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 *

206 related articles for article (PubMed ID: 19553121)

  • 1. Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
    Arai A; Mitsuhashi S; Saito Y; Komaki H; Sakuma H; Nakagawa E; Sugai K; Sasaki M; Robertson SP; Nishimura G; Yamamoto T; Nonaka I; Nishino I
    Neuromuscul Disord; 2009 Jul; 19(7):485-8. PubMed ID: 19553121
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.
    Garcia-Angarita N; Kirschner J; Heiliger M; Thirion C; Walter MC; Schnittfeld-Acarlioglu S; Albrecht M; Müller K; Wieczorek D; Lochmüller H; Krause S
    Neuromuscul Disord; 2009 Jul; 19(7):481-4. PubMed ID: 19553116
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
    Ilkovski B; Nowak KJ; Domazetovska A; Maxwell AL; Clement S; Davies KE; Laing NG; North KN; Cooper ST
    Hum Mol Genet; 2004 Aug; 13(16):1727-43. PubMed ID: 15198992
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
    Wallefeld W; Krause S; Nowak KJ; Dye D; Horváth R; Molnár Z; Szabó M; Hashimoto K; Reina C; De Carlos J; Rosell J; Cabello A; Navarro C; Nishino I; Lochmüller H; Laing NG
    Neuromuscul Disord; 2006 Oct; 16(9-10):541-7. PubMed ID: 16945536
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Magnetic resonance imaging of muscle in nemaline myopathy.
    Jungbluth H; Sewry CA; Counsell S; Allsop J; Chattopadhyay A; Mercuri E; North K; Laing N; Bydder G; Pelin K; Wallgren-Pettersson C; Muntoni F
    Neuromuscul Disord; 2004 Dec; 14(12):779-84. PubMed ID: 15564032
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
    Wallgren-Pettersson C; Pelin K; Nowak KJ; Muntoni F; Romero NB; Goebel HH; North KN; Beggs AH; Laing NG;
    Neuromuscul Disord; 2004 Sep; 14(8-9):461-70. PubMed ID: 15336686
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Intranuclear rods myopathy with autonomic dysfunction.
    Chou PC; Liang WC; Nonaka I; Mitsuhashi S; Nishino I; Jong YJ
    Brain Dev; 2013 Aug; 35(7):686-9. PubMed ID: 23102861
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
    Bouldin AA; Parisi MA; Laing N; Patterson K; Gospe SM
    Muscle Nerve; 2007 Feb; 35(2):254-8. PubMed ID: 16967490
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation.
    Kim SY; Park YE; Kim HS; Lee CH; Yang DH; Kim DS
    J Neurol Sci; 2011 Aug; 307(1-2):171-3. PubMed ID: 21570694
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.