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Journal Abstract Search

167 related items for PubMed ID: 12775505

  • 1. Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy.
    Weeks DA, Nixon RR, Kaimaktchiev V, Mierau GW.
    Ultrastruct Pathol; 2003; 27(3):151-4. PubMed ID: 12775505
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  • 2. 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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  • 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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  • 4. Neonatal nemaline myopathy with abundant intranuclear rods.
    Barohn RJ, Jackson CE, Kagan-Hallet KS.
    Neuromuscul Disord; 1994 Feb; 4(5-6):513-20. PubMed ID: 7881297
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  • 8. 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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  • 10. 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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  • 11. Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
    Sztal TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ.
    Acta Neuropathol; 2015 Sep; 130(3):389-406. PubMed ID: 25931053
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  • 12. Intranuclear rods in severe congenital nemaline myopathy.
    Rifai Z, Kazee AM, Kamp C, Griggs RC.
    Neurology; 1993 Nov; 43(11):2372-7. PubMed ID: 8232959
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  • 16. Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure.
    Whitaker J, Love S, Williams AP, Plummeridge M.
    Muscle Nerve; 2009 Mar; 39(3):406-8. PubMed ID: 19208402
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  • 18. 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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  • 19. 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 09; 21(1):31-6. PubMed ID: 20850316
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  • 20. Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
    Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.
    Acta Neuropathol Commun; 2014 Apr 12; 2():44. PubMed ID: 24725366
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