, K., Zielasek, J., Toyka, K.V., Suter, U., Martini, R. J. Neurosci. (1997) [Pubmed]
  23. Genetic analysis of the myotubularin family of phosphatases in Caenorhabditis elegans. Xue, Y., Fares, H., Grant, B., Li, Z., Rose, A.M., Clark, S.G., Skolnik, E.Y. J. Biol. Chem. (2003) [Pubmed]
  24. Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. Fortun, J., Go, J.C., Li, J., Amici, S.A., Dunn, W.A., Notterpek, L. Neurobiol. Dis. (2006) [Pubmed]
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