메뉴 건너뛰기




Volumn 883, Issue , 1999, Pages 42-46

Charcot-Marie-Tooth disease type 2

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN; MYELIN PROTEIN;

EID: 0033554307     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08565.x     Document Type: Article
Times cited : (14)

References (24)
  • 1
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies
    • DYCK, P.J. & E.H. LAMBERT. 1968. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. Arch. Neurol. 18: 603-618.
    • (1968) Arch. Neurol. , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 2
    • 0014301112 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations
    • DYCK, P.J. & E.H. LAMBERT. 1968. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch. Neurol 18: 619-625.
    • (1968) Arch. Neurol , vol.18 , pp. 619-625
    • Dyck, P.J.1    Lambert, E.H.2
  • 3
    • 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
  • 4
    • 0018949405 scopus 로고
    • Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
    • HARDING, A.E. & P.K. THOMAS. 1980. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J. Med. Genet. 17: 329-336.
    • (1980) J. Med. Genet. , vol.17 , pp. 329-336
    • Harding, A.E.1    Thomas, P.K.2
  • 5
    • 0000015558 scopus 로고
    • Muscular atrophy of the peroneal type affecting many members of a family
    • HERRINGHAM, W.P. 1888. Muscular atrophy of the peroneal type affecting many members of a family. Brain 11: 230-236.
    • (1888) Brain , vol.11 , pp. 230-236
    • Herringham, W.P.1
  • 6
    • 0023254209 scopus 로고
    • Hereditary motor and sensory neuropathy, X-linked: A half-century follow-up
    • ROZEAR, M.P. et al. 1987. Hereditary motor and sensory neuropathy, X-linked: a half-century follow-up. Neurology 37: 1460-1465.
    • (1987) Neurology , vol.37 , pp. 1460-1465
    • Rozear, M.P.1
  • 7
    • 0027772413 scopus 로고
    • Connexin mutations in X-linked Charcot-Marie-Tooth disease
    • BERGOFFEN, J. et al. 1993. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2042.
    • (1993) Science , vol.262 , pp. 2039-2042
    • Bergoffen, J.1
  • 8
    • 0029894937 scopus 로고    scopus 로고
    • Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes Ip35-p36 and Xq13
    • TIMMERMAN, V. et al. 1996. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes Ip35-p36 and Xq13. Neurology 46: 1311-1318.
    • (1996) Neurology , vol.46 , pp. 1311-1318
    • Timmerman, V.1
  • 9
    • 0032066457 scopus 로고    scopus 로고
    • X-linked dominant Charcot-Marie-Tooth disease: Nerve biopsies allow morphological evaluation and detection of Connexin 32 mutations (Arg15Trp, Arg22Gln)
    • SENDEREK, J. et al. 1998. X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of Connexin 32 mutations (Arg15Trp, Arg22Gln). Acta Neuropathol. 95: 443-449.
    • (1998) Acta Neuropathol. , vol.95 , pp. 443-449
    • Senderek, J.1
  • 10
    • 0027518014 scopus 로고
    • Expression of the protein zero myelin gene in axon-related Schwann cells is linked to basal lamina formation
    • FERNANDEZ-VALLE, C. et al. 1993. Expression of the protein zero myelin gene in axon-related Schwann cells is linked to basal lamina formation. Development 119: 867-880.
    • (1993) Development , vol.119 , pp. 867-880
    • Fernandez-Valle, C.1
  • 12
    • 0027422165 scopus 로고
    • 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
    • 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet. 5: 266-268.
    • (1993) Nature Genet. , vol.5 , pp. 266-268
    • Hayasaka, K.1
  • 13
    • 0031842421 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
    • MARROSU, M.G. et al. 1998. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 50: 1397-1401.
    • (1998) Neurology , vol.50 , pp. 1397-1401
    • Marrosu, M.G.1
  • 14
    • 0032949034 scopus 로고    scopus 로고
    • The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-tooth phenotype
    • DE JONGHE, P. et al. 1999. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-tooth phenotype. Brain 122: 281-290.
    • (1999) Brain , vol.122 , pp. 281-290
    • De Jonghe, P.1
  • 15
    • 0033027371 scopus 로고    scopus 로고
    • Axonal pheotype of Charcot-Marie-tooth disease associated with a mutation in the myelin protein zero gene
    • CHAPON, F., et al. 1999. Axonal pheotype of Charcot-Marie-tooth disease associated with a mutation in the myelin protein zero gene. J. Neurol. Neurosurg. Psychiatry 66: 779-782.
    • (1999) J. Neurol. Neurosurg. Psychiatry , vol.66 , pp. 779-782
    • Chapon, F.1
  • 16
    • 0031215415 scopus 로고    scopus 로고
    • Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity
    • PERICAK-VANCE, M.A. et al. 1997. Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1: 89-93.
    • (1997) Neurogenetics , vol.1 , pp. 89-93
    • Pericak-Vance, M.A.1
  • 17
    • 0031470266 scopus 로고    scopus 로고
    • Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2-fto chromosome 1p (CMT2A) and the clinical features of CMT2A
    • SAITO, M. et al. 1997. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2-fto chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 49: 630-635.
    • (1997) Neurology , vol.49 , pp. 630-635
    • Saito, M.1
  • 18
    • 0029150128 scopus 로고
    • Assignment of a second Charcot-Marie-Tooth type 11 locus to chromosome 3q
    • KWON, J.M. et al. 1995. Assignment of a second Charcot-Marie-Tooth type 11 locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 853-858
    • Kwon, J.M.1
  • 19
    • 0029943006 scopus 로고    scopus 로고
    • Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease type 2B
    • VANCE, J.M. et al. 1996. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease type 2B. Am. J. Hum. Genet. 59: 258-260.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 258-260
    • Vance, J.M.1
  • 20
    • 0030928374 scopus 로고    scopus 로고
    • Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
    • DE JONG, P. et al. 1997. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J. Neurol. 62: 570-573.
    • (1997) J. Neurol. , vol.62 , pp. 570-573
    • De Jong, P.1
  • 21
    • 0031711989 scopus 로고    scopus 로고
    • Respiratory insufficiency in Charcot-Marie-Tooth Disease
    • HIRSCH, N.P. 1998. Respiratory insufficiency in Charcot-Marie-Tooth Disease. Anaesthesia 53: 1034.
    • (1998) Anaesthesia , vol.53 , pp. 1034
    • Hirsch, N.P.1
  • 22
    • 0028356510 scopus 로고
    • Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
    • DYCK, P.J. et al. 1994. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann. Neurol. 35: 608-615.
    • (1994) Ann. Neurol. , vol.35 , pp. 608-615
    • Dyck, P.J.1
  • 23
    • 0030011973 scopus 로고    scopus 로고
    • Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
    • YOSHTOKA, R. et al. 1996. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 46: 569-571.
    • (1996) Neurology , vol.46 , pp. 569-571
    • Yoshtoka, R.1
  • 24
    • 0029831478 scopus 로고    scopus 로고
    • Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
    • IONASESCU, V. et al. 1996. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum. Mol. Genet. 5: 1373-1375.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1373-1375
    • Ionasescu, V.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.