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Volumn 21, Issue 1, 1999, Pages 456-459

Mutation analysis in Emery-Dreifuss muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; EMERIN;

EID: 0032989201     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(99)00023-5     Document Type: Article
Times cited : (3)

References (23)
  • 1
    • 0001450358 scopus 로고
    • Survival in X-chromosomal muscular dystrophy
    • Dreifuss F.E., Hogan G.R. Survival in X-chromosomal muscular dystrophy. Neurology. 11:1961;734-737.
    • (1961) Neurology , vol.11 , pp. 734-737
    • Dreifuss, F.E.1    Hogan, G.R.2
  • 2
  • 4
    • 0023634621 scopus 로고
    • X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifusstype)
    • Emery A.E. X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifusstype). Clin Genet. 32:1987;360-367.
    • (1987) Clin Genet , vol.32 , pp. 360-367
    • Emery, A.E.1
  • 5
    • 0024419522 scopus 로고
    • Emery-Dreifuss syndrome
    • Emery A.E. Emery-Dreifuss syndrome. J Med Genet. 26:1989;637-641.
    • (1989) J Med Genet , vol.26 , pp. 637-641
    • Emery, A.E.1
  • 6
    • 0024380341 scopus 로고
    • Emery-Dreifuss muscular dystrophy and other related disorders
    • Emery A.E. Emery-Dreifuss muscular dystrophy and other related disorders. Br Med Bull. 45:1989;772-787.
    • (1989) Br Med Bull , vol.45 , pp. 772-787
    • Emery, A.E.1
  • 7
    • 0024582633 scopus 로고
    • Follow-up study of cardiac involvement in Emery-Dreifuss muscular dystrophy
    • Yoshioka M., Saida K., Itagaki Y., Kamiya T. Follow-up study of cardiac involvement in Emery-Dreifuss muscular dystrophy. Arch Dis Child. 64:1989;713-715.
    • (1989) Arch Dis Child , vol.64 , pp. 713-715
    • Yoshioka, M.1    Saida, K.2    Itagaki, Y.3    Kamiya, T.4
  • 8
    • 0027374149 scopus 로고
    • Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy
    • Fishbein M.C., Siegel R.J., Thompson C.E., Hopkins L.C. Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med. 119:1993;900-905.
    • (1993) Ann Intern Med , vol.119 , pp. 900-905
    • Fishbein, M.C.1    Siegel, R.J.2    Thompson, C.E.3    Hopkins, L.C.4
  • 12
    • 0021702524 scopus 로고
    • A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis
    • Takamoto K., Hirose K., Uono M., Nonaka I. A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis. Arch Neurol. 41:1984;1292-1293.
    • (1984) Arch Neurol , vol.41 , pp. 1292-1293
    • Takamoto, K.1    Hirose, K.2    Uono, M.3    Nonaka, I.4
  • 13
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S., Maestrini E., Rivella S., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 8:1994;323-327.
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 14
    • 0028865862 scopus 로고
    • Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
    • Bione S., Small K., Aksmanovic V.M.A., et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet. 4:1995;1859-1863.
    • (1995) Hum Mol Genet , vol.4 , pp. 1859-1863
    • Bione, S.1    Small, K.2    Aksmanovic, V.M.A.3
  • 15
    • 0028892092 scopus 로고
    • Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
    • Klauck S.M., Wilgenbus P., Yates J.R.W., Muller C.R., Poustka A. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 4:1995;1853-1857.
    • (1995) Hum Mol Genet , vol.4 , pp. 1853-1857
    • Klauck, S.M.1    Wilgenbus, P.2    Yates, J.R.W.3    Muller, C.R.4    Poustka, A.5
  • 16
    • 0028892101 scopus 로고
    • SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
    • Nigro V., Bruni P., Ciccodicola A., et al. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy Definition of a small C-terminal region required for emerin function . Hum Mol Genet. 4:1995;2003-2004.
    • (1995) Hum Mol Genet , vol.4 , pp. 2003-2004
    • Nigro, V.1    Bruni, P.2    Ciccodicola, A.3
  • 18
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem. 162:1987;156-159.
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 19
    • 0031935231 scopus 로고    scopus 로고
    • Steroid responsive myopathy with deficient chondroitin sulfate C in skeletal muscle connective tissue
    • Al-Lozi M.T., Hemelt V.B., Pestronk A. Steroid responsive myopathy with deficient chondroitin sulfate C in skeletal muscle connective tissue. Neurology. 50:1998;526-529.
    • (1998) Neurology , vol.50 , pp. 526-529
    • Al-Lozi, M.T.1    Hemelt, V.B.2    Pestronk, A.3
  • 20
    • 0023949032 scopus 로고
    • Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis
    • Voit T., Krogmann O., Lenard H.G., Neuen-Jacob E. Emery-Dreifuss muscular dystrophy Disease spectrum and differential diagnosis . Neuropediatrics. 19:1988;62-71.
    • (1988) Neuropediatrics , vol.19 , pp. 62-71
    • Voit, T.1    Krogmann, O.2    Lenard, H.G.3    Neuen-Jacob, E.4
  • 21
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano A., Koga R., Ogawa M., et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet. 12:1996;254-259.
    • (1996) Nat Genet , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3
  • 22
    • 0031056554 scopus 로고    scopus 로고
    • A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy
    • Ichikawa Y., Watanabe M., Kowa H., et al. A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy. Ann Neurol. 41:1997;399-402.
    • (1997) Ann Neurol , vol.41 , pp. 399-402
    • Ichikawa, Y.1    Watanabe, M.2    Kowa, H.3
  • 23
    • 0031005848 scopus 로고    scopus 로고
    • Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
    • Small K., Iber J., Warren S.T. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet. 16:1997;96-100.
    • (1997) Nat Genet , vol.16 , pp. 96-100
    • Small, K.1    Iber, J.2    Warren, S.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.