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Journal Abstract Search

501 related items for PubMed ID: 15564032

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
    Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F.
    Neuromuscul Disord; 2004 Dec; 14(12):785-90. PubMed ID: 15564033
    [Abstract] [Full Text] [Related]

  • 3. 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, ENMC International Consortium On Nemaline Myopathy.
    Neuromuscul Disord; 2004 Sep; 14(8-9):461-70. PubMed ID: 15336686
    [Abstract] [Full Text] [Related]

  • 4. 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
    [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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [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
    [Abstract] [Full Text] [Related]

  • 14. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.
    Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, Torigian DA, Jungbluth H, Goebel HH, Bönnemann CG.
    Neuromuscul Disord; 2007 Jan; 17(1):28-32. PubMed ID: 17134899
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
    Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN.
    Neuromuscul Disord; 2010 Apr; 20(4):229-37. PubMed ID: 20227276
    [Abstract] [Full Text] [Related]

  • 17. Nemaline myopathies.
    Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG.
    Semin Pediatr Neurol; 2011 Dec; 18(4):230-8. PubMed ID: 22172418
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
    Feng JJ, Marston S.
    Neuromuscul Disord; 2009 Jan; 19(1):6-16. PubMed ID: 18976909
    [Abstract] [Full Text] [Related]

  • 19. Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
    Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S137-47. PubMed ID: 22980765
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 38(6):282-6. PubMed ID: 18461503
    [Abstract] [Full Text] [Related]

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