메뉴 건너뛰기




Volumn 111, Issue 2, 2002, Pages 214-218

Megalencephalic leukoencephalopathy with subcortical cysts; A founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN CORTEX LESION; BRAIN CYST; COMPARATIVE STUDY; CONTROLLED STUDY; FAMILIAL INCIDENCE; FEMALE; GENE MUTATION; GENETIC DIFFERENCE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; ISRAEL; JEW; LEUKOENCEPHALOPATHY; LIBYAN ARAB JAMAHIRIYA; MAJOR CLINICAL STUDY; MALE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; MULTIGENE FAMILY; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL;

EID: 0036705659     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0770-y     Document Type: Article
Times cited : (29)

References (14)
  • 1
    • 0035205389 scopus 로고    scopus 로고
    • Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
    • Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (2001) Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69:1218-1224
    • (2001) Am J Hum Genet , vol.69 , pp. 1218-1224
    • Anikster, Y.1    Kleta, R.2    Shaag, A.3    Gahl, W.A.4    Elpeleg, O.5
  • 4
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 5
    • 0000347516 scopus 로고
    • Changing marriage systems in the Jewish communitis of Israel
    • Goldshmidt E, Ronen A, Ronen A (1960) Changing marriage systems in the Jewish communitis of Israel. Ann Hum Genet 24:191-204
    • (1960) Ann Hum Genet , vol.24 , pp. 191-204
    • Goldshmidt, E.1    Ronen, A.2    Ronen, A.3
  • 6
    • 0029823879 scopus 로고    scopus 로고
    • Leukoencephalopathy, megalencephaly, and mild clinical course: A recently individualized familial leukodystrophy. Report on five new cases
    • Goutieres F, Boulloche J, Bourgeois M, Aicardi J (1996) Leukoencephalopathy, megalencephaly, and mild clinical course: A recently individualized familial leukodystrophy. Report on five new cases. J Child Neurol 11:439-444
    • (1996) J Child Neurol , vol.11 , pp. 439-444
    • Goutieres, F.1    Boulloche, J.2    Bourgeois, M.3    Aicardi, J.4
  • 8
    • 0030753901 scopus 로고    scopus 로고
    • Cystic leukoencephalopathy in a megalencephalic child: Clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings
    • Mejaski-Bosnjak V, Besenski N, Brockmann K, Pouwels PJ, Frahm J, Hanefeld FA (1997) Cystic leukoencephalopathy in a megalencephalic child: Clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings. Pediatr Neurol 16:347-350
    • (1997) Pediatr Neurol , vol.16 , pp. 347-350
    • Mejaski-Bosnjak, V.1    Besenski, N.2    Brockmann, K.3    Pouwels, P.J.4    Frahm, J.5    Hanefeld, F.A.6
  • 10
    • 0036150582 scopus 로고    scopus 로고
    • A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts
    • Shinar Y, Ben-Zeev B, Brand N, Lahat H, Gross-Zur V, MacGregor D, Bahan T, Kastner DL, Pras E (2002) A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts. J Med Genet 39:54-57
    • (2002) J Med Genet , vol.39 , pp. 54-57
    • Shinar, Y.1    Ben-Zeev, B.2    Brand, N.3    Lahat, H.4    Gross-Zur, V.5    MacGregor, D.6    Bahan, T.7    Kastner, D.L.8    Pras, E.9
  • 11
    • 0031976193 scopus 로고    scopus 로고
    • Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases
    • Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B (1998) Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases. Brain Dev 20:142-153
    • (1998) Brain Dev , vol.20 , pp. 142-153
    • Topcu, M.1    Saatci, I.2    Topcuoglu, M.A.3    Kose, G.4    Kunak, B.5
  • 14
    • 0029973244 scopus 로고    scopus 로고
    • Histopathology of an infantile onset spongiform leukoencephalopathy with a discrepantly mild clinical course
    • Van Der Knaap MS, Barth PG, Vrensen GF, Valk J (1996) Histopathology of an infantile onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropath 92:206-212
    • (1996) Acta Neuropath , vol.92 , pp. 206-212
    • Van Der Knaap, M.S.1    Barth, P.G.2    Vrensen, G.F.3    Valk, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.