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Journal Abstract Search

214 related items for PubMed ID: 20850316

  • 1. A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
    Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG.
    Neuromuscul Disord; 2011 Jan; 21(1):31-6. PubMed ID: 20850316
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  • 2. 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
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  • 3. 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; 38(6):282-6. PubMed ID: 18461503
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  • 4. 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
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  • 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; 16(2):113-21. PubMed ID: 16427282
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  • 6. 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
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  • 7. Intranuclear nemaline rod myopathy.
    Kaimaktchiev V, Goebel H, Laing N, Narus M, Weeks D, Nixon R.
    Muscle Nerve; 2006 Sep; 34(3):369-72. PubMed ID: 16477620
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  • 8. 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; 19(7):481-4. PubMed ID: 19553116
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  • 12. Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
    Nowak KJ, Ravenscroft G, Laing NG.
    Acta Neuropathol; 2013 Jan; 125(1):19-32. PubMed ID: 22825594
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  • 15. Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
    Sewry CA, Holton JL, Dick DJ, Muntoni F, Hanna MG.
    Neuromuscul Disord; 2015 May; 25(5):388-91. PubMed ID: 25747004
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  • 16. A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.
    Levesque L, Del Bigio MR, Krawitz S, Mhanni AA.
    Neuromuscul Disord; 2013 Mar; 23(3):239-42. PubMed ID: 23305948
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  • 19. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
    Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB.
    Neuromuscul Disord; 2013 Dec; 23(12):992-7. PubMed ID: 24095155
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