These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

171 related items for PubMed ID: 22728938

  • 1. Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
    Shen XM, Brengman JM, Sine SM, Engel AG.
    J Clin Invest; 2012 Jul; 122(7):2613-21. PubMed ID: 22728938
    [Abstract] [Full Text] [Related]

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

  • 3. 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 12; 135(Pt 4):1070-80. PubMed ID: 22382357
    [Abstract] [Full Text] [Related]

  • 4. Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.
    Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG.
    Neurology; 2012 Jul 31; 79(5):449-54. PubMed ID: 22592360
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 24; 128(Pt 2):345-55. PubMed ID: 15615813
    [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. 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 25; 331():113375. PubMed ID: 32504635
    [Abstract] [Full Text] [Related]

  • 10. 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 25; 450(3):178-84. PubMed ID: 15864502
    [Abstract] [Full Text] [Related]

  • 11. Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
    Webster R, Liu WW, Chaouch A, Lochmüller H, Beeson D.
    Neuromuscul Disord; 2014 Feb 25; 24(2):143-7. PubMed ID: 24295813
    [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 25; 120(4):483-96. PubMed ID: 12356851
    [Abstract] [Full Text] [Related]

  • 13. 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 25; 37(10):1051-9. PubMed ID: 27375219
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 111(4):497-505. PubMed ID: 12588888
    [Abstract] [Full Text] [Related]

  • 15. Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.
    Shen XM, Deymeer F, Sine SM, Engel AG.
    Ann Neurol; 2006 Jul 25; 60(1):128-36. PubMed ID: 16685696
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 25(1):60-9. PubMed ID: 25264167
    [Abstract] [Full Text] [Related]

  • 17. Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.
    Kudryavtsev D, Isaeva A, Barkova D, Spirova E, Mukhutdinova R, Kasheverov I, Tsetlin V.
    Molecules; 2021 Feb 26; 26(5):. PubMed ID: 33652901
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 6(5):753-66. PubMed ID: 9158150
    [Abstract] [Full Text] [Related]

  • 19. 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 26; 51(1):102-12. PubMed ID: 11782989
    [Abstract] [Full Text] [Related]

  • 20. Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
    Ealing J, Webster R, Brownlow S, Abdelgany A, Oosterhuis H, Muntoni F, Vaux DJ, Vincent A, Beeson D.
    Hum Mol Genet; 2002 Nov 15; 11(24):3087-96. PubMed ID: 12417530
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.