BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 34561123)

  • 1. Recent advances in nemaline myopathy.
    Laitila J; Wallgren-Pettersson C
    Neuromuscul Disord; 2021 Oct; 31(10):955-967. PubMed ID: 34561123
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Histopathologic progression and a novel mutation in a child with nemaline myopathy.
    Ladha S; Coons S; Johnsen S; Sambuughin N; Bien-Wilner R; Sivakumar K
    J Child Neurol; 2008 Jul; 23(7):813-7. PubMed ID: 18487519
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
    Nguyen MA; Joya JE; Kee AJ; Domazetovska A; Yang N; Hook JW; Lemckert FA; Kettle E; Valova VA; Robinson PJ; North KN; Gunning PW; Mitchell CA; Hardeman EC
    Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
    Hernandez-Lain A; Cantero D; Camacho-Salas A; Toldos O; Esteban I; Pascual I; Dominguez-Gonzalez C
    Neuromuscul Disord; 2019 Mar; 29(3):247-250. PubMed ID: 30732915
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
    Ottenheijm CA; Buck D; de Winter JM; Ferrara C; Piroddi N; Tesi C; Jasper JR; Malik FI; Meng H; Stienen GJ; Beggs AH; Labeit S; Poggesi C; Lawlor MW; Granzier H
    Brain; 2013 Jun; 136(Pt 6):1718-31. PubMed ID: 23715096
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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]  

  • 11. Nemaline myopathies: a current view.
    Sewry CA; Laitila JM; Wallgren-Pettersson C
    J Muscle Res Cell Motil; 2019 Jun; 40(2):111-126. PubMed ID: 31228046
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.
    Kao JC; Liewluck T; Milone M
    J Clin Neurosci; 2018 Jul; 53():261-262. PubMed ID: 29731279
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.
    Lindqvist J; Cheng AJ; Renaud G; Hardeman EC; Ochala J
    J Neuropathol Exp Neurol; 2013 Jun; 72(6):472-81. PubMed ID: 23656990
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
    Li F; Buck D; De Winter J; Kolb J; Meng H; Birch C; Slater R; Escobar YN; Smith JE; Yang L; Konhilas J; Lawlor MW; Ottenheijm C; Granzier HL
    Hum Mol Genet; 2015 Sep; 24(18):5219-33. PubMed ID: 26123491
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 10(1):101. PubMed ID: 35810298
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.
    Sztal TE; McKaige EA; Williams C; Oorschot V; Ramm G; Bryson-Richardson RJ
    Acta Neuropathol Commun; 2018 May; 6(1):40. PubMed ID: 29848386
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].
    Bojdo A; Obersztyn E; Wallgren-Pettersson C; Lehtokari V; Laing N; Davis M; Kułakowska Z
    Med Wieku Rozwoj; 2009; 13(1):5-10. PubMed ID: 19648653
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.
    Joureau B; de Winter JM; Stam K; Granzier H; Ottenheijm CA
    Neuromuscul Disord; 2017 Jan; 27(1):83-89. PubMed ID: 27890461
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.