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    Results: 9

    1.

    Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.

    Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D.

    Muscle Nerve. 2013 Feb;47(2):279-82. doi: 10.1002/mus.23534. Epub 2012 Dec 28.

    PMID:
    23281026
    [PubMed - indexed for MEDLINE]
    2.

    Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

    Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL.

    Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22.

    PMID:
    21175599
    [PubMed - indexed for MEDLINE]
    3.

    Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

    Salih MA, Oystreck DT, Al-Faky YH, Kabiraj M, Omer MI, Subahi EM, Beeson D, Abu-Amero KK, Bosley TM.

    J Neuroophthalmol. 2011 Mar;31(1):42-7. doi: 10.1097/WNO.0b013e3181f50bea.

    PMID:
    21150643
    [PubMed - indexed for MEDLINE]
    4.

    Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

    Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H.

    J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):973-7. doi: 10.1136/jnnp.2009.177816. Epub 2010 Jun 20.

    PMID:
    20562457
    [PubMed - indexed for MEDLINE]
    5.

    Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

    Brugnoni R, Maggi L, Canioni E, Moroni I, Pantaleoni C, D'Arrigo S, Riva D, Cornelio F, Bernasconi P, Mantegazza R.

    J Neurol. 2010 Jul;257(7):1119-23. doi: 10.1007/s00415-010-5472-0. Epub 2010 Feb 16.

    PMID:
    20157724
    [PubMed - indexed for MEDLINE]
    6.

    The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

    Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

    Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

    PMID:
    19064877
    [PubMed - indexed for MEDLINE]
    7.

    Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

    Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA.

    J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15.

    PMID:
    18707767
    [PubMed - indexed for MEDLINE]
    8.

    A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

    Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, Koenig J, Echenne B, Hantaï D, Eymard B.

    Neuromuscul Disord. 2007 May;17(5):409-14. Epub 2007 Mar 23.

    PMID:
    17363247
    [PubMed - indexed for MEDLINE]
    9.

    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;129(Pt 10):2784-93. Epub 2006 Aug 17.

    PMID:
    16916845
    [PubMed - indexed for MEDLINE]
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