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Journal Abstract Search

193 related items for PubMed ID: 11030414

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  • 3. Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency.
    Sieb JP, Dörfler P, Tzartos S, Wewer UM, Rüegg MA, Meyer D, Baumann I, Lindemuth R, Jakschik J, Ries F.
    Neurology; 1998 Jan; 50(1):54-61. PubMed ID: 9443457
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  • 5. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
    Sieb JP, Kraner S, Schrank B, Reitter B, Goebel TH, Tzartos SJ, Steinlein OK.
    Ann Neurol; 2000 Sep; 48(3):379-83. PubMed ID: 10976646
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  • 6. Utrophin abundance is reduced at neuromuscular junctions of patients with both inherited and acquired acetylcholine receptor deficiencies.
    Slater CR, Young C, Wood SJ, Bewick GS, Anderson LV, Baxter P, Fawcett PR, Roberts M, Jacobson L, Kuks J, Vincent A, Newsom-Davis J.
    Brain; 1997 Sep; 120 ( Pt 9)():1513-31. PubMed ID: 9313636
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  • 7. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
    Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A.
    Brain; 2006 Oct; 129(Pt 10):2784-93. PubMed ID: 16916845
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  • 9. Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
    Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmüller H.
    Neuropediatrics; 2002 Oct; 33(5):249-54. PubMed ID: 12536367
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  • 10. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
    Andreux F, Hantaï D, Eymard B.
    Rev Neurol (Paris); 2004 Feb; 160(2):163-76. PubMed ID: 15034473
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  • 15. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
    Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG.
    Hum Mol Genet; 1997 May; 6(5):753-66. PubMed ID: 9158150
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  • 16. Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.
    Shen XM, Ohno K, Sine SM, Engel AG.
    Brain; 2005 Feb; 128(Pt 2):345-55. PubMed ID: 15615813
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  • 18. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
    Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC.
    Ann Neurol; 1996 Nov; 40(5):810-7. PubMed ID: 8957026
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  • 19. [Histochemical findings of and fine structural changes in motor endplates in diseases with neuromuscular transmission abnormalities].
    Yoshimura T, Motomura M, Tsujihata M.
    Brain Nerve; 2011 Jul; 63(7):719-27. PubMed ID: 21747142
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