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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 [TBL] [Abstract][Full Text] [Related]
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 [TBL] [Abstract][Full Text] [Related]
7. 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; 68(6):1333-43. PubMed ID: 11333380 [TBL] [Abstract][Full Text] [Related]
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; 424(2):113507. PubMed ID: 36796746 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. 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 [TBL] [Abstract][Full Text] [Related]
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 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
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; 14(8-9):471-5. PubMed ID: 15336687 [TBL] [Abstract][Full Text] [Related]