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Volumn 27, Issue 10, 2006, Pages 2088-2092

Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; GLIAL FIBRILLARY ACIDIC PROTEIN; INOSITOL; LACTIC ACID; MUTANT PROTEIN; N ACETYLASPARTIC ACID;

EID: 33751211842     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (20)
  • 1
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    • Soffer D, Horoupian DS. Rosenthal fibers formation in the central nervous system: its relation to Alexander's disease. Acta Neuropathol (Berl) 1979;47:81-84
    • (1979) Acta Neuropathol (Berl) , vol.47 , pp. 81-84
    • Soffer, D.1    Horoupian, D.S.2
  • 2
    • 0020510394 scopus 로고
    • Alexander's disease: Further light-, and electron-microscopic observations
    • Towfighi J, Young R, Sassani J, et al. Alexander's disease: further light-, and electron-microscopic observations. Acta Neuropathol (Berl) 1983;61:36-42
    • (1983) Acta Neuropathol (Berl) , vol.61 , pp. 36-42
    • Towfighi, J.1    Young, R.2    Sassani, J.3
  • 4
    • 0020308698 scopus 로고
    • Alexander's disease in an adult: Clinicopathologic study of a case and review of the literature
    • Spalke G, Mennel HD. Alexander's disease in an adult: clinicopathologic study of a case and review of the literature. Clin Neuropathol 1982;1:106-12
    • (1982) Clin Neuropathol , vol.1 , pp. 106-112
    • Spalke, G.1    Mennel, H.D.2
  • 7
    • 0027375098 scopus 로고
    • Estimation of metabolite concentrations from localized in vivo proton NMR spectra
    • Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672-79
    • (1993) Magn Reson Med , vol.30 , pp. 672-679
    • Provencher, S.W.1
  • 8
    • 0027958362 scopus 로고
    • Prominent white matter cavitation in an infant with Alexander's disease
    • Klein EA, Anzil AP. Prominent white matter cavitation in an infant with Alexander's disease. Clin Neuropathol 1994;13:31-38
    • (1994) Clin Neuropathol , vol.13 , pp. 31-38
    • Klein, E.A.1    Anzil, A.P.2
  • 9
    • 0029973244 scopus 로고    scopus 로고
    • Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepancy mild clinical course
    • van der Knaap MS, Barth PG, Vrensen GF, et al. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepancy mild clinical course. Acta Neuropathol (Berl) 1996;92:206-12
    • (1996) Acta Neuropathol (Berl) , vol.92 , pp. 206-212
    • Van Der Knaap, M.S.1    Barth, P.G.2    Vrensen, G.F.3
  • 11
    • 1242351783 scopus 로고    scopus 로고
    • Alexander disease: Putative mechanisms of an astrocytic encephalopathy
    • Mignot C, Boespflug-Tanguy O, Gelot A, et al. Alexander disease: putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci 2004;61:369-85
    • (2004) Cell Mol Life Sci , vol.61 , pp. 369-385
    • Mignot, C.1    Boespflug-Tanguy, O.2    Gelot, A.3
  • 14
    • 0037188379 scopus 로고    scopus 로고
    • Molecular findings in symptomatic and pre-symptomatic Alexander disease patients
    • Gorospe JR, Naidu S, Johnson AB, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002;58:1494-500
    • (2002) Neurology , vol.58 , pp. 1494-1500
    • Gorospe, J.R.1    Naidu, S.2    Johnson, A.B.3
  • 15
    • 0034753242 scopus 로고    scopus 로고
    • Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation
    • Rodriguez D, Gauthier F, Bertini E, et al. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 2001;69:1134-40
    • (2001) Am J Hum Genet , vol.69 , pp. 1134-1140
    • Rodriguez, D.1    Gauthier, F.2    Bertini, E.3
  • 16
    • 20044372525 scopus 로고    scopus 로고
    • Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
    • Li R, Johnson AB, Salomons G, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57:310-26
    • (2005) Ann Neurol , vol.57 , pp. 310-326
    • Li, R.1    Johnson, A.B.2    Salomons, G.3
  • 17
    • 0035163913 scopus 로고    scopus 로고
    • Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
    • Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27:117-20
    • (2001) Nat Genet , vol.27 , pp. 117-120
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  • 18
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    • Alexander's disease in a neurologically normal child: A case report
    • Guthrie SO, Burton EM, Knowles P, et al. Alexander's disease in a neurologically normal child: a case report. Pediatr Radiol 2003;33:47-49
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    • Guthrie, S.O.1    Burton, E.M.2    Knowles, P.3
  • 19
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    • A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
    • Suzuki Y, Kanazawa N, Takenaka J, et al. A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. Brain Dev 2004; 26:206-08
    • (2004) Brain Dev , vol.26 , pp. 206-208
    • Suzuki, Y.1    Kanazawa, N.2    Takenaka, J.3
  • 20
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.