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Journal Abstract Search

178 related items for PubMed ID: 8390325

  • 1. Congenital endplate acetylcholinesterase deficiency.
    Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, Groover RV, Peterson HA, Jamieson DG, Engel AG.
    Brain; 1993 Jun; 116 ( Pt 3)():633-53. PubMed ID: 8390325
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  • 2. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release.
    Engel AG, Lambert EH, Gomez MR.
    Ann Neurol; 1977 Apr; 1(4):315-30. PubMed ID: 214017
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  • 3. Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.
    Camp S, Bon S, Li Y, Getman DK, Engel AG, Massoulié J, Taylor P.
    J Clin Invest; 1995 Jan; 95(1):333-40. PubMed ID: 7814634
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  • 4. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
    Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG.
    Neurology; 2002 Feb 26; 58(4):603-9. PubMed ID: 11865139
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  • 7. The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
    Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I.
    Ann Neurol; 2000 Feb 26; 47(2):162-70. PubMed ID: 10665486
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  • 8. The slow channel syndrome. Two new cases.
    Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, Jennekens FG, Veldman H, Vincent A, Wray DW.
    Brain; 1987 Aug 26; 110 ( Pt 4)():1061-79. PubMed ID: 3651795
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  • 10. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
    Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG.
    Am J Hum Genet; 1999 Sep 26; 65(3):635-44. PubMed ID: 10441569
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  • 11. Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
    Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantaï D.
    Neuromuscul Disord; 2003 Mar 26; 13(3):236-44. PubMed ID: 12609505
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  • 12. Butyrylcholinesterase and acetylcholinesterase activity and quantal transmitter release at normal and acetylcholinesterase knockout mouse neuromuscular junctions.
    Minic J, Chatonnet A, Krejci E, Molgó J.
    Br J Pharmacol; 2003 Jan 26; 138(1):177-87. PubMed ID: 12522088
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  • 13. Targeting acetylcholinesterase to the neuromuscular synapse.
    Rotundo RL, Rossi SG, Kimbell LM, Ruiz C, Marrero E.
    Chem Biol Interact; 2005 Dec 15; 157-158():15-21. PubMed ID: 16289417
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  • 14. Butyrylcholinesterase and the control of synaptic responses in acetylcholinesterase knockout mice.
    Girard E, Bernard V, Minic J, Chatonnet A, Krejci E, Molgó J.
    Life Sci; 2007 May 30; 80(24-25):2380-5. PubMed ID: 17467011
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  • 19. Novel congenital myasthenic syndromes associated with defects in quantal release.
    Milone M, Fukuda T, Shen XM, Tsujino A, Brengman J, Engel AG.
    Neurology; 2006 Apr 25; 66(8):1223-9. PubMed ID: 16525123
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  • 20. Intracellular acetylcholinesterase of adult rat myofibers is more concentrated in endplate than non-endplate regions.
    Donoso JA, Stiles JR, Fernandez HL.
    J Neurosci Res; 1987 Apr 25; 17(2):146-53. PubMed ID: 3586068
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