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179 related items for PubMed ID: 11063761

  • 1. 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]

  • 2. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
    Sakata K, Shimizu M, Ino H, Yamaguchi M, Terai H, Fujino N, Hayashi K, Kaneda T, Inoue M, Oda Y, Fujita T, Kaku B, Kanaya H, Mabuchi H.
    Circulation; 2005 Jun 28; 111(25):3352-8. PubMed ID: 15967842
    [Abstract] [Full Text] [Related]

  • 3. [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 28; 39(11):1138-43. PubMed ID: 10689937
    [Abstract] [Full Text] [Related]

  • 4. 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 28; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 5. Emery-Dreifuss muscular dystrophy.
    Zacharias AS, Wagener ME, Warren ST, Hopkins LC.
    Semin Neurol; 1999 Aug 28; 19(1):67-79. PubMed ID: 10711990
    [Abstract] [Full Text] [Related]

  • 6. Emery dreifuss muscular dystrophy: a clinico-pathological study.
    Gayathri N, Taly AB, Sinha S, Suresh TG, Gorai D.
    Neurol India; 2006 Jun 28; 54(2):197-9. PubMed ID: 16804269
    [Abstract] [Full Text] [Related]

  • 7. 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 28; 9(3):159-65. PubMed ID: 10382909
    [Abstract] [Full Text] [Related]

  • 8. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
    Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F.
    Neuropediatrics; 2002 Feb 28; 33(1):10-4. PubMed ID: 11930270
    [Abstract] [Full Text] [Related]

  • 9. [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 28; 42(2):140-4. PubMed ID: 12424964
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 32(1):61-5. PubMed ID: 15880484
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 30(3):161-3. PubMed ID: 10480214
    [Abstract] [Full Text] [Related]

  • 12. Emery-Dreifuss muscular dystrophy.
    Helbling-Leclerc A, Bonne G, Schwartz K.
    Eur J Hum Genet; 2002 Mar 28; 10(3):157-61. PubMed ID: 11973618
    [Abstract] [Full Text] [Related]

  • 13. [Emery-Dreifuss muscular dystrophy].
    Kubo S, Tsukahara T, Arahata K.
    Nihon Rinsho; 1997 Dec 28; 55(12):3186-9. PubMed ID: 9436433
    [Abstract] [Full Text] [Related]

  • 14. 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 28; 41(3):399-402. PubMed ID: 9066362
    [Abstract] [Full Text] [Related]

  • 15. 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 Mar 28; 9(6):526-30. PubMed ID: 9195226
    [Abstract] [Full Text] [Related]

  • 16. Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology.
    Fidziańska A, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.
    Acta Neuropathol; 2004 Mar 28; 107(3):197-203. PubMed ID: 14712398
    [Abstract] [Full Text] [Related]

  • 17. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
    Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM.
    Hum Mol Genet; 2007 Dec 01; 16(23):2816-33. PubMed ID: 17761684
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 17(6):522. PubMed ID: 11385714
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 12(3):254-9. PubMed ID: 8589715
    [Abstract] [Full Text] [Related]

  • 20. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
    Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC.
    Brain; 2006 May 01; 129(Pt 5):1260-8. PubMed ID: 16585054
    [Abstract] [Full Text] [Related]

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