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Journal Abstract Search

420 related items for PubMed ID: 17157023

  • 1. 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; 17(1):6-12. PubMed ID: 17157023
    [Abstract] [Full Text] [Related]

  • 2. 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; 126(Pt 7):1545-51. PubMed ID: 12805120
    [Abstract] [Full Text] [Related]

  • 3. 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(2):113-21. PubMed ID: 16427282
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. A new phenotype of autosomal dominant nemaline myopathy.
    Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ.
    Neuromuscul Disord; 2002 Jan; 12(1):13-8. PubMed ID: 11731279
    [Abstract] [Full Text] [Related]

  • 6. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
    Pénisson-Besnier I, Monnier N, Toutain A, Dubas F, Laing N.
    Neuromuscul Disord; 2007 Apr; 17(4):330-7. PubMed ID: 17376686
    [Abstract] [Full Text] [Related]

  • 7. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
    Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A.
    Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 01; 14(8-9):471-5. PubMed ID: 15336687
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 9(1):75-9. PubMed ID: 7704029
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 134(Pt 12):3516-29. PubMed ID: 22067542
    [Abstract] [Full Text] [Related]

  • 12. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
    Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 2001 Jan 01; 11(1):35-40. PubMed ID: 11166164
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 57(1):42-9. PubMed ID: 15562513
    [Abstract] [Full Text] [Related]

  • 14. Nemaline myopathies.
    Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG.
    Semin Pediatr Neurol; 2011 Dec 01; 18(4):230-8. PubMed ID: 22172418
    [Abstract] [Full Text] [Related]

  • 15. Myofiber adaptational response to exercise in a mouse model of nemaline myopathy.
    Nair-Shalliker V, Kee AJ, Joya JE, Lucas CA, Hoh JF, Hardeman EC.
    Muscle Nerve; 2004 Oct 01; 30(4):470-80. PubMed ID: 15372535
    [Abstract] [Full Text] [Related]

  • 16. Magnetic resonance imaging of muscle in nemaline myopathy.
    Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F.
    Neuromuscul Disord; 2004 Dec 01; 14(12):779-84. PubMed ID: 15564032
    [Abstract] [Full Text] [Related]

  • 17. Intranuclear nemaline rod myopathy.
    Kaimaktchiev V, Goebel H, Laing N, Narus M, Weeks D, Nixon R.
    Muscle Nerve; 2006 Sep 01; 34(3):369-72. PubMed ID: 16477620
    [Abstract] [Full Text] [Related]

  • 18. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
    Schröder JM, Durling H, Laing N.
    Acta Neuropathol; 2004 Sep 01; 108(3):250-6. PubMed ID: 15221331
    [Abstract] [Full Text] [Related]

  • 19. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
    Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS.
    Neuromuscul Disord; 2009 Feb 01; 19(2):118-23. PubMed ID: 19155175
    [Abstract] [Full Text] [Related]

  • 20. Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure.
    Birchall D, von der Hagen M, Bates D, Bushby KM, Chinnery PF.
    Neuromuscul Disord; 2005 Oct 01; 15(9-10):595-600. PubMed ID: 16084088
    [Abstract] [Full Text] [Related]

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