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Journal Abstract Search

168 related items for PubMed ID: 9195226

  • 1. Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
    Wulff K, Parrish JE, Herrmann FH, Wehnert M.
    Hum Mutat; 1997; 9(6):526-30. PubMed ID: 9195226
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  • 2. Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis.
    Wulff K, Ebener U, Wehnert CS, Ward PA, Reuner U, Hiebsch W, Herrmann FH, Wehnert M.
    Dis Markers; 1997 Apr; 13(2):77-86. PubMed ID: 9160182
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  • 4. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
    Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick-Jones J, Ellis JA.
    Neuromuscul Disord; 1999 May; 9(3):159-65. PubMed ID: 10382909
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  • 5. [A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy].
    Hasegawa T, Kobayashi K, Arahata K, Itoyama Y.
    Rinsho Shinkeigaku; 1999 Nov; 39(11):1138-43. PubMed ID: 10689937
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  • 7. A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene.
    Ichikawa Y, Watanabe M, Kowa H, Murayama S, Mizuno T, Komuro I, Ishiki R, Goto J, Kanazawa I.
    Ann Neurol; 1997 Mar; 41(3):399-402. PubMed ID: 9066362
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  • 8. Emery-Dreifuss muscular dystrophy.
    Zacharias AS, Wagener ME, Warren ST, Hopkins LC.
    Semin Neurol; 1999 Mar; 19(1):67-79. PubMed ID: 10711990
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  • 10. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
    Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K.
    Nat Genet; 1996 Mar; 12(3):254-9. PubMed ID: 8589715
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  • 11. [Emery-Dreifuss muscular dystrophy].
    Kubo S, Tsukahara T, Arahata K.
    Nihon Rinsho; 1997 Dec; 55(12):3186-9. PubMed ID: 9436433
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  • 12. How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
    Holt I, Clements L, Manilal S, Morris GE.
    Biochem Biophys Res Commun; 2001 Oct 12; 287(5):1129-33. PubMed ID: 11587540
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  • 13. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.
    Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C, Shneiderman B, Escolar D, Chen YW, Winokur ST, Pachman LM, Fan C, Mandler R, Nevo Y, Gordon E, Zhu Y, Dong Y, Wang Y, Hoffman EP.
    Brain; 2006 Apr 12; 129(Pt 4):996-1013. PubMed ID: 16478798
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  • 14. Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.
    Canki-Klain N, Récan D, Milicić D, Llense S, Leturcq F, Deburgrave N, Kaplan JC, Debevec M, Zurak N.
    Croat Med J; 2000 Dec 12; 41(4):389-95. PubMed ID: 11063761
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  • 16. Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
    Fujimoto S, Ishikawa T, Saito M, Wada Y, Wada I, Arahata K, Nonaka I.
    Neuropediatrics; 1999 Jun 12; 30(3):161-3. PubMed ID: 10480214
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  • 20. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
    Ellis JA, Yates JR, Kendrick-Jones J, Brown CA.
    Hum Genet; 1999 Mar 12; 104(3):262-8. PubMed ID: 10323252
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