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Volumn 10, Issue 5, 1997, Pages 421-425

Emery-Dreifuss syndrome

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; THYMOPOIETIN;

EID: 0030802651     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199710000-00011     Document Type: Review
Times cited : (22)

References (26)
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    • Yates JRW: 43rd ENMC international workshop on Emery-Dreifuss muscular dystrophy, 22 June 1996, Naarden, The Netherlands. Neuromusc Disord 1997, 7:67-69. During the preparation of this manuscript, the workshop report summarizing the latest research progress on EDMD was published.
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    • Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease
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  • 6
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    • Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?
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  • 11
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  • 12
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    • Nigro, V.1    Bruni, P.2    Ciccodicola, A.3    Politano, L.4    Nigro, G.5    Piluso, G.6    Cappa, V.7    Covone, A.E.8    Romeo, G.9    D'Urso, M.10
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  • 14
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    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S, Nguyen TM, Sewry CA, Morris GE: The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5:801-808. A panel of monoclonal antibodies against emerin was established, and they reported essentially the same results as [16**]. Rabbit tissues were also used for biochemical analyses.
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    • Manilal, S.1    Nguyen, T.M.2    Sewry, C.A.3    Morris, G.E.4
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    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
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    • Nagano, A.1    Koga, R.2    Ogawa, M.3    Kurano, Y.4    Kawada, J.5    Okada, R.6    Hayashi, Y.K.7    Tsukahara, T.8    Arahata, K.9
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    • Manilal S, Sewry CA, Nguyen TM, Muntoni F, Morris GE: Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies. Neuromusc Disord 1997, 7:63-66. The authors showed that protein analysis of emerin was similarly performed with easily obtainable sources, such as leukocytes and skin biopsy samples.
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  • 24
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    • Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
    • Small K, Iber J, Warren T: Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nature Genet 1997, 15:96-99. The complete deletion of emerin gene was found to be caused by the mispairing and recombination of large inverted repeats.
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    • Small, K.1    Iber, J.2    Warren, T.3
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    • Isolation and characterization of the complete mouse emerin gene
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    • (1997) Mammalian Genome , vol.8 , pp. 337-341
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  • 26
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    • A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene
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    • (1997) Ann Neurol , vol.41 , pp. 399-402
    • Ichikawa, Y.1    Watanabe, M.2    Kowa, H.3    Murayama, S.4    Mizuno, T.5    Komuro, I.6    Ishiki, R.7    Goto, J.8    Kanazawa, I.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.