메뉴 건너뛰기




Volumn 45, Issue 6, 1999, Pages 809-812

Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the α-tocopherol transfer protein gene

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN; GENE PRODUCT;

EID: 0033015723     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199906)45:6<809::AID-ANA19>3.0.CO;2-9     Document Type: Article
Times cited : (33)

References (18)
  • 1
    • 0028876572 scopus 로고
    • Ataxia with isolated vitamin e deficiency is caused by mutations in the α-tocopherol transfer protein
    • Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nat Genet 1995;9:141-145
    • (1995) Nat Genet , vol.9 , pp. 141-145
    • Ouahchi, K.1    Arita, M.2    Kayden, H.3
  • 2
    • 0029936866 scopus 로고    scopus 로고
    • Human α-tocopherol transfer protein: Gene structure and mutations in familial vitamin e deficiency
    • Hentati A, Deng H-X, Hung W-Y, et al. Human α-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. Ann Neurol 1996;39:295-300
    • (1996) Ann Neurol , vol.39 , pp. 295-300
    • Hentati, A.1    Deng, H.-X.2    Hung, W.-Y.3
  • 3
    • 0028871764 scopus 로고
    • Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol-transfer protein
    • Gotoda T, Arita M, Arai H, et al. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol-transfer protein. N Engl J Med 1995;333:1313-1318
    • (1995) N Engl J Med , vol.333 , pp. 1313-1318
    • Gotoda, T.1    Arita, M.2    Arai, H.3
  • 4
    • 0030850990 scopus 로고    scopus 로고
    • α-Tocopherol transfer protein gene: Exon skipping of all transcripts causes ataxia
    • Tamaru Y, Hirano M, Kusaka H, et al. α-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. Neurology 1997;49:584-588
    • (1997) Neurology , vol.49 , pp. 584-588
    • Tamaru, Y.1    Hirano, M.2    Kusaka, H.3
  • 5
    • 17144465611 scopus 로고    scopus 로고
    • Ataxia with isolated vitamin e deficiency and retinitis pigmencosa
    • Shimohata T, Date H, Ishiguro H, et al. Ataxia with isolated vitamin E deficiency and retinitis pigmencosa. Ann Neurol 1998;43:273
    • (1998) Ann Neurol , vol.43 , pp. 273
    • Shimohata, T.1    Date, H.2    Ishiguro, H.3
  • 6
    • 0031889483 scopus 로고    scopus 로고
    • Ataxia with isolated vitamin e deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
    • Cavalier L, Ouahchi K, Kayden HJ, et al. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 1998;62:301-310
    • (1998) Am J Hum Genet , vol.62 , pp. 301-310
    • Cavalier, L.1    Ouahchi, K.2    Kayden, H.J.3
  • 7
    • 0032145061 scopus 로고    scopus 로고
    • Electrophysiology and nerve biopsy: Comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin e deficiency
    • Zouari M, Feki M, Ben Hamida C, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromusc Disord 1998;8:416-425
    • (1998) Neuromusc Disord , vol.8 , pp. 416-425
    • Zouari, M.1    Feki, M.2    Ben Hamida, C.3
  • 8
    • 0025138431 scopus 로고
    • Impaired ability of patients with familial isolated vitamin e deficiency to incorporate α-tocopherol into lipoproteins secreted by the liver
    • Traber MG, Sokol RJ, Burton GW, et al. Impaired ability of patients with familial isolated vitamin E deficiency to incorporate α-tocopherol into lipoproteins secreted by the liver. J Clin Invest 1990;85:397-407
    • (1990) J Clin Invest , vol.85 , pp. 397-407
    • Traber, M.G.1    Sokol, R.J.2    Burton, G.W.3
  • 9
    • 0027464942 scopus 로고
    • Impaired discrimination between stereoisomers of α-tocopherol in patients with familial isolated vitamin e deficiency
    • Traber MG, Sokol RJ, Kohlschütter A, et al. Impaired discrimination between stereoisomers of α-tocopherol in patients with familial isolated vitamin E deficiency. J Lipid Res 1993;34: 201-210
    • (1993) J Lipid Res , vol.34 , pp. 201-210
    • Traber, M.G.1    Sokol, R.J.2    Kohlschütter, A.3
  • 11
    • 0027430101 scopus 로고
    • Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin e deficiency in two inbred Tunisian families
    • Ben Hamida M, Belal S, Sirugo G, et al. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology 1993;43:2179-2183
    • (1993) Neurology , vol.43 , pp. 2179-2183
    • Ben Hamida, M.1    Belal, S.2    Sirugo, G.3
  • 12
    • 0027514838 scopus 로고
    • Localization of Friedreich ataxia phenotype with selective vitamin e deficiency to chromosome 8q by homozygosity mapping
    • Ben Hamida C, Doerflinger N, Belal S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993;5:195-200
    • (1993) Nat Genet , vol.5 , pp. 195-200
    • Ben Hamida, C.1    Doerflinger, N.2    Belal, S.3
  • 13
    • 45449123054 scopus 로고
    • Isolated vitamin e deficiency in the absence of fat malabsorption-familial and sporadic cases: Characterization and investigation of causes
    • Sokol RJ, Kayden HJ, Bettis DB, et al. Isolated vitamin E deficiency in the absence of fat malabsorption-familial and sporadic cases: characterization and investigation of causes. J Lab Clin Med 1988;111:548-559
    • (1988) J Lab Clin Med , vol.111 , pp. 548-559
    • Sokol, R.J.1    Kayden, H.J.2    Bettis, D.B.3
  • 14
    • 0029081880 scopus 로고
    • Familial isolated vitamin e deficiency. Extensive study of a large family with a 5-year therapeutic follow-up
    • Amiel J, Maziere JC, Beucler I, et al. Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. J Inherit Metab Dis 1995;18:333-340
    • (1995) J Inherit Metab Dis , vol.18 , pp. 333-340
    • Amiel, J.1    Maziere, J.C.2    Beucler, I.3
  • 15
    • 0023194189 scopus 로고
    • Adult-onset spinocerebellar syndrome with idiopathic vitamin e deficiency
    • Yokota T, Wada Y, Furukawa T, et al. Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. Ann Neurol 1987;22:84-87
    • (1987) Ann Neurol , vol.22 , pp. 84-87
    • Yokota, T.1    Wada, Y.2    Furukawa, T.3
  • 16
    • 0030610585 scopus 로고    scopus 로고
    • 101Gln mutation of the α-tocopherol transfer protein gene
    • 101Gln mutation of the α-tocopherol transfer protein gene. Ann Neurol 1997;41: 826-832
    • (1997) Ann Neurol , vol.41 , pp. 826-832
    • Yokota, T.1    Shiojiri, T.2    Gotoda, T.3
  • 17
    • 0027489010 scopus 로고
    • Isolated vitamin e deficiency and progressive ataxia
    • Rayner RJ, Doran R, Roussounis SH. Isolated vitamin E deficiency and progressive ataxia. Arch Dis Child 1993;69:602-603
    • (1993) Arch Dis Child , vol.69 , pp. 602-603
    • Rayner, R.J.1    Doran, R.2    Roussounis, S.H.3
  • 18
    • 0030297985 scopus 로고    scopus 로고
    • Ataxia with isolated vitamin e deficiency in four siblings
    • Shorer Z, Parvari R, Brit G, et al. Ataxia with isolated vitamin E deficiency in four siblings. Pediatr Neurol 1996;15:340-343
    • (1996) Pediatr Neurol , vol.15 , pp. 340-343
    • Shorer, Z.1    Parvari, R.2    Brit, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.