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 *

214 related articles for article (PubMed ID: 38376469)

  • 1. Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.
    Galli RA; Borsboom TC; Gineste C; Brocca L; Rossi M; Hwee DT; Malik FI; Bottinelli R; Gondin J; Pellegrino MA; de Winter JM; Ottenheijm CAC
    J Gen Physiol; 2024 Apr; 156(4):. PubMed ID: 38376469
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
    de Winter JM; Gineste C; Minardi E; Brocca L; Rossi M; Borsboom T; Beggs AH; Bernard M; Bendahan D; Hwee DT; Malik FI; Pellegrino MA; Bottinelli R; Gondin J; Ottenheijm CAC
    Hum Mol Genet; 2021 Jun; 30(14):1305-1320. PubMed ID: 33909041
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.
    Gineste C; Duhamel G; Le Fur Y; Vilmen C; Cozzone PJ; Nowak KJ; Bendahan D; Gondin J
    PLoS One; 2013; 8(8):e72294. PubMed ID: 23977274
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator
    Lee EJ; Kolb J; Hwee DT; Malik FI; Granzier HL
    Int J Mol Sci; 2019 Oct; 20(20):. PubMed ID: 31658633
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
    Joureau B; de Winter JM; Conijn S; Bogaards SJP; Kovacevic I; Kalganov A; Persson M; Lindqvist J; Stienen GJM; Irving TC; Ma W; Yuen M; Clarke NF; Rassier DE; Malfatti E; Romero NB; Beggs AH; Ottenheijm CAC
    Ann Neurol; 2018 Feb; 83(2):269-282. PubMed ID: 29328520
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
    de Winter JM; Buck D; Hidalgo C; Jasper JR; Malik FI; Clarke NF; Stienen GJ; Lawlor MW; Beggs AH; Ottenheijm CA; Granzier H
    J Med Genet; 2013 Jun; 50(6):383-92. PubMed ID: 23572184
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
    Ochala J; Ravenscroft G; Laing NG; Nowak KJ
    PLoS One; 2012; 7(9):e45923. PubMed ID: 23029319
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
    Ravenscroft G; Jackaman C; Sewry CA; McNamara E; Squire SE; Potter AC; Papadimitriou J; Griffiths LM; Bakker AJ; Davies KE; Laing NG; Nowak KJ
    PLoS One; 2011; 6(12):e28699. PubMed ID: 22174871
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
    Liu Y; Lin W
    Hum Mol Genet; 2024 Jan; 33(3):233-244. PubMed ID: 37883471
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.
    Gineste C; Le Fur Y; Vilmen C; Le Troter A; Pecchi E; Cozzone PJ; Hardeman EC; Bendahan D; Gondin J
    PLoS One; 2013; 8(4):e61517. PubMed ID: 23613869
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
    Tinklenberg JA; Slick RA; Sutton J; Zhang L; Meng H; Beatka MJ; Vanden Avond M; Prom MJ; Ott E; Montanaro F; Heisner J; Toro R; Hardeman EC; Geurts AM; Stowe DF; Hill RB; Lawlor MW
    Am J Pathol; 2023 Oct; 193(10):1548-1567. PubMed ID: 37419385
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.