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Journal Abstract Search

255 related items for PubMed ID: 7531341

  • 21. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
    Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D.
    J Clin Invest; 2001 Jul; 108(1):125-30. PubMed ID: 11435464
    [Abstract] [Full Text] [Related]

  • 22. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.
    Gomez CM, Gammack JT.
    Neurology; 1995 May; 45(5):982-5. PubMed ID: 7538206
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  • 23. Structural determinants of channel conductance in fetal and adult rat muscle acetylcholine receptors.
    Herlitze S, Villarroel A, Witzemann V, Koenen M, Sakmann B.
    J Physiol; 1996 May 01; 492 ( Pt 3)(Pt 3):775-87. PubMed ID: 8734989
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  • 25. 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 01; 129(Pt 10):2784-93. PubMed ID: 16916845
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  • 26. 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 01; 6(10):2066-2078. PubMed ID: 31560172
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  • 27. Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
    Beeson D, Webster R, Ealing J, Croxen R, Brownlow S, Brydson M, Newsom-Davis J, Slater C, Hatton C, Shelley C, Colquhoun D, Vincent A.
    Ann N Y Acad Sci; 2003 Sep 01; 998():114-24. PubMed ID: 14592868
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  • 28. 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 01; 111(4):497-505. PubMed ID: 12588888
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  • 29. 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 01; 51(1):102-12. PubMed ID: 11782989
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  • 30. 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 01; 450(3):178-84. PubMed ID: 15864502
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  • 31. A distinct contribution of the delta subunit to acetylcholine receptor channel activation revealed by mutations of the M2 segment.
    Chen J, Auerbach A.
    Biophys J; 1998 Jul 01; 75(1):218-25. PubMed ID: 9649381
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  • 32. Spontaneous and agonist-induced openings of an acetylcholine receptor channel composed of bovine muscle alpha-, beta- and delta-subunits.
    Jackson MB, Imoto K, Mishina M, Konno T, Numa S, Sakmann B.
    Pflugers Arch; 1990 Oct 01; 417(2):129-35. PubMed ID: 1707514
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  • 33. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
    Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG.
    J Clin Invest; 1999 Nov 01; 104(10):1403-10. PubMed ID: 10562302
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  • 34. A transgenic mouse model of the slow-channel syndrome.
    Gomez CM, Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH.
    Muscle Nerve; 1996 Jan 01; 19(1):79-87. PubMed ID: 8538674
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  • 38. 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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  • 39. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
    Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroğlu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG.
    Neurology; 1999 Sep 22; 53(5):1076-82. PubMed ID: 10496269
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  • 40. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
    Banwell BL, Ohno K, Sieb JP, Engel AG.
    Neuromuscul Disord; 2004 Mar 22; 14(3):202-7. PubMed ID: 15036330
    [Abstract] [Full Text] [Related]

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