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Journal Abstract Search

318 related items for PubMed ID: 11792810

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  • 23. Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.
    Ellis JA.
    Cell Mol Life Sci; 2006 Dec; 63(23):2702-9. PubMed ID: 17013557
    [Abstract] [Full Text] [Related]

  • 24. Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
    Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.
    J Hum Genet; 2002 Dec; 47(5):225-8. PubMed ID: 12032588
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  • 25. Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology.
    Maraldi NM, Lattanzi G, Sabatelli P, Ognibene A, Columbaro M, Capanni C, Rutigliano C, Mattioli E, Squarzoni S.
    Eur J Histochem; 2003 Dec; 47(1):3-16. PubMed ID: 12685553
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  • 26. The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.
    Holt I, Clements L, Manilal S, Brown SC, Morris GE.
    Eur J Hum Genet; 2001 Mar; 9(3):204-8. PubMed ID: 11313760
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  • 27. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
    Haraguchi T, Holaska JM, Yamane M, Koujin T, Hashiguchi N, Mori C, Wilson KL, Hiraoka Y.
    Eur J Biochem; 2004 Mar; 271(5):1035-45. PubMed ID: 15009215
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  • 28. Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.
    Broers JL, Kuijpers HJ, Ostlund C, Worman HJ, Endert J, Ramaekers FC.
    Exp Cell Res; 2005 Apr 01; 304(2):582-92. PubMed ID: 15748902
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  • 29. 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
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  • 32. Mutations in the LMNA gene encoding lamin A/C.
    Genschel J, Schmidt HH.
    Hum Mutat; 2000 Dec 01; 16(6):451-9. PubMed ID: 11102973
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  • 33. Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.
    Muchir A, Worman HJ.
    Curr Opin Neurol; 2019 Oct 01; 32(5):728-734. PubMed ID: 31460960
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  • 34. X-linked form of Emery-Dreifuss muscular dystrophy.
    Hayashi YK.
    Acta Myol; 2005 Oct 01; 24(2):98-103. PubMed ID: 16550925
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  • 35. The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases.
    Mounkes LC, Burke B, Stewart CL.
    Trends Cardiovasc Med; 2001 Oct 01; 11(7):280-5. PubMed ID: 11709282
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  • 36. BAF is required for emerin assembly into the reforming nuclear envelope.
    Haraguchi T, Koujin T, Segura-Totten M, Lee KK, Matsuoka Y, Yoneda Y, Wilson KL, Hiraoka Y.
    J Cell Sci; 2001 Dec 01; 114(Pt 24):4575-85. PubMed ID: 11792822
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  • 37. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
    Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D.
    J Med Genet; 2003 Dec 01; 40(12):e132. PubMed ID: 14684700
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  • 39. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
    Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G.
    Neurology; 2007 May 29; 68(22):1883-94. PubMed ID: 17536044
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  • 40. Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
    Meaburn KJ, Levy N, Toniolo D, Bridger JM.
    Biochem Soc Trans; 2005 Dec 29; 33(Pt 6):1438-40. PubMed ID: 16246140
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