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Journal Abstract Search

219 related items for PubMed ID: 10689937

  • 1. [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
    [Abstract] [Full Text] [Related]

  • 2. [Emery-Dreifuss muscular dystrophy].
    Kubo S, Tsukahara T, Arahata K.
    Nihon Rinsho; 1997 Dec; 55(12):3186-9. PubMed ID: 9436433
    [Abstract] [Full Text] [Related]

  • 3. Emery-Dreifuss muscular dystrophy.
    Helbling-Leclerc A, Bonne G, Schwartz K.
    Eur J Hum Genet; 2002 Mar; 10(3):157-61. PubMed ID: 11973618
    [Abstract] [Full Text] [Related]

  • 4. [The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene].
    Onishi Y, Higuchi J, Ogawa T, Namekawa A, Hayashi H, Odakura H, Goto K, Hayashi YK.
    Rinsho Shinkeigaku; 2002 Feb; 42(2):140-4. PubMed ID: 12424964
    [Abstract] [Full Text] [Related]

  • 5. Novel mutations in the emerin gene in Israeli families.
    Nevo Y, Ahituv S, Yaron Y, Kedmi M, Shomrat R, Legum C, Orr-Urtreger A.
    Hum Mutat; 2001 Jun; 17(6):522. PubMed ID: 11385714
    [Abstract] [Full Text] [Related]

  • 6. Emery-Dreifuss muscular dystrophy.
    Zacharias AS, Wagener ME, Warren ST, Hopkins LC.
    Semin Neurol; 1999 Jun; 19(1):67-79. PubMed ID: 10711990
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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; 129(Pt 4):996-1013. PubMed ID: 16478798
    [Abstract] [Full Text] [Related]

  • 9. 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; 41(4):389-95. PubMed ID: 11063761
    [Abstract] [Full Text] [Related]

  • 10. 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; 30(3):161-3. PubMed ID: 10480214
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun; 9(6):526-30. PubMed ID: 9195226
    [Abstract] [Full Text] [Related]

  • 12. CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy.
    Tsukahara T, Tsujino S, Arahata K.
    Muscle Nerve; 2002 Jun; 25(6):898-901. PubMed ID: 12115980
    [Abstract] [Full Text] [Related]

  • 13. X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization.
    Paradas C, Márquez C, Gallardo E, De Luna N, Chinchón I, Recan D, Jiménez MD, Illa I.
    Muscle Nerve; 2005 Jul; 32(1):61-5. PubMed ID: 15880484
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

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  • 16. 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
    [Abstract] [Full Text] [Related]

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  • 18. Emery dreifuss muscular dystrophy: a clinico-pathological study.
    Gayathri N, Taly AB, Sinha S, Suresh TG, Gorai D.
    Neurol India; 2006 Jun 12; 54(2):197-9. PubMed ID: 16804269
    [Abstract] [Full Text] [Related]

  • 19. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
    Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.
    Ann Neurol; 2000 Aug 12; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

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