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Journal Abstract Search

409 related items for PubMed ID: 18461503

  • 1. 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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  • 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. 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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  • 9. 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
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  • 11. 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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  • 13. 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
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  • 15. 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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  • 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; 61(6):552-61. PubMed ID: 17387733
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  • 19. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
    Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB.
    Acta Neuropathol Commun; 2022 Jul 09; 10(1):101. PubMed ID: 35810298
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  • 20. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.
    Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, Beuvin M, Viou M, Manéré L, Claeys KG, Fardeau M, Lunardi J, Voit T, Romero NB.
    Eur J Med Genet; 2011 Jul 09; 54(1):29-33. PubMed ID: 20888934
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