메뉴 건너뛰기




Volumn 75, Issue 17, 2010, Pages 1555-1559

Genotype-phenotype correlation in vanishing white matter disease

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR;

EID: 78149275114     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f962ae     Document Type: Article
Times cited : (64)

References (24)
  • 1
    • 0030975392 scopus 로고    scopus 로고
    • A new leukoencephalopathy with vanishing white matter
    • Van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
    • (1997) Neurology , vol.48 , pp. 845-855
    • Van Der Knaap, M.S.1    Barth, P.G.2    Gabreëls, F.J.3
  • 3
    • 0028351908 scopus 로고
    • Childhood ataxia with diffuse central nervous hypomyelination
    • Schiffmann R, Moller JR, Trapp BD, et al. Childhood ataxia with diffuse central nervous hypomyelination. Ann Neurol 1994;35:331-340.
    • (1994) Ann. Neurol. , vol.35 , pp. 331-340
    • Schiffmann, R.1    Moller, J.R.2    Trapp, B.D.3
  • 4
    • 0242522401 scopus 로고    scopus 로고
    • EIF2B-related disorders: Antenatal onset and involvement of multiple organs
    • Van der Knaap MS, Van Berkel GM, Herms J, et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-1207.
    • (2003) Am. J. Hum Genet. , vol.73 , pp. 1199-1207
    • Van Der Knaap, M.S.1    Van Berkel, G.M.2    Herms, J.3
  • 5
    • 18344386777 scopus 로고    scopus 로고
    • Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
    • Leegwater PA, Vermeulen G, Könst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-388.
    • (2001) Nat. Genet. , vol.29 , pp. 383-388
    • Leegwater, P.A.1    Vermeulen, G.2    Könst, A.A.3
  • 6
    • 0036156978 scopus 로고    scopus 로고
    • Mutations in each of the fine subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
    • Van der Knaap MS, Leegwater PA, Könst AA, et al. Mutations in each of the fine subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002;51:264-270.
    • (2002) Ann. Neurol. , vol.51 , pp. 264-270
    • Van Der Knaap, M.S.1    Leegwater, P.A.2    Könst, A.A.3
  • 7
    • 0027519635 scopus 로고
    • Diffuse white matter disease in three children: An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy
    • Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993;24:244-248.
    • (1993) Neuropediatrics , vol.24 , pp. 244-248
    • Hanefeld, F.1    Holzbach, U.2    Kruse, B.3    Wilichowski, E.4    Christen, H.J.5    Frahm, J.6
  • 10
    • 28844478867 scopus 로고    scopus 로고
    • EIF2B, a mediator of general and gene-specific translational control
    • Pavitt GD. eIF2B, a mediator of general and gene-specific translational control. Biochem Soc Trans 2005;33:1487-1492.
    • (2005) Biochem. Soc. Trans , vol.33 , pp. 1487-1492
    • Pavitt, G.D.1
  • 11
    • 0037039241 scopus 로고    scopus 로고
    • Wong K Fatal infantile leukodystrophy: A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
    • Black DB, Harris R, Schiffmann R, Wong K Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2002;58:161-162.
    • (2002) Neurology , vol.58 , pp. 161-162
    • Black, D.B.1    Harris, R.2    Schiffmann, R.3
  • 12
    • 0036791923 scopus 로고    scopus 로고
    • Cree leukoencephalopathy and CACH/VWM disease are allelic at EIF2B5 locus
    • Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at EIF2B5 locus. Ann Neurol 2002;52:506-510.
    • (2002) Ann. Neurol. , vol.52 , pp. 506-510
    • Fogli, A.1    Wong, K.2    Eymard-Pierre, E.3
  • 13
    • 0034764190 scopus 로고    scopus 로고
    • Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia
    • Prass K, Brück W, Schroder NW, et al. Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol 2001;50:665-668.
    • (2001) Ann. Neurol. , vol.50 , pp. 665-668
    • Prass, K.1    Brück, W.2    Schroder, N.W.3
  • 14
    • 0347364662 scopus 로고    scopus 로고
    • Leukoencephalopathy with vanishing white matter: An adult onset case
    • Biancheri R, Rossi A, Di Rocco M, et al. Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 2003;61:1818-1819.
    • (2003) Neurology , vol.61 , pp. 1818-1819
    • Biancheri, R.1    Rossi, A.2    Di Rocco, M.3
  • 15
    • 2342551021 scopus 로고    scopus 로고
    • Arg113His mutation in eIF2Be as cause of leukoencephalopathy in adults
    • Van der Knaap MS, Leegwater PAJ, van Berkel CGM, et al. Arg113His mutation in eIF2Be as cause of leukoencephalopathy in adults. Neurology 2004;62:1598-1600.
    • (2004) Neurology , vol.62 , pp. 1598-1600
    • Van Der Knaap, M.S.1    Leegwater, P.A.J.2    Van Berkel, C.3
  • 16
    • 2342657880 scopus 로고    scopus 로고
    • The effect of genotype on the natural history of eIF2B-related leukodystrophies
    • Fogli A, Schiffmann R, Bertini E, et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004;62:1509-1517.
    • (2004) Neurology , vol.62 , pp. 1509-1517
    • Fogli, A.1    Schiffmann, R.2    Bertini, E.3
  • 17
    • 2342547021 scopus 로고    scopus 로고
    • Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5
    • Ohtake H, Shimohata T, Terajima K, et al. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 2004;62:1601-1603.
    • (2004) Neurology , vol.62 , pp. 1601-1603
    • Ohtake, H.1    Shimohata, T.2    Terajima, K.3
  • 18
    • 54049138732 scopus 로고    scopus 로고
    • Intrafamilial heterogeneity in adult onset vanishing white matter disease
    • Damon-Perriere N, Menegon P, Olivier A, et al. Intrafamilial heterogeneity in adult onset vanishing white matter disease. Clin Neurol Neurosurg 2008;110:1068-1071.
    • (2008) Clin. Neurol. Neurosurg. , vol.110 , pp. 1068-1071
    • Damon-Perriere, N.1    Menegon, P.2    Olivier, A.3
  • 19
    • 67749093175 scopus 로고    scopus 로고
    • Natural history of adult-onset eIF2B-related disorders: A multi-centric survey of 16 cases
    • Labauge P, Horzinski L, Ayrignac X, et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 2009;132:2161-2169.
    • (2009) Brain , vol.132 , pp. 2161-2169
    • Labauge, P.1    Horzinski, L.2    Ayrignac, X.3
  • 21
    • 32544451056 scopus 로고    scopus 로고
    • Identification of ten novel mutations in patients with eIF2B-related disorders
    • Ohlenbusch A, Henneke M, Brockmann K, et al. Identification of ten novel mutations in patients with eIF2B-related disorders. Hum Mutat 2005;25:411.
    • (2005) Hum Mutat. , vol.25 , pp. 411
    • Ohlenbusch, A.1    Henneke, M.2    Brockmann, K.3
  • 22
    • 32544438040 scopus 로고    scopus 로고
    • The large spectrum of eIF2B-related disorders
    • Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related disorders. Biochem Soc Trans 2006;34:22-29.
    • (2006) Biochem. Soc. Trans , vol.34 , pp. 22-29
    • Fogli, A.1    Boespflug-Tanguy, O.2
  • 23
    • 33749067442 scopus 로고    scopus 로고
    • The spectrum of mutations for the diagnosis of vanishing white matter disease
    • Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci 2006;27:271-277.
    • (2006) Neurol. Sci. , vol.27 , pp. 271-277
    • Scali, O.1    Di Perri, C.2    Federico, A.3
  • 24
    • 38349129157 scopus 로고    scopus 로고
    • Genetic and clinical heterogeneity in eIF2B-related disorder
    • Maletkovic J, Schiffmann R, Gorospe JR, et al. Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol 2008;23:205-215.
    • (2008) J. Child Neurol. , vol.23 , pp. 205-215
    • Maletkovic, J.1    Schiffmann, R.2    Gorospe, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.