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Journal Abstract Search

168 related items for PubMed ID: 9195226

  • 21. 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]

  • 22. 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; 33(1):10-4. PubMed ID: 11930270
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. [DNA-diagnosis of Emery-Dreifuss muscular dystrophy].
    Tverskaia SM, Rudenskaia GE, Chukhrova AL, Poliakov AV.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2003 Jul; 103(6):25-8. PubMed ID: 12872622
    [Abstract] [Full Text] [Related]

  • 25.
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  • 26. 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]

  • 27. 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]

  • 28. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.
    Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M.
    Hum Mol Genet; 1995 Oct; 4(10):2003-4. PubMed ID: 8595433
    [No Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.
    Holt I, Ostlund C, Stewart CL, Man Nt, Worman HJ, Morris GE.
    J Cell Sci; 2003 Jul 15; 116(Pt 14):3027-35. PubMed ID: 12783988
    [Abstract] [Full Text] [Related]

  • 31. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Arch Neurol; 2007 Jul 15; 64(7):1038-41. PubMed ID: 17620497
    [Abstract] [Full Text] [Related]

  • 32. [X-linked Emery-Dreifuss muscular dystrophy(X-EDMD)].
    Hayashi YK.
    Ryoikibetsu Shokogun Shirizu; 2001 Jul 15; (35):31-4. PubMed ID: 11555938
    [No Abstract] [Full Text] [Related]

  • 33. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
    Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D.
    Nat Genet; 1994 Dec 15; 8(4):323-7. PubMed ID: 7894480
    [Abstract] [Full Text] [Related]

  • 34. Isolation and characterization of the complete mouse emerin gene.
    Small K, Wagener M, Warren ST.
    Mamm Genome; 1997 May 15; 8(5):337-41. PubMed ID: 9107678
    [Abstract] [Full Text] [Related]

  • 35. Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.
    Holaska JM, Rais-Bahrami S, Wilson KL.
    Hum Mol Genet; 2006 Dec 01; 15(23):3459-72. PubMed ID: 17067998
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 8(2):72-6. PubMed ID: 9608559
    [Abstract] [Full Text] [Related]

  • 37. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
    Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M.
    Eur J Hum Genet; 2000 Feb 01; 8(2):125-9. PubMed ID: 10757644
    [Abstract] [Full Text] [Related]

  • 38. 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 01; 111 ( Pt 6)():781-92. PubMed ID: 9472006
    [Abstract] [Full Text] [Related]

  • 39. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 40. Emery dreifuss muscular dystrophy: a clinico-pathological study.
    Gayathri N, Taly AB, Sinha S, Suresh TG, Gorai D.
    Neurol India; 2006 Jun 01; 54(2):197-9. PubMed ID: 16804269
    [Abstract] [Full Text] [Related]

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