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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
    Jungbluth H; Sewry CA; Brown SC; Nowak KJ; Laing NG; Wallgren-Pettersson C; Pelin K; Manzur AY; Mercuri E; Dubowitz V; Muntoni F
    Neuromuscul Disord; 2001 Jan; 11(1):35-40. PubMed ID: 11166164
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ; Wattanasirichaigoon D; Goebel HH; Wilce M; Pelin K; Donner K; Jacob RL; Hübner C; Oexle K; Anderson JR; Verity CM; North KN; Iannaccone ST; Müller CR; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson AG; Swoboda KJ; Vigneron J; Wallgren-Pettersson C; Beggs AH; Laing NG
    Nat Genet; 1999 Oct; 23(2):208-12. PubMed ID: 10508519
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
    D'Amico A; Graziano C; Pacileo G; Petrini S; Nowak KJ; Boldrini R; Jacques A; Feng JJ; Porfirio B; Sewry CA; Santorelli FM; Limongelli G; Bertini E; Laing N; Marston SB
    Neuromuscul Disord; 2006 Oct; 16(9-10):548-52. PubMed ID: 16945537
    [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]  

  • 8. Nemaline myopathies.
    Wallgren-Pettersson C; Sewry CA; Nowak KJ; Laing NG
    Semin Pediatr Neurol; 2011 Dec; 18(4):230-8. PubMed ID: 22172418
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
    Castiglioni C; Cassandrini D; Fattori F; Bellacchio E; D'Amico A; Alvarez K; Gejman R; Diaz J; Santorelli FM; Romero NB; Bertini E; Bevilacqua JA
    Muscle Nerve; 2014 Dec; 50(6):1011-6. PubMed ID: 25088345
    [TBL] [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]  

  • 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; 31(2):139-148. PubMed ID: 33384202
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
    Friedman B; Simpson K; Tesi-Rocha C; Zhou D; Palmer CA; Suchy SF
    Neuromuscul Disord; 2014 Apr; 24(4):331-4. PubMed ID: 24447884
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.