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 *

253 related articles for article (PubMed ID: 35810298)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 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]  

  • 12. 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]  

  • 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]  

  • 14. Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
    Nowak KJ; Ravenscroft G; Laing NG
    Acta Neuropathol; 2013 Jan; 125(1):19-32. PubMed ID: 22825594
    [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]  

  • 16. Clinical course correlates poorly with muscle pathology in nemaline myopathy.
    Ryan MM; Ilkovski B; Strickland CD; Schnell C; Sanoudou D; Midgett C; Houston R; Muirhead D; Dennett X; Shield LK; De Girolami U; Iannaccone ST; Laing NG; North KN; Beggs AH
    Neurology; 2003 Feb; 60(4):665-73. PubMed ID: 12601110
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
    Ravenscroft G; Wilmshurst JM; Pillay K; Sivadorai P; Wallefeld W; Nowak KJ; Laing NG
    Neuromuscul Disord; 2011 Jan; 21(1):31-6. PubMed ID: 20850316
    [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. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
    Miyatake S; Mitsuhashi S; Hayashi YK; Purevjav E; Nishikawa A; Koshimizu E; Suzuki M; Yatabe K; Tanaka Y; Ogata K; Kuru S; Shiina M; Tsurusaki Y; Nakashima M; Mizuguchi T; Miyake N; Saitsu H; Ogata K; Kawai M; Towbin J; Nonaka I; Nishino I; Matsumoto N
    Am J Hum Genet; 2017 Jan; 100(1):169-178. PubMed ID: 28017374
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.