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125 related items for PubMed ID: 15471888

  • 1. A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
    Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D.
    Hum Mol Genet; 2004 Dec 01; 13(23):2947-57. PubMed ID: 15471888
    [Abstract] [Full Text] [Related]

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  • 3. 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 01; 6(5):753-66. PubMed ID: 9158150
    [Abstract] [Full Text] [Related]

  • 4. Different functions of fetal and adult AChR subtypes for the formation and maintenance of neuromuscular synapses revealed in epsilon-subunit-deficient mice.
    Schwarz H, Giese G, Müller H, Koenen M, Witzemann V.
    Eur J Neurosci; 2000 Sep 01; 12(9):3107-16. PubMed ID: 10998094
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  • 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
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  • 7. Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch.
    Missias AC, Chu GC, Klocke BJ, Sanes JR, Merlie JP.
    Dev Biol; 1996 Oct 10; 179(1):223-38. PubMed ID: 8873766
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  • 8. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
    Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC.
    Ann Neurol; 1996 Nov 10; 40(5):810-7. PubMed ID: 8957026
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  • 9. Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.
    Gomez CM, Maselli RA, Groshong J, Zayas R, Wollmann RL, Cens T, Charnet P.
    J Neurosci; 2002 Aug 01; 22(15):6447-57. PubMed ID: 12151524
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  • 11. Neural factors regulate AChR subunit mRNAs at rat neuromuscular synapses.
    Witzemann V, Brenner HR, Sakmann B.
    J Cell Biol; 1991 Jul 01; 114(1):125-41. PubMed ID: 1646821
    [Abstract] [Full Text] [Related]

  • 12. Formation of cholinergic synapse-like specializations at developing murine muscle spindles.
    Zhang Y, Wesolowski M, Karakatsani A, Witzemann V, Kröger S.
    Dev Biol; 2014 Sep 15; 393(2):227-235. PubMed ID: 25064185
    [Abstract] [Full Text] [Related]

  • 13. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.
    Croxen R, Newland C, Betty M, Vincent A, Newsom-Davis J, Beeson D.
    Ann Neurol; 1999 Oct 15; 46(4):639-47. PubMed ID: 10514102
    [Abstract] [Full Text] [Related]

  • 14. Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.
    Nichols P, Croxen R, Vincent A, Rutter R, Hutchinson M, Newsom-Davis J, Beeson D.
    Ann Neurol; 1999 Apr 15; 45(4):439-43. PubMed ID: 10211467
    [Abstract] [Full Text] [Related]

  • 15. Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit.
    Missias AC, Mudd J, Cunningham JM, Steinbach JH, Merlie JP, Sanes JR.
    Development; 1997 Dec 15; 124(24):5075-86. PubMed ID: 9362465
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 108(1):125-30. PubMed ID: 11435464
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.
    Sieb JP, Kraner S, Rauch M, Steinlein OK.
    Hum Genet; 2000 Aug 13; 107(2):160-4. PubMed ID: 11030414
    [Abstract] [Full Text] [Related]

  • 19. Assembly of an adult type acetylcholine receptor in a mouse cell line transfected with rat muscle epsilon-subunit DNA.
    Criado M, Koenen M, Sakmann B.
    FEBS Lett; 1990 Sep 17; 270(1-2):95-9. PubMed ID: 1699795
    [Abstract] [Full Text] [Related]

  • 20. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
    Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG.
    Proc Natl Acad Sci U S A; 1995 Jan 31; 92(3):758-62. PubMed ID: 7531341
    [Abstract] [Full Text] [Related]

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