BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

287 related articles for article (PubMed ID: 19155175)

  • 1. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
    Monnier N; Lunardi J; Marty I; Mezin P; Labarre-Vila A; Dieterich K; Jouk PS
    Neuromuscul Disord; 2009 Feb; 19(2):118-23. PubMed ID: 19155175
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
    Corbett MA; Akkari PA; Domazetovska A; Cooper ST; North KN; Laing NG; Gunning PW; Hardeman EC
    Ann Neurol; 2005 Jan; 57(1):42-9. PubMed ID: 15562513
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
    Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
    Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myopathies associated with β-tropomyosin mutations.
    Tajsharghi H; Ohlsson M; Palm L; Oldfors A
    Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
    Gommans IM; Davis M; Saar K; Lammens M; Mastaglia F; Lamont P; van Duijnhoven G; ter Laak HJ; Reis A; Vogels OJ; Laing N; van Engelen BG; Kremer H
    Brain; 2003 Jul; 126(Pt 7):1545-51. PubMed ID: 12805120
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
    Clarke NF; Domazetovska A; Waddell L; Kornberg A; McLean C; North KN
    Neuromuscul Disord; 2009 May; 19(5):348-51. PubMed ID: 19345583
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
    Ohlsson M; Quijano-Roy S; Darin N; Brochier G; Lacène E; Avila-Smirnow D; Fardeau M; Oldfors A; Tajsharghi H
    Neurology; 2008 Dec; 71(23):1896-901. PubMed ID: 19047562
    [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. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
    Pénisson-Besnier I; Monnier N; Toutain A; Dubas F; Laing N
    Neuromuscul Disord; 2007 Apr; 17(4):330-7. PubMed ID: 17376686
    [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. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
    Laing NG; Wilton SD; Akkari PA; Dorosz S; Boundy K; Kneebone C; Blumbergs P; White S; Watkins H; Love DR
    Nat Genet; 1995 Jan; 9(1):75-9. PubMed ID: 7704029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci.
    Jeannet PY; Mittaz L; Dunand M; Lobrinus JA; Bonafe L; Kuntzer T
    Neuromuscul Disord; 2007 Jan; 17(1):6-12. PubMed ID: 17157023
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
    Donner K; Ollikainen M; Ridanpää M; Christen HJ; Goebel HH; de Visser M; Pelin K; Wallgren-Pettersson C
    Neuromuscul Disord; 2002 Feb; 12(2):151-8. PubMed ID: 11738357
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
    Tasca G; Fattori F; Ricci E; Monforte M; Rizzo V; Mercuri E; Bertini E; Silvestri G
    Acta Neuropathol; 2013 Jan; 125(1):169-71. PubMed ID: 23015096
    [No Abstract]   [Full Text] [Related]  

  • 18. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
    Lehtokari VL; Pelin K; Donner K; Voit T; Rudnik-Schöneborn S; Stoetter M; Talim B; Topaloglu H; Laing NG; Wallgren-Pettersson C
    Eur J Hum Genet; 2008 Sep; 16(9):1055-61. PubMed ID: 18382475
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
    Mokbel N; Ilkovski B; Kreissl M; Memo M; Jeffries CM; Marttila M; Lehtokari VL; Lemola E; Grönholm M; Yang N; Menard D; Marcorelles P; Echaniz-Laguna A; Reimann J; Vainzof M; Monnier N; Ravenscroft G; McNamara E; Nowak KJ; Laing NG; Wallgren-Pettersson C; Trewhella J; Marston S; Ottenheijm C; North KN; Clarke NF
    Brain; 2013 Feb; 136(Pt 2):494-507. PubMed ID: 23378224
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.