These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

934 related items for PubMed ID: 10508519

  • 1. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.
    Nat Genet; 1999 Oct; 23(2):208-12. PubMed ID: 10508519
    [Abstract] [Full Text] [Related]

  • 2. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
    Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH.
    Ann Neurol; 2004 Jul; 56(1):86-96. PubMed ID: 15236405
    [Abstract] [Full Text] [Related]

  • 3. Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
    Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A.
    Neuromuscul Disord; 2004 Sep; 14(8-9):471-5. PubMed ID: 15336687
    [Abstract] [Full Text] [Related]

  • 4. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
    D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB.
    Neuromuscul Disord; 2006 Oct; 16(9-10):548-52. PubMed ID: 16945537
    [Abstract] [Full Text] [Related]

  • 5. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
    Schröder JM, Durling H, Laing N.
    Acta Neuropathol; 2004 Sep; 108(3):250-6. PubMed ID: 15221331
    [Abstract] [Full Text] [Related]

  • 6. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
    Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG, ENMC International Consortium On Nemaline Myopathy.
    Neuromuscul Disord; 2004 Sep; 14(8-9):461-70. PubMed ID: 15336686
    [Abstract] [Full Text] [Related]

  • 7. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
    Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG.
    Neuromuscul Disord; 2006 Oct; 16(9-10):541-7. PubMed ID: 16945536
    [Abstract] [Full Text] [Related]

  • 8. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
    Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR.
    Nat Genet; 1995 Jan; 9(1):75-9. PubMed ID: 7704029
    [Abstract] [Full Text] [Related]

  • 9. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
    Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L.
    J Mol Cell Cardiol; 2000 Sep; 32(9):1687-94. PubMed ID: 10966831
    [Abstract] [Full Text] [Related]

  • 10. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
    Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.
    N Engl J Med; 2000 Mar 16; 342(11):770-80. PubMed ID: 10717012
    [Abstract] [Full Text] [Related]

  • 11. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
    Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.
    Am J Hum Genet; 2001 Jun 16; 68(6):1333-43. PubMed ID: 11333380
    [Abstract] [Full Text] [Related]

  • 12. Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.
    Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S.
    Neuromuscul Disord; 2009 Jul 16; 19(7):481-4. PubMed ID: 19553116
    [Abstract] [Full Text] [Related]

  • 13. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).
    Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T.
    Neuropediatrics; 2007 Dec 16; 38(6):282-6. PubMed ID: 18461503
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
    Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.
    Neuromuscul Disord; 2006 Feb 16; 16(2):113-21. PubMed ID: 16427282
    [Abstract] [Full Text] [Related]

  • 15. Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation.
    Kim SY, Park YE, Kim HS, Lee CH, Yang DH, Kim DS.
    J Neurol Sci; 2011 Aug 15; 307(1-2):171-3. PubMed ID: 21570694
    [Abstract] [Full Text] [Related]

  • 16. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.
    Ilkovski B, Clement S, Sewry C, North KN, Cooper ST.
    Neuromuscul Disord; 2005 Dec 15; 15(12):829-35. PubMed ID: 16288873
    [Abstract] [Full Text] [Related]

  • 17. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
    Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM.
    Muscle Nerve; 2007 Feb 15; 35(2):254-8. PubMed ID: 16967490
    [Abstract] [Full Text] [Related]

  • 18. The pathogenesis of ACTA1-related congenital fiber type disproportion.
    Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K.
    Ann Neurol; 2007 Jun 15; 61(6):552-61. PubMed ID: 17387733
    [Abstract] [Full Text] [Related]

  • 19. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
    Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.
    Hum Mol Genet; 2004 Aug 15; 13(16):1727-43. PubMed ID: 15198992
    [Abstract] [Full Text] [Related]

  • 20. Actin mutations are one cause of congenital fibre type disproportion.
    Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I.
    Ann Neurol; 2004 Nov 15; 56(5):689-94. PubMed ID: 15468086
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 47.