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Journal Abstract Search

147 related items for PubMed ID: 16198106

  • 21. Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor.
    Uchitel O, Engel AG, Walls TJ, Nagel A, Atassi MZ, Bril V.
    Muscle Nerve; 1993 Dec; 16(12):1293-301. PubMed ID: 8232384
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  • 22. 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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  • 26. 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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  • 27. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.
    Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW.
    Ann Neurol; 1996 Jun; 39(6):712-23. PubMed ID: 8651643
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  • 29. Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening.
    Peter C, Korngreen A, Witzemann V.
    Pflugers Arch; 2005 Jun; 450(3):178-84. PubMed ID: 15864502
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  • 32. Contribution of valine 7' of TMD2 to gating of neuronal alpha3 receptor subtypes.
    Nieves-Cintrón M, Caballero-Rivera D, Navedo MF, Lasalde-Dominicci JA.
    J Neurosci Res; 2006 Dec; 84(8):1778-88. PubMed ID: 17044037
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  • 33. Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor.
    Di Castro A, Martinello K, Grassi F, Eusebi F, Engel AG.
    J Physiol; 2007 Mar 15; 579(Pt 3):671-7. PubMed ID: 17272341
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  • 34. A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.
    Shen XM, Di L, Shen S, Zhao Y, Neumeyer AM, Selcen D, Sine SM, Engel AG.
    Exp Neurol; 2020 Sep 15; 331():113375. PubMed ID: 32504635
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  • 35. Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
    Azuma Y, Nakata T, Tanaka M, Shen XM, Ito M, Iwata S, Okuno T, Nomura Y, Ando N, Ishigaki K, Ohkawara B, Masuda A, Natsume J, Kojima S, Sokabe M, Ohno K.
    Neuromuscul Disord; 2015 Jan 15; 25(1):60-9. PubMed ID: 25264167
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  • 36. Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
    Shen XM, Brengman JM, Shen S, Durmus H, Preethish-Kumar V, Yuceyar N, Vengalil S, Nalini A, Deymeer F, Sine SM, Engel AG.
    JCI Insight; 2018 Jan 25; 3(2):. PubMed ID: 29367459
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  • 37. [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 25; 29(4):145-51. PubMed ID: 19764481
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  • 38. Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report.
    Gooneratne IK, Nandasiri S, Maxwell S, Webster R, Cossins J, Beeson D, Gunaratne K, Herath L, Senanayake S, Chang T.
    J Neuromuscul Dis; 2021 Aug 25; 8(1):163-167. PubMed ID: 33216040
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  • 39. Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
    Shen XM, Brengman JM, Sine SM, Engel AG.
    J Clin Invest; 2012 Jul 25; 122(7):2613-21. PubMed ID: 22728938
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  • 40. Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy.
    Fidziańska A, Glinka Z.
    Acta Neuropathol; 2006 Aug 25; 112(2):185-93. PubMed ID: 16788822
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