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Journal Abstract Search

388 related items for PubMed ID: 11503164

  • 1. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
    Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.
    Am J Med Genet; 2001 Sep 01; 102(4):359-67. PubMed ID: 11503164
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
    Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K.
    Nat Genet; 1999 Mar 01; 21(3):285-8. PubMed ID: 10080180
    [Abstract] [Full Text] [Related]

  • 4. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
    Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K.
    Hum Mol Genet; 2000 May 22; 9(9):1453-9. PubMed ID: 10814726
    [Abstract] [Full Text] [Related]

  • 5. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
    Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.
    N Engl J Med; 1999 Dec 02; 341(23):1715-24. PubMed ID: 10580070
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 47(5):225-8. PubMed ID: 12032588
    [Abstract] [Full Text] [Related]

  • 7. [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
    Rudenskaia GE, Tverskaia SM, Chukhrova AL, Zakliaz'minskaia EV, Kuropatkina IuV, Dadali EL, Perminov VS, Poliakov AV.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2006 Dec 02; 106(10):58-65. PubMed ID: 17117676
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 104(3):262-8. PubMed ID: 10323252
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the LMNA gene encoding lamin A/C.
    Genschel J, Schmidt HH.
    Hum Mutat; 2000 Dec 02; 16(6):451-9. PubMed ID: 11102973
    [Abstract] [Full Text] [Related]

  • 10. [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 02; 42(2):140-4. PubMed ID: 12424964
    [Abstract] [Full Text] [Related]

  • 11. 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 02; 129(Pt 4):996-1013. PubMed ID: 16478798
    [Abstract] [Full Text] [Related]

  • 12. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
    Garg A, Speckman RA, Bowcock AM.
    Am J Med; 2002 May 02; 112(7):549-55. PubMed ID: 12015247
    [Abstract] [Full Text] [Related]

  • 13. Emery-Dreifuss muscular dystrophy.
    Puckelwartz M, McNally EM.
    Handb Clin Neurol; 2011 May 02; 101():155-66. PubMed ID: 21496632
    [Abstract] [Full Text] [Related]

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

  • 15. 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]

  • 16. 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 01; 22(2):52-7. PubMed ID: 14959564
    [Abstract] [Full Text] [Related]

  • 17. Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.
    Bertrand AT, Brull A, Azibani F, Benarroch L, Chikhaoui K, Stewart CL, Medalia O, Ben Yaou R, Bonne G.
    Cells; 2020 Mar 31; 9(4):. PubMed ID: 32244403
    [Abstract] [Full Text] [Related]

  • 18. Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts.
    Markiewicz E, Venables R, Mauricio-Alvarez-Reyes, Quinlan R, Dorobek M, Hausmanowa-Petrucewicz I, Hutchison C.
    J Struct Biol; 2002 Mar 31; 140(1-3):241-53. PubMed ID: 12490172
    [Abstract] [Full Text] [Related]

  • 19. 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 31; 33(1):10-4. PubMed ID: 11930270
    [Abstract] [Full Text] [Related]

  • 20. 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 31; 11(7):280-5. PubMed ID: 11709282
    [Abstract] [Full Text] [Related]

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