메뉴 건너뛰기




Volumn 110, Issue 10, 2008, Pages 1035-1037

The ovarioleukodystrophy

Author keywords

eIF2B; Leukodystrophy; Ovarioleukodystrophy; Premature ovarian failure

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE COURSE; EIF2B5 GENE; FEMALE; GENE; GENE MUTATION; HUMAN; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARIOLEUKODYSTROPHY; OVARY INSUFFICIENCY; PREMATURE OVARIAN FAILURE;

EID: 54049086082     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2008.06.002     Document Type: Article
Times cited : (17)

References (21)
  • 7
    • 32544438040 scopus 로고    scopus 로고
    • The large spectrum of eIF2B-related diseases
    • Fogli A., and Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases. Biochem Soc Trans 34 (2006) 22-29
    • (2006) Biochem Soc Trans , vol.34 , pp. 22-29
    • Fogli, A.1    Boespflug-Tanguy, O.2
  • 8
    • 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 H.J., and Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 24 (1993) 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
  • 11
    • 18344386777 scopus 로고    scopus 로고
    • Subunits of the translation initiation factor eIF2B are mutated in leukoencephalopathy with vanishing white matter
    • Leegwater P.A., Vermeulen G., Konst A.A., Naidu S., Mulders J., Visser A., et al. Subunits of the translation initiation factor eIF2B are mutated in leukoencephalopathy with vanishing white matter. Nat Genet 29 (2001) 383-388
    • (2001) Nat Genet , vol.29 , pp. 383-388
    • Leegwater, P.A.1    Vermeulen, G.2    Konst, A.A.3    Naidu, S.4    Mulders, J.5    Visser, A.6
  • 12
    • 0036156978 scopus 로고    scopus 로고
    • Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
    • Van der Knaap M.S., Leegwater P.A., Konst A.A., Visser A., Naidu S., Oudejans C.B., et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 51 (2002) 264-270
    • (2002) Ann Neurol , vol.51 , pp. 264-270
    • Van der Knaap, M.S.1    Leegwater, P.A.2    Konst, A.A.3    Visser, A.4    Naidu, S.5    Oudejans, C.B.6
  • 13
    • 0036791923 scopus 로고    scopus 로고
    • Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
    • Fogli A., Wong K., Eymard-Pierre E., Wenger J., Bouffard J.P., Goldin E., et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 52 (2002) 506-510
    • (2002) Ann Neurol , vol.52 , pp. 506-510
    • Fogli, A.1    Wong, K.2    Eymard-Pierre, E.3    Wenger, J.4    Bouffard, J.P.5    Goldin, E.6
  • 16
    • 2342547021 scopus 로고    scopus 로고
    • Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5
    • Ohtake H., Shimohata T., Terajima K., Kimura T., Jo R., Kaseda R., et al. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 62 (2004) 1601-1603
    • (2004) Neurology , vol.62 , pp. 1601-1603
    • Ohtake, H.1    Shimohata, T.2    Terajima, K.3    Kimura, T.4    Jo, R.5    Kaseda, R.6
  • 18
    • 37249077933 scopus 로고    scopus 로고
    • Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor
    • Peter L., Niel F., Catenoix H., Jung J., Demarguay J., Petiot P., et al. Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor. Eur J Neurol 15 (2008) 94-97
    • (2008) Eur J Neurol , vol.15 , pp. 94-97
    • Peter, L.1    Niel, F.2    Catenoix, H.3    Jung, J.4    Demarguay, J.5    Petiot, P.6
  • 19
    • 0036087070 scopus 로고    scopus 로고
    • Vanishing white matter and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype
    • Boltshauser E., Barth P.G., Troost D., Martin E., and Stallmach T. Vanishing white matter and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype. Neuropediatrics 33 (2002) 57-62
    • (2002) Neuropediatrics , vol.33 , pp. 57-62
    • Boltshauser, E.1    Barth, P.G.2    Troost, D.3    Martin, E.4    Stallmach, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.