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Journal Abstract Search

507 related items for PubMed ID: 19764481

  • 1. [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse].
    Ohno K, Ito M, Masuda A.
    Nihon Shinkei Seishin Yakurigaku Zasshi; 2009 Aug; 29(4):145-51. PubMed ID: 19764481
    [Abstract] [Full Text] [Related]

  • 2. [Genetic defects and disorders at the neuromuscular junction].
    Ohno K.
    Brain Nerve; 2011 Jul; 63(7):669-78. PubMed ID: 21747136
    [Abstract] [Full Text] [Related]

  • 3. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
    Müller JS, Mihaylova V, Abicht A, Lochmüller H.
    Expert Rev Mol Med; 2007 Aug 09; 9(22):1-20. PubMed ID: 17686188
    [Abstract] [Full Text] [Related]

  • 4. [Congenital myasthenic syndromes].
    Ohno K.
    Rinsho Shinkeigaku; 2012 Aug 09; 52(11):1159-61. PubMed ID: 23196549
    [Abstract] [Full Text] [Related]

  • 5. Congenital myasthenic syndromes: progress over the past decade.
    Engel AG, Ohno K, Sine SM.
    Muscle Nerve; 2003 Jan 09; 27(1):4-25. PubMed ID: 12508290
    [Abstract] [Full Text] [Related]

  • 6. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
    Andreux F, Hantaï D, Eymard B.
    Rev Neurol (Paris); 2004 Feb 09; 160(2):163-76. PubMed ID: 15034473
    [Abstract] [Full Text] [Related]

  • 7. Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
    Engel AG, Ohno K, Shen XM, Sine SM.
    Ann N Y Acad Sci; 2003 Sep 09; 998():138-60. PubMed ID: 14592871
    [Abstract] [Full Text] [Related]

  • 8. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.
    Brain; 2008 Mar 09; 131(Pt 3):747-59. PubMed ID: 18180250
    [Abstract] [Full Text] [Related]

  • 9. Developmental consequences of the ColQ/MuSK interactions.
    Karmouch J, Dobbertin A, Sigoillot S, Legay C.
    Chem Biol Interact; 2013 Mar 25; 203(1):287-91. PubMed ID: 23089045
    [Abstract] [Full Text] [Related]

  • 10. Congenital myasthenic syndromes.
    Harper CM.
    Semin Neurol; 2004 Mar 25; 24(1):111-23. PubMed ID: 15229798
    [Abstract] [Full Text] [Related]

  • 11. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.
    Ohno K, Ito M, Kawakami Y, Krejci E, Engel AG.
    Chem Biol Interact; 2013 Mar 25; 203(1):335-40. PubMed ID: 22981737
    [Abstract] [Full Text] [Related]

  • 12. Synaptic basal lamina-associated congenital myasthenic syndromes.
    Maselli RA, Arredondo J, Ferns MJ, Wollmann RL.
    Ann N Y Acad Sci; 2012 Dec 25; 1275():36-48. PubMed ID: 23278576
    [Abstract] [Full Text] [Related]

  • 13. Sleuthing molecular targets for neurological diseases at the neuromuscular junction.
    Engel AG, Ohno K, Sine SM.
    Nat Rev Neurosci; 2003 May 25; 4(5):339-52. PubMed ID: 12728262
    [No Abstract] [Full Text] [Related]

  • 14.
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    [No Abstract] [Full Text] [Related]

  • 15. Viral vector-mediated [corrected] expression of human collagen Q in cultured cells.
    Ito M, Masuda A, Jinno S, Katagiri T, Krejci E, Ohno K.
    Chem Biol Interact; 2008 Sep 25; 175(1-3):346-8. PubMed ID: 18374322
    [Abstract] [Full Text] [Related]

  • 16. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
    Sigoillot SM, Bourgeois F, Karmouch J, Molgó J, Dobbertin A, Chevalier C, Houlgatte R, Léger J, Legay C.
    FASEB J; 2016 Jun 25; 30(6):2382-99. PubMed ID: 26993635
    [Abstract] [Full Text] [Related]

  • 17. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
    Banwell BL, Ohno K, Sieb JP, Engel AG.
    Neuromuscul Disord; 2004 Mar 25; 14(3):202-7. PubMed ID: 15036330
    [Abstract] [Full Text] [Related]

  • 18. Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
    Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, Martin-Martinez J, Engel AG.
    Neurology; 2005 Jul 12; 65(1):144-6. PubMed ID: 16009904
    [Abstract] [Full Text] [Related]

  • 19. Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
    Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J.
    Neuromuscul Disord; 2007 Mar 12; 17(3):262-5. PubMed ID: 17300939
    [Abstract] [Full Text] [Related]

  • 20. Current understanding of congenital myasthenic syndromes.
    Engel AG, Sine SM.
    Curr Opin Pharmacol; 2005 Jun 12; 5(3):308-21. PubMed ID: 15907919
    [Abstract] [Full Text] [Related]

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