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Journal Abstract Search

212 related items for PubMed ID: 32504635

  • 1. 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; 331():113375. PubMed ID: 32504635
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.
    Shen XM, Milone M, Wang HL, Banwell B, Selcen D, Sine SM, Engel AG.
    Ann Clin Transl Neurol; 2019 Oct; 6(10):2066-2078. PubMed ID: 31560172
    [Abstract] [Full Text] [Related]

  • 4. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
    Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG.
    Neurology; 2002 Dec 24; 59(12):1881-8. PubMed ID: 12499478
    [Abstract] [Full Text] [Related]

  • 5. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
    Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG.
    Hum Mutat; 2016 Oct 24; 37(10):1051-9. PubMed ID: 27375219
    [Abstract] [Full Text] [Related]

  • 6. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
    Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D.
    Brain; 2012 Apr 24; 135(Pt 4):1070-80. PubMed ID: 22382357
    [Abstract] [Full Text] [Related]

  • 7. Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
    Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D.
    Neurology; 2004 Apr 13; 62(7):1090-6. PubMed ID: 15079006
    [Abstract] [Full Text] [Related]

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

  • 9. Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
    Shen XM, Brengman J, Neubauer D, Sine SM, Engel AG.
    J Biol Chem; 2016 Feb 12; 291(7):3291-301. PubMed ID: 26698174
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  • 11. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
    Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.
    Ann Neurol; 2002 Jan 12; 51(1):102-12. PubMed ID: 11782989
    [Abstract] [Full Text] [Related]

  • 12. Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.
    Sine SM, Shen XM, Wang HL, Ohno K, Lee WY, Tsujino A, Brengmann J, Bren N, Vajsar J, Engel AG.
    J Gen Physiol; 2002 Oct 12; 120(4):483-96. PubMed ID: 12356851
    [Abstract] [Full Text] [Related]

  • 13. Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
    Shen XM, Nakata T, Mizuno S, Imoto I, Selcen D, Ohno K, Engel AG.
    Ann Clin Transl Neurol; 2023 May 12; 10(5):732-743. PubMed ID: 36891870
    [Abstract] [Full Text] [Related]

  • 14. 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 12; 450(3):178-84. PubMed ID: 15864502
    [Abstract] [Full Text] [Related]

  • 15. Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.
    Shen XM, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG.
    J Clin Invest; 2003 Feb 12; 111(4):497-505. PubMed ID: 12588888
    [Abstract] [Full Text] [Related]

  • 16. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
    Andreux F, Hantaï D, Eymard B.
    Rev Neurol (Paris); 2004 Feb 12; 160(2):163-76. PubMed ID: 15034473
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  • 18. 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 12; 998():138-60. PubMed ID: 14592871
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