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133 related items for PubMed ID: 8651643

  • 1. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.
    Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW.
    Ann Neurol; 1996 Jun; 39(6):712-23. PubMed ID: 8651643
    [Abstract] [Full Text] [Related]

  • 2. 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; 40(5):810-7. PubMed ID: 8957026
    [Abstract] [Full Text] [Related]

  • 3. 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; 45(4):439-43. PubMed ID: 10211467
    [Abstract] [Full Text] [Related]

  • 4. [Congenital diseases of neuromuscular transmission: congenital myasthenia syndromes].
    Sieb JP.
    Nervenarzt; 1995 Feb; 66(2):105-10. PubMed ID: 7715748
    [Abstract] [Full Text] [Related]

  • 5. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
    Ohno K, Anlar B, Ozdirim E, Brengman JM, DeBleecker JL, Engel AG.
    Ann Neurol; 1998 Aug; 44(2):234-41. PubMed ID: 9708546
    [Abstract] [Full Text] [Related]

  • 6. Congenital myasthenic syndromes: experiments of nature.
    Engel AG, Ohno K, Sine SM.
    J Physiol Paris; 1998 Apr; 92(2):113-7. PubMed ID: 9782453
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.
    Abicht A, Müller-Felber W, Fischer P, Jakob I, Kürz L, Rudel R, Mortier W, Pongratz D, Lochmüller H.
    Eur J Med Res; 1997 Dec 31; 2(12):515-22. PubMed ID: 9498929
    [Abstract] [Full Text] [Related]

  • 9. Mechanism of verapamil action on wild-type and slow-channel mutant human muscle acetylcholine receptor.
    Moriconi C, Di Castro MA, Fucile S, Eusebi F, Grassi F.
    J Neurochem; 2010 Aug 31; 114(4):1231-40. PubMed ID: 20533996
    [Abstract] [Full Text] [Related]

  • 10. 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 31; 45(5):982-5. PubMed ID: 7538206
    [Abstract] [Full Text] [Related]

  • 11. Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel.
    Engel AG, Uchitel OD, Walls TJ, Nagel A, Harper CM, Bodensteiner J.
    Ann Neurol; 1993 Jul 31; 34(1):38-47. PubMed ID: 7685992
    [Abstract] [Full Text] [Related]

  • 12. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
    Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.
    Hum Mol Genet; 1996 Sep 31; 5(9):1217-27. PubMed ID: 8872460
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Congenital myasthenic syndromes: progress over the past decade.
    Engel AG, Ohno K, Sine SM.
    Muscle Nerve; 2003 Jan 13; 27(1):4-25. PubMed ID: 12508290
    [Abstract] [Full Text] [Related]

  • 15. 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 13; 6(5):753-66. PubMed ID: 9158150
    [Abstract] [Full Text] [Related]

  • 16. Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
    Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J.
    Hum Mol Genet; 1997 May 13; 6(5):767-74. PubMed ID: 9158151
    [Abstract] [Full Text] [Related]

  • 17. [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse].
    Ohno K, Ito M, Masuda A.
    Nihon Shinkei Seishin Yakurigaku Zasshi; 2009 Aug 13; 29(4):145-51. PubMed ID: 19764481
    [Abstract] [Full Text] [Related]

  • 18. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
    Sieb JP, Kraner S, Schrank B, Reitter B, Goebel TH, Tzartos SJ, Steinlein OK.
    Ann Neurol; 2000 Sep 13; 48(3):379-83. PubMed ID: 10976646
    [Abstract] [Full Text] [Related]

  • 19. Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
    Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmüller H.
    Neuropediatrics; 2002 Oct 13; 33(5):249-54. PubMed ID: 12536367
    [Abstract] [Full Text] [Related]

  • 20. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
    Maselli RA, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL.
    Muscle Nerve; 2003 Sep 13; 28(3):293-301. PubMed ID: 12929188
    [Abstract] [Full Text] [Related]

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