BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

568 related articles for article (PubMed ID: 16531045)

  • 1. 'Cap myopathy': case report of a family.
    Cuisset JM; Maurage CA; Pellissier JF; Barois A; Urtizberea JA; Laing N; Tajsharghi H; Vallée L
    Neuromuscul Disord; 2006 Apr; 16(4):277-81. PubMed ID: 16531045
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Nemaline congenital myopathy:clinical features and histopathological findings in nine patients].
    Botelho CH; Carod-Artal FJ; Kalil RK
    Rev Neurol; 2001 Feb 16-28; 32(4):309-14. PubMed ID: 11333383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [A comparative study of the clinical and histological characteristics between classic nemaline myopathy and that associated with the human immunodeficiency virus].
    Miró O; Masanés F; Pedrol E; García-Carrasco M; Mallolas J; Casademont J; Grau JM
    Med Clin (Barc); 1995 Oct; 105(13):500-3. PubMed ID: 7494440
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
    Sewry CA; Holton JL; Dick DJ; Muntoni F; Hanna MG
    Neuromuscul Disord; 2015 May; 25(5):388-91. PubMed ID: 25747004
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
    Lehtokari VL; Pelin K; Herczegfalvi A; Karcagi V; Pouget J; Franques J; Pellissier JF; Figarella-Branger D; von der Hagen M; Huebner A; Schoser B; Lochmüller H; Wallgren-Pettersson C
    Neuromuscul Disord; 2011 Aug; 21(8):556-62. PubMed ID: 21724397
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].
    Sudo A; Hayashi Y; Sano H; Kawamura N; Nishino I; Nonaka I
    No To Hattatsu; 2013 Nov; 45(6):452-6. PubMed ID: 24313005
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nemaline myopathy: description of an adult onset case.
    Ginanneschi F; Mondelli M; Malandrini A; Gambelli S; Dotti MT; Federico A
    J Submicrosc Cytol Pathol; 2002 Jan; 34(1):105-8. PubMed ID: 11989852
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital myopathies and muscular dystrophies.
    Gilbreath HR; Castro D; Iannaccone ST
    Neurol Clin; 2014 Aug; 32(3):689-703, viii. PubMed ID: 25037085
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Adult-onset nemaline myopathy with distal muscle atrophy--case report].
    Niwa F; Shiga K; Kimura M; Yamaguchi T; Kondo M; Nakagawa M
    Brain Nerve; 2009 Jun; 61(6):695-9. PubMed ID: 19526838
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Adult-onset nemaline myopathy presenting as respiratory failure.
    Kelly E; Farrell MA; McElvaney NG
    Respir Care; 2008 Nov; 53(11):1490-4. PubMed ID: 18957152
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
    Dye DE; Azzarelli B; Goebel HH; Laing NG
    Neuromuscul Disord; 2006 Jun; 16(6):357-60. PubMed ID: 16684601
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.
    D'Amico A; Fattori F; Fiorillo C; Paglietti MG; Testa MBC; Verardo M; Catteruccia M; Bruno C; Bertini E
    Neuromuscul Disord; 2019 Oct; 29(10):766-770. PubMed ID: 31604653
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 29.