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Journal Abstract Search


168 related items for PubMed ID: 29367459

  • 1. 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]

  • 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 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 12; 331():113375. PubMed ID: 32504635
    [Abstract] [Full Text] [Related]

  • 4. 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 12; 128(Pt 2):345-55. PubMed ID: 15615813
    [Abstract] [Full Text] [Related]

  • 5. Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
    Shen XM, Brengman JM, Sine SM, Engel AG.
    J Clin Invest; 2012 Jul 12; 122(7):2613-21. PubMed ID: 22728938
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 7. End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
    Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A, Beeson D.
    Brain; 2001 Jul 12; 124(Pt 7):1362-72. PubMed ID: 11408331
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  • 11. 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
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  • 14. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.
    Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM.
    J Gen Physiol; 2000 Sep 12; 116(3):449-62. PubMed ID: 10962020
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  • 16. Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.
    Outteryck O, Richard P, Lacour A, Fournier E, Zéphir H, Gaudon K, Eymard B, Hantaï D, Vermersch P, Stojkovic T.
    J Neurol Neurosurg Psychiatry; 2009 Apr 12; 80(4):450-1. PubMed ID: 19289485
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  • 17. Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
    Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D.
    Neuromuscul Disord; 2004 Jan 12; 14(1):24-32. PubMed ID: 14659409
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  • 18. 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
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  • 19. 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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  • 20. 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 15; 24(2):143-7. PubMed ID: 24295813
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