메뉴 건너뛰기




Volumn 41, Issue 5, 1997, Pages 686-689

Allelic heterogeneity of mediterranean myoclonus and the cystatin B gene

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN; DNA;

EID: 0031007014     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410520     Document Type: Article
Times cited : (6)

References (18)
  • 1
    • 0027314930 scopus 로고
    • Progressive myoclonus epilepsies: Clinical and genetic aspects
    • Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993;34(suppl 3):S19-S30
    • (1993) Epilepsia , vol.34 , Issue.3 SUPPL.
    • Berkovic, S.F.1    Cochius, J.2    Andermann, E.3    Andermann, F.4
  • 2
    • 0025098965 scopus 로고
    • The Ramsay-Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus
    • Genton P, Michelucci R, Tassinari CA, Roger J. The Ramsay-Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol Scand 1990;81:8-15
    • (1990) Acta Neurol Scand , vol.81 , pp. 8-15
    • Genton, P.1    Michelucci, R.2    Tassinari, C.A.3    Roger, J.4
  • 3
    • 0022566924 scopus 로고
    • Baltic myoclonus
    • Koskiniemi ML. Baltic myoclonus. Adv Neurol 1986;43:57-63
    • (1986) Adv Neurol , vol.43 , pp. 57-63
    • Koskiniemi, M.L.1
  • 4
    • 0020561801 scopus 로고
    • "Baltic" myoclonus epilepsy: Hereditary disorder of childhood made worse by phenytoin
    • Eldridge R, Iivanainen M, Stern R, et al. "Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet 1983;2:838-842
    • (1983) Lancet , vol.2 , pp. 838-842
    • Eldridge, R.1    Iivanainen, M.2    Stern, R.3
  • 5
    • 0025909848 scopus 로고
    • Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22
    • Lehesjoki AE, Koskiniemi M, Sistonen P, et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 1991;88:3696-3699
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 3696-3699
    • Lehesjoki, A.E.1    Koskiniemi, M.2    Sistonen, P.3
  • 6
    • 0027108688 scopus 로고
    • Identical genetic locus for Baltic and Mediterranean myoclonus
    • Malafosse A, Lehesjoki AE, Genton P, et al. Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 1992; 339:1080-1081
    • (1992) Lancet , vol.339 , pp. 1080-1081
    • Malafosse, A.1    Lehesjoki, A.E.2    Genton, P.3
  • 7
    • 0027236091 scopus 로고
    • Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping
    • Lehesjoki AE, Koskiniemi M, Norio R, et al. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 1993;8:1229-1234
    • (1993) Hum Mol Genet , vol.8 , pp. 1229-1234
    • Lehesjoki, A.E.1    Koskiniemi, M.2    Norio, R.3
  • 8
    • 13344269666 scopus 로고    scopus 로고
    • Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
    • Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-1734
    • (1996) Science , vol.271 , pp. 1731-1734
    • Pennacchio, L.A.1    Lehesjoki, A.E.2    Stone, N.E.3
  • 10
    • 0023698665 scopus 로고
    • Isolation and mapping of a polymorphic DNA sequence (pMCT15) on chromosome 21 (D21S113)
    • Nakamura Y, Carlson M, Krapcho K, et al. Isolation and mapping of a polymorphic DNA sequence (pMCT15) on chromosome 21 (D21S113). Nucleic Acids Res 1988;16:9882
    • (1988) Nucleic Acids Res , vol.16 , pp. 9882
    • Nakamura, Y.1    Carlson, M.2    Krapcho, K.3
  • 11
    • 0027460423 scopus 로고
    • Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region
    • Avramopoulos D, Cox T, Kraus JP, et al. Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region. Hum Genet 1993;90:566-568
    • (1993) Hum Genet , vol.90 , pp. 566-568
    • Avramopoulos, D.1    Cox, T.2    Kraus, J.P.3
  • 12
    • 1842290353 scopus 로고
    • Restriction fragment length polymorphic probes in the analysis of Down's syndrome
    • Millington-Ward A, Wassenaar ALM, Pearson PL. Restriction fragment length polymorphic probes in the analysis of Down's syndrome. Cytogenet Cell Genet 1985;40:699
    • (1985) Cytogenet Cell Genet , vol.40 , pp. 699
    • Millington-Ward, A.1    Wassenaar, A.L.M.2    Pearson, P.L.3
  • 13
    • 0025014992 scopus 로고
    • An interspeced repeated sequence specific for human subtelomeric regions
    • Rouyer F, de la Chapelle A, Andersson M, Weissenbach J. An interspeced repeated sequence specific for human subtelomeric regions. EMBO J 1990;9:505-514
    • (1990) EMBO J , vol.9 , pp. 505-514
    • Rouyer, F.1    De La Chapelle, A.2    Andersson, M.3    Weissenbach, J.4
  • 14
    • 0025847727 scopus 로고
    • Dinucleotide repeat polymorphism at the human liver-type 6 phosphofructokinase (PFKL) gene
    • Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Dinucleotide repeat polymorphism at the human liver-type 6 phosphofructokinase (PFKL) gene. Nucleic Acids Res 1991;19:2517
    • (1991) Nucleic Acids Res , vol.19 , pp. 2517
    • Polymeropoulos, M.H.1    Rath, D.S.2    Xiao, H.3    Merril, C.R.4
  • 15
    • 0025974925 scopus 로고
    • A genetic linkage map of 27 markers on human chromosome 21
    • Petersen MB, Slaugenhaupt SA, Lewis JG, et al. A genetic linkage map of 27 markers on human chromosome 21. Genomics 1991;9:407-419
    • (1991) Genomics , vol.9 , pp. 407-419
    • Petersen, M.B.1    Slaugenhaupt, S.A.2    Lewis, J.G.3
  • 16
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM, Ott J. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2    Ott, J.3
  • 17
    • 0028964373 scopus 로고
    • Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3
    • Yamakawa K, Mitchell S, Hubert R, et al. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet 1995;4:709-716
    • (1995) Hum Mol Genet , vol.4 , pp. 709-716
    • Yamakawa, K.1    Mitchell, S.2    Hubert, R.3
  • 18
    • 25644461378 scopus 로고    scopus 로고
    • Identification of mutations in cystatin B, the gene responsible for progressive myoclonus epilepsy (EPM1)
    • Lalioti MD, Mirotsou M, Buresi C, et al. Identification of mutations in cystatin B, the gene responsible for progressive myoclonus epilepsy (EPM1). Am J Hum Genet 1996;59:A267
    • (1996) Am J Hum Genet , vol.59
    • Lalioti, M.D.1    Mirotsou, M.2    Buresi, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.