메뉴 건너뛰기




Volumn 12, Issue 2, 2001, Pages 277-291

Molecular basis of hereditary neuropathies

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; MYELIN PROTEIN;

EID: 0035034412     PISSN: 10479651     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1047-9651(18)30069-x     Document Type: Review
Times cited : (15)

References (70)
  • 1
    • 0005046359 scopus 로고
    • Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy
    • (1939) Arch Intern Med , vol.63 , pp. 1123-1131
    • Allan, W.1
  • 6
    • 0030030169 scopus 로고    scopus 로고
    • Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
    • (1996) Am J Hum Genet , vol.58 , pp. 472-476
    • Blair, I.P.1    Nash, J.2    Gordon, M.J.3
  • 13
    • 0027997765 scopus 로고
    • Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: Two distinct genetic disorders
    • (1994) Neurology , vol.44 , pp. 2253-2257
    • Chance, P.F.1    Lensch, M.W.2    Lipe, H.3
  • 17
    • 65749318026 scopus 로고
    • Two new mutants, "Trembler" and "Reeler" with neurological actions in the mouse (Mus musculus L.)
    • (1951) J Med Genet , vol.50 , pp. 192-201
    • Falconer, D.S.1
  • 20
    • 0031471867 scopus 로고    scopus 로고
    • Gene dosage effects in hereditary peripheral neuropathy: Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies
    • (1997) Neurology , vol.49 , pp. 1635-1640
    • Gabriel, J.M.1    Erne, B.2    Pareyson, D.3
  • 21
    • 0021908106 scopus 로고
    • X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq
    • (1985) Hum Genet , vol.70 , pp. 38-42
    • Gal, A.1    Mucke, J.2    Thelie, H.3
  • 23
    • 0028148430 scopus 로고
    • Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: Two distinct clinical, electrophysiologic, and genetic entities
    • (1994) Neurology , vol.44 , pp. 2250-2252
    • Gouider, R.1    LeGuern, E.2    Emile, J.3
  • 30
    • 0028847995 scopus 로고
    • Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics
    • (1995) Muscle Nerve , vol.18 , pp. 267-275
    • Ionasescu, V.V.1
  • 32
    • 0030900182 scopus 로고    scopus 로고
    • A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
    • (1997) Neurology , vol.48 , pp. 867-873
    • Kessali, M.1    Zemmouri, R.2    Guilbot, A.3
  • 34
    • 0027584197 scopus 로고
    • The molecular genetics of myelination: An update
    • (1993) Glia , vol.7 , pp. 263-271
    • Lemke, G.1
  • 37
    • 0000325399 scopus 로고
    • The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): Studies on the formation of the abnormal myelin sheath
    • (1975) J Neurol Sci , vol.25 , pp. 415-448
    • Madrid, R.1    Bradley, W.G.2
  • 41
  • 43
    • 0025892749 scopus 로고
    • Penetrance of the hereditary motor and sensory neuropathy Ia mutation: Assessment by nerve conduction studies
    • (1991) Neurology , vol.41 , pp. 547-552
    • Nicholson, G.A.1
  • 53
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth disease
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 54
    • 0029014126 scopus 로고
    • Molecular anatomy and genetics of myelin proteins in the peripheral nervous system
    • (1995) J Anat , vol.186 , pp. 483-494
    • Snipes, G.J.1    Suter, U.2
  • 68
    • 0032518241 scopus 로고    scopus 로고
    • Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression
    • (1998) J Neurosci Res , vol.51 , pp. 154-161
    • Yoshimura, T.1    Satake, M.2    Ohnishi, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.