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Journal Abstract Search

541 related items for PubMed ID: 22067542

  • 1. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
    Nguyen MA, Joya JE, Kee AJ, Domazetovska A, Yang N, Hook JW, Lemckert FA, Kettle E, Valova VA, Robinson PJ, North KN, Gunning PW, Mitchell CA, Hardeman EC.
    Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
    [Abstract] [Full Text] [Related]

  • 2. Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism.
    Joya JE, Kee AJ, Nair-Shalliker V, Ghoddusi M, Nguyen MA, Luther P, Hardeman EC.
    Hum Mol Genet; 2004 Nov 01; 13(21):2633-45. PubMed ID: 15367485
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 56(1):86-96. PubMed ID: 15236405
    [Abstract] [Full Text] [Related]

  • 4. ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
    Gartz M, Haberman M, Sutton J, Slick RA, Luttrell SM, Mack DL, Lawlor MW.
    Exp Cell Res; 2023 Mar 15; 424(2):113507. PubMed ID: 36796746
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 16(2):113-21. PubMed ID: 16427282
    [Abstract] [Full Text] [Related]

  • 6. Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
    Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ.
    PLoS One; 2011 Feb 15; 6(12):e28699. PubMed ID: 22174871
    [Abstract] [Full Text] [Related]

  • 7. Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.
    Lindqvist J, Cheng AJ, Renaud G, Hardeman EC, Ochala J.
    J Neuropathol Exp Neurol; 2013 Jun 15; 72(6):472-81. PubMed ID: 23656990
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 14(8-9):471-5. PubMed ID: 15336687
    [Abstract] [Full Text] [Related]

  • 9. Dietary L-tyrosine supplementation in nemaline myopathy.
    Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN.
    J Child Neurol; 2008 Jun 15; 23(6):609-13. PubMed ID: 18079309
    [Abstract] [Full Text] [Related]

  • 10. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
    Corbett MA, Akkari PA, Domazetovska A, Cooper ST, North KN, Laing NG, Gunning PW, Hardeman EC.
    Ann Neurol; 2005 Jan 15; 57(1):42-9. PubMed ID: 15562513
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 23(2):208-12. PubMed ID: 10508519
    [Abstract] [Full Text] [Related]

  • 12. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
    Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.
    Brain; 2013 Jun 15; 136(Pt 6):1718-31. PubMed ID: 23715096
    [Abstract] [Full Text] [Related]

  • 13. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
    Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL.
    Hum Mol Genet; 2015 Sep 15; 24(18):5219-33. PubMed ID: 26123491
    [Abstract] [Full Text] [Related]

  • 14. Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
    Nowak KJ, Ravenscroft G, Laing NG.
    Acta Neuropathol; 2013 Jan 15; 125(1):19-32. PubMed ID: 22825594
    [Abstract] [Full Text] [Related]

  • 15. Nemaline myopathies.
    Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG.
    Semin Pediatr Neurol; 2011 Dec 15; 18(4):230-8. PubMed ID: 22172418
    [Abstract] [Full Text] [Related]

  • 16. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
    Schröder JM, Durling H, Laing N.
    Acta Neuropathol; 2004 Sep 15; 108(3):250-6. PubMed ID: 15221331
    [Abstract] [Full Text] [Related]

  • 17. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.
    Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, Fitts RH, Lawlor MW.
    Am J Pathol; 2016 Jun 15; 186(6):1568-81. PubMed ID: 27102768
    [Abstract] [Full Text] [Related]

  • 18. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
    Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H.
    Brain; 2003 Jul 15; 126(Pt 7):1545-51. PubMed ID: 12805120
    [Abstract] [Full Text] [Related]

  • 19. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
    Corbett MA, Robinson CS, Dunglison GF, Yang N, Joya JE, Stewart AW, Schnell C, Gunning PW, North KN, Hardeman EC.
    Hum Mol Genet; 2001 Feb 15; 10(4):317-28. PubMed ID: 11157795
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci.
    Jeannet PY, Mittaz L, Dunand M, Lobrinus JA, Bonafe L, Kuntzer T.
    Neuromuscul Disord; 2007 Jan 15; 17(1):6-12. PubMed ID: 17157023
    [Abstract] [Full Text] [Related]

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