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Journal Abstract Search

222 related items for PubMed ID: 9536090

  • 1. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
    Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE.
    Hum Mol Genet; 1998 May; 7(5):855-64. PubMed ID: 9536090
    [Abstract] [Full Text] [Related]

  • 2. 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; 104(3):262-8. PubMed ID: 10323252
    [Abstract] [Full Text] [Related]

  • 3. 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; 9(6):526-30. PubMed ID: 9195226
    [Abstract] [Full Text] [Related]

  • 4. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
    Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D.
    Ann Neurol; 1997 Aug; 42(2):249-53. PubMed ID: 9266737
    [Abstract] [Full Text] [Related]

  • 5. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.
    Funakoshi M, Tsuchiya Y, Arahata K.
    Neuromuscul Disord; 1999 Mar; 9(2):108-14. PubMed ID: 10220866
    [Abstract] [Full Text] [Related]

  • 6. Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.
    Hoeltzenbein M, Karow T, Zeller JA, Warzok R, Wulff K, Zschiesche M, Herrmann FH, Grosse-Heitmeyer W, Wehnert MS.
    Neuromuscul Disord; 1999 May; 9(3):166-70. PubMed ID: 10382910
    [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; 9(3):159-65. PubMed ID: 10382909
    [Abstract] [Full Text] [Related]

  • 8. [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]

  • 9. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.
    Fairley EA, Kendrick-Jones J, Ellis JA.
    J Cell Sci; 1999 Aug; 112 ( Pt 15)():2571-82. PubMed ID: 10393813
    [Abstract] [Full Text] [Related]

  • 10. Mutation analysis in Emery-Dreifuss muscular dystrophy.
    Nevo Y, Al-Lozi M, Parsadanian AS, Elliott JL, Connolly AM, Pestronk A.
    Pediatr Neurol; 1999 Jul; 21(1):456-9. PubMed ID: 10428430
    [Abstract] [Full Text] [Related]

  • 11. Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy.
    Wolff N, Gilquin B, Courchay K, Callebaut I, Worman HJ, Zinn-Justin S.
    FEBS Lett; 2001 Jul 20; 501(2-3):171-6. PubMed ID: 11470279
    [Abstract] [Full Text] [Related]

  • 12. 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 20; 129(Pt 4):996-1013. PubMed ID: 16478798
    [Abstract] [Full Text] [Related]

  • 13. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
    Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, Manilal S, Recan D, Llense S, Taylor J, Morris GE, Dubowitz V.
    Neuromuscul Disord; 1998 Apr 20; 8(2):72-6. PubMed ID: 9608559
    [Abstract] [Full Text] [Related]

  • 14. Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy.
    Niebroj-Dobosz I, Fidzianska A, Hausmanowa-Petrusewicz I.
    Acta Myol; 2003 Sep 20; 22(2):52-7. PubMed ID: 14959564
    [Abstract] [Full Text] [Related]

  • 15. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.
    Ellis JA, Craxton M, Yates JR, Kendrick-Jones J.
    J Cell Sci; 1998 Mar 20; 111 ( Pt 6)():781-92. PubMed ID: 9472006
    [Abstract] [Full Text] [Related]

  • 16. 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 20; 12(3):254-9. PubMed ID: 8589715
    [Abstract] [Full Text] [Related]

  • 17. A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.
    de Koning Gans PA, Ginjaar I, Bakker E, Yates JR, den Dunnen JT.
    Neuromuscul Disord; 1999 Jun 20; 9(4):247-50. PubMed ID: 10399752
    [Abstract] [Full Text] [Related]

  • 18. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
    Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D.
    Hum Mol Genet; 1997 Dec 20; 6(13):2257-64. PubMed ID: 9361031
    [Abstract] [Full Text] [Related]

  • 19. Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression.
    Ellis JA, Brown CA, Tilley LD, Kendrick-Jones J, Spence JE, Yates JR.
    Neuromuscul Disord; 2000 Jan 20; 10(1):24-30. PubMed ID: 10677860
    [Abstract] [Full Text] [Related]

  • 20. Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.
    Manilal S, Sewry CA, Man N, Muntoni F, Morris GE.
    Neuromuscul Disord; 1997 Jan 20; 7(1):63-6. PubMed ID: 9132142
    [Abstract] [Full Text] [Related]

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