These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
132 related articles for article (PubMed ID: 27357517)
1. The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. Yang L; Yu P; Chen X; Cai T Mol Med Rep; 2016 Aug; 14(2):1693-6. PubMed ID: 27357517 [TBL] [Abstract][Full Text] [Related]
7. Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy. Yokoi T; Sei K; Enomoto Y; Naruto T; Kurosawa K Pediatr Int; 2019 Nov; 61(11):1169-1171. PubMed ID: 31724238 [No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Lehtokari VL; Pelin K; Herczegfalvi A; Karcagi V; Pouget J; Franques J; Pellissier JF; Figarella-Branger D; von der Hagen M; Huebner A; Schoser B; Lochmüller H; Wallgren-Pettersson C Neuromuscul Disord; 2011 Aug; 21(8):556-62. PubMed ID: 21724397 [TBL] [Abstract][Full Text] [Related]
14. 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. 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]
16. Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. Waisayarat J; Suriyonplengsaeng C; Khongkhatithum C; Rochanawutanon M Diagn Pathol; 2015 Apr; 10():27. PubMed ID: 25890230 [TBL] [Abstract][Full Text] [Related]
17. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Kondo E; Nishimura T; Kosho T; Inaba Y; Mitsuhashi S; Ishida T; Baba A; Koike K; Nishino I; Nonaka I; Furukawa T; Saito K Am J Med Genet A; 2012 Apr; 158A(4):772-8. PubMed ID: 22407809 [TBL] [Abstract][Full Text] [Related]
18. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Wang Q; Hu Z; Chang X; Yu M; Xie Z; Lv H; Zhang W; Xiong H; Yuan Y; Wang Z Clin Genet; 2020 Jun; 97(6):878-889. PubMed ID: 32222963 [TBL] [Abstract][Full Text] [Related]