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Journal Abstract Search

250 related items for PubMed ID: 35810298

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  • 2. Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
    Donkervoort S, Chan SHS, Hayes LH, Bradley N, Nguyen D, Leach ME, Mohassel P, Hu Y, Thangarajh M, Bharucha-Goebel D, Kan A, Ho RSL, Reyes CA, Nance J, Moore SA, Foley AR, Bönnemann CG.
    Neuromuscul Disord; 2017 Jun; 27(6):531-536. PubMed ID: 28416349
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  • 4. 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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  • 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. Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
    Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E.
    Pediatr Neurol; 2017 Oct; 75():11-16. PubMed ID: 28780987
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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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  • 15. 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 15; 14(8-9):471-5. PubMed ID: 15336687
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  • 16. 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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  • 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 25; 31(2):139-148. PubMed ID: 33384202
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