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Journal Abstract Search

236 related items for PubMed ID: 22174871

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  • 2. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
    Ravenscroft G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ.
    Brain; 2011 Apr; 134(Pt 4):1101-15. PubMed ID: 21303860
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  • 5. Clinical course correlates poorly with muscle pathology in nemaline myopathy.
    Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH.
    Neurology; 2003 Feb 25; 60(4):665-73. PubMed ID: 12601110
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  • 6. 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 25; 68(6):1333-43. PubMed ID: 11333380
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  • 8. 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
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  • 10. 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 15; 16(9-10):541-7. PubMed ID: 16945536
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  • 11. Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.
    Gineste C, Duhamel G, Le Fur Y, Vilmen C, Cozzone PJ, Nowak KJ, Bendahan D, Gondin J.
    PLoS One; 2013 Oct 15; 8(8):e72294. PubMed ID: 23977274
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  • 13. Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
    Ochala J, Ravenscroft G, Laing NG, Nowak KJ.
    PLoS One; 2012 Oct 15; 7(9):e45923. PubMed ID: 23029319
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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 15; 25(5):388-91. PubMed ID: 25747004
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  • 17. 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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  • 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 09; 108(3):250-6. PubMed ID: 15221331
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  • 19. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.
    Garibaldi M, Fattori F, Pennisi EM, Merlonghi G, Fionda L, Vanoli F, Leonardi L, Bucci E, Morino S, Micaloni A, Tartaglione T, Uijterwijk B, Zierikzee M, Ottenheijm C, Bertini ES, Stoppacciaro A, Raffa S, Salvetti M, Antonini G.
    Neuromuscul Disord; 2021 Feb 09; 31(2):139-148. PubMed ID: 33384202
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  • 20. 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 09; 14(8-9):471-5. PubMed ID: 15336687
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