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Volumn 883, Issue , 1999, Pages 310-320

Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN; PMP22 PROTEIN, HUMAN; PMP22 PROTEIN, MOUSE;

EID: 0033554303     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08593.x     Document Type: Article
Times cited : (11)

References (34)
  • 1
    • 0031934267 scopus 로고    scopus 로고
    • Genetically determined neuropathies
    • REILLY, M. M. 1998. Genetically determined neuropathies. J. Neurol. 245: 6-13.
    • (1998) J. Neurol. , vol.245 , pp. 6-13
    • Reilly, M.M.1
  • 2
    • 0030696172 scopus 로고    scopus 로고
    • Animal models for inherited peripheral neuropathies
    • MARTINI, R. 1997. Animal models for inherited peripheral neuropathies. J. Anat. 191: 321-336.
    • (1997) J. Anat. , vol.191 , pp. 321-336
    • Martini, R.1
  • 3
    • 0031723901 scopus 로고    scopus 로고
    • Inherited demyelinating neuropathies: From gene to disease
    • MARTINI, R., J. ZIELASEK & K.V. TOYKA. 1998. Inherited demyelinating neuropathies: from gene to disease. Curr. Opin. Neurol. 11: 545-556.
    • (1998) Curr. Opin. Neurol. , vol.11 , pp. 545-556
    • Martini, R.1    Zielasek, J.2    Toyka, K.V.3
  • 5
    • 0028784820 scopus 로고
    • Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
    • ADLKOFER, K., R. MARTINI, A. AGUZZI, et al. 1995. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat. Genet. 11: 274-280.
    • (1995) Nat. Genet. , vol.11 , pp. 274-280
    • Adlkofer, K.1    Martini, R.2    Aguzzi, A.3
  • 6
    • 0030994297 scopus 로고    scopus 로고
    • Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
    • ADLKOFER, K., R. FREI, D. H. NEUBERG, et al. 1997. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J. Neurosci. 17: 4662-4671.
    • (1997) J. Neurosci. , vol.17 , pp. 4662-4671
    • Adlkofer, K.1    Frei, R.2    Neuberg, D.H.3
  • 7
    • 0029399637 scopus 로고
    • Clinical, electrophyslologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
    • GOUIDER, R., G. E. LE, M. GUGENHEIM, et al. 1995. Clinical, electrophyslologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45: 2018-2023.
    • (1995) Neurology , vol.45 , pp. 2018-2023
    • Gouider, R.1    Le, G.E.2    Gugenheim, M.3
  • 8
    • 0029843863 scopus 로고    scopus 로고
    • Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
    • MAGYAR, J. P., R. MARTINI, T. RUELICKE, et al. 1996. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci. 16: 5351-5360.
    • (1996) J. Neurosci. , vol.16 , pp. 5351-5360
    • Magyar, J.P.1    Martini, R.2    Ruelicke, T.3
  • 9
    • 15844393894 scopus 로고    scopus 로고
    • A transgenic rat model of Charcot-Marie-Tooth disease
    • SEREDA, M., I. GRIFFITHS, A. PUHLHOFER, et al. 1996. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049-1060.
    • (1996) Neuron , vol.16 , pp. 1049-1060
    • Sereda, M.1    Griffiths, I.2    Puhlhofer, A.3
  • 10
    • 0029877942 scopus 로고    scopus 로고
    • Construction of a mouse model of Charcot-Marie-Tooth disease type IA by pronuclear injection of human YAC DNA
    • HUXLEY, C., E. PASSAGE, A. MANSON, et al. 1996. Construction of a mouse model of Charcot-Marie-Tooth disease type IA by pronuclear injection of human YAC DNA. Hum. Mol. Genet. 5: 563-569.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 563-569
    • Huxley, C.1    Passage, E.2    Manson, A.3
  • 11
    • 0029843863 scopus 로고    scopus 로고
    • Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
    • MAGYAR, J. P., R. MARTINI, T. RUELICKE, et al. 1996. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci. 16: 5351-5360.
    • (1996) J. Neurosci. , vol.16 , pp. 5351-5360
    • Magyar, J.P.1    Martini, R.2    Ruelicke, T.3
  • 12
    • 6844255894 scopus 로고    scopus 로고
    • Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice
    • HUXLEY, C., E. PASSAGE, A. M. ROBERTSON, et al. 1998. Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum. Mol. Genet. 7: 449-458.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 449-458
    • Huxley, C.1    Passage, E.2    Robertson, A.M.3
  • 13
    • 0030919339 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type IA with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
    • BIROUK, N., R. GOUIDER, G. E. LE, et al. 1997. Charcot-Marie-Tooth disease type IA with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120: 813-823.
    • (1997) Brain , vol.120 , pp. 813-823
    • Birouk, N.1    Gouider, R.2    Le, G.E.3
  • 14
    • 0026615047 scopus 로고
    • 0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
    • 0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71: 565-576.
    • (1992) Cell , vol.71 , pp. 565-576
    • Giese, K.P.1    Martini, R.2    Lemke, G.3
  • 15
    • 0028824925 scopus 로고
    • 0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
    • 0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat. Genet. 11: 281-286.
    • (1995) Nat. Genet. , vol.11 , pp. 281-286
    • Martini, R.1    Zielasek, J.2    Toyka, K.V.3
  • 16
    • 0343687249 scopus 로고    scopus 로고
    • Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice
    • NELLES, E., C. BUTZLER, D. JUNG, et al. 1996. Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc. Natl. Acad. Sci. USA 93: 9565-9570.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 9565-9570
    • Nelles, E.1    Butzler, C.2    Jung, D.3
  • 17
    • 0030979840 scopus 로고    scopus 로고
    • Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
    • ANZINI, P., D. H. NEUBERG, M. SCHACHNER, et al. 1997. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J. Neurosci. 17: 4545-4551.
    • (1997) J. Neurosci. , vol.17 , pp. 4545-4551
    • Anzini, P.1    Neuberg, D.H.2    Schachner, M.3
  • 18
    • 0030724815 scopus 로고    scopus 로고
    • Hereditary neuromyotonia: A mouse model associated with deficiency or increased gene dosage of the PMP22 gene
    • TOYKA, K. V., J. ZIELASEK, K. RICKER, et al. 1997. Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene [letter]. J. Neurol. Neurosurg. Psychiatry 63: 812-813.
    • (1997) J. Neurol. Neurosurg. Psychiatry , vol.63 , pp. 812-813
    • Toyka, K.V.1    Zielasek, J.2    Ricker, K.3
  • 19
    • 0026605507 scopus 로고
    • Trembler mouse carries a point mutation in a myelin gene
    • SUTER, U., A. A. WELCHER, T. OZCELIK, et al. 1992. Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244.
    • (1992) Nature , vol.356 , pp. 241-244
    • Suter, U.1    Welcher, A.A.2    Ozcelik, T.3
  • 20
    • 0026554289 scopus 로고
    • A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse
    • SUTER, U., J. J. MOSKOW, A. A. WELCHER, et al. 1992. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc. Natl. Acad. Sci. USA 89: 4382-4386.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 4382-4386
    • Suter, U.1    Moskow, J.J.2    Welcher, A.A.3
  • 21
    • 0016784725 scopus 로고
    • Hereditary demyelinating neuropathy in the trembler mouse
    • LOW, P. A. & J. G. MCLEOD. 1975. Hereditary demyelinating neuropathy in the trembler mouse. J. Neurol. Sci. 26: 565-574.
    • (1975) J. Neurol. Sci. , vol.26 , pp. 565-574
    • Low, P.A.1    McLeod, J.G.2
  • 22
    • 0017740568 scopus 로고
    • Refractory period, conduction of trains of impulses, and effect of temperature on conduction in chronic hypertrophic neuropathy
    • LOW, P. A. & J. G. MCLEOD. 1977. Refractory period, conduction of trains of impulses, and effect of temperature on conduction in chronic hypertrophic neuropathy. J. Neurol. Neurosurg. Psychiatry 40: 434-447.
    • (1977) J. Neurol. Neurosurg. Psychiatry , vol.40 , pp. 434-447
    • Low, P.A.1    McLeod, J.G.2
  • 23
    • 65749318026 scopus 로고
    • Two new mutants, "trembler" and "recler," with neurological actions in the house mouse (Mus musculus L.)
    • FALCONER, D. S. 1951. Two new mutants, "trembler" and "recler," with neurological actions in the house mouse (Mus musculus L.). J. Genet. 50: 192-201.
    • (1951) J. Genet. , vol.50 , pp. 192-201
    • Falconer, D.S.1
  • 24
    • 0015785567 scopus 로고
    • A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man
    • AYERS, M. M. & R. MCD. ANDERSON. 1973. A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man. Acta Neuropathol. (Berlin) 25: 54-70.
    • (1973) Acta Neuropathol. (Berlin) , vol.25 , pp. 54-70
    • Ayers, M.M.1    McD Anderson, R.2
  • 25
    • 0001342739 scopus 로고
    • A syndrome of continuous muscle-fibre activity
    • ISAACS, H. 1961. A syndrome of continuous muscle-fibre activity. J. Neurol. Neurosurg. Psychiatry 24: 319-325.
    • (1961) J. Neurol. Neurosurg. Psychiatry , vol.24 , pp. 319-325
    • Isaacs, H.1
  • 27
    • 0028035020 scopus 로고
    • AAEM minimonograph 44: Diseases associated with excess motor unit activity
    • AUGER, R. G. 1994. AAEM minimonograph 44: diseases associated with excess motor unit activity. Muscle Nerve 17: 1250-1263.
    • (1994) Muscle Nerve , vol.17 , pp. 1250-1263
    • Auger, R.G.1
  • 28
    • 0025817283 scopus 로고
    • Autoimmune aetiology for acquired neuromyotonia (Isaacs' syndrome)
    • SINHA, S., J. NEWSOM-DAVIS, K. MILLS, et al. 1991. Autoimmune aetiology for acquired neuromyotonia (Isaacs' syndrome) Lancet 338: 75-77.
    • (1991) Lancet , vol.338 , pp. 75-77
    • Sinha, S.1    Newsom-Davis, J.2    Mills, K.3
  • 29
    • 0023796971 scopus 로고
    • Association of lower motor neuron disorders with fasciculation, neuromyotonia and myoclonus
    • LANCE, J. W. 1988. Association of lower motor neuron disorders with fasciculation, neuromyotonia and myoclonus. Aust. Paediatr. J. 24(Suppl. 1): 113-115.
    • (1988) Aust. Paediatr. J. , vol.24 , Issue.SUPPL. 1 , pp. 113-115
    • Lance, J.W.1
  • 30
    • 0018378987 scopus 로고
    • Hyperexcitability of motor and sensory neurons in neuromyotonia
    • LANCE, J. W., D. BURKE & J. POLLARD. 1979. Hyperexcitability of motor and sensory neurons in neuromyotonia. Ann. Neurol. 5: 523-532.
    • (1979) Ann. Neurol. , vol.5 , pp. 523-532
    • Lance, J.W.1    Burke, D.2    Pollard, J.3
  • 31
    • 0027293659 scopus 로고
    • Hereditary motor-sensory neuropathy and movement disorders
    • CARDOSO, F. E. & J. JANKOVIC. 1993. Hereditary motor-sensory neuropathy and movement disorders. Muscle Nerve 16: 904-910.
    • (1993) Muscle Nerve , vol.16 , pp. 904-910
    • Cardoso, F.E.1    Jankovic, J.2
  • 32
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • HARDING, A. E. & P. K. THOMAS. 1980. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103: 259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 33
    • 0003014963 scopus 로고
    • Pathophysiology of demyelinated axons
    • S. G. Waxman, J. D. Kocsis & P. K. Stys, Eds.: Oxford University Press, New York
    • WAXMAN, S. G., J.D. KOCSIS & J.A. BLACK. 1995. Pathophysiology of demyelinated axons. In The Axon: Structure, Function and Pathophysiology. S. G. Waxman, J. D. Kocsis & P. K. Stys, Eds.: 438-461. Oxford University Press, New York.
    • (1995) The Axon: Structure, Function and Pathophysiology , pp. 438-461
    • Waxman, S.G.1    Kocsis, J.D.2    Black, J.A.3
  • 34
    • 0002908321 scopus 로고
    • Abnormal excitability in injured axons
    • S.G. Waxman, J.D. Kocsis & P.K. Stys, Eds.: Oxford University Press, New York
    • DEVOR, M. 1995. Abnormal excitability in injured axons. In The Axon. Structure, Function and Pathophysiology. S.G. Waxman, J.D. Kocsis & P.K. Stys, Eds.: 530-552. Oxford University Press, New York.
    • (1995) The Axon. Structure, Function and Pathophysiology , pp. 530-552
    • Devor, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.