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Practical Neurology
Volumn 13, Issue 2, 2013, Pages 80-91
Congenital myasthenic syndromes: An update
Author keywords

[No Author keywords available]
Indexed keywords

ANIMAL; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; FEMALE; GENETICS; HUMAN; MALE; MIDDLE AGED; MUSCLE WEAKNESS; NEUROMUSCULAR SYNAPSE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW; SYNAPSE; YOUNG ADULT;
EID: 84875781557     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/practneurol-2012-000404     Document Type: Review
Times cited : (62)
References (8)
  • 1
    • 39749165133 scopus 로고    scopus 로고
    • Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    • Mihaylova V, Müller JS, Vilchez JJ, et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008;131:747-59.
    • (2008) Brain , vol.131 , pp. 747-759
    • Mihaylova, V.1    Müller, J.S.2    Vilchez, J.J.3
  • 2
    • 2442533155 scopus 로고    scopus 로고
    • Distinct phenotypes of congenital acetylcholine receptor deficiency
    • Burke G, Cossins J, Maxwell S, et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 2004;14:356-64.
    • (2004) Neuromuscul Disord , vol.14 , pp. 356-364
    • Burke, G.1    Cossins, J.2    Maxwell, S.3
  • 3
    • 10744220964 scopus 로고    scopus 로고
    • Rapsyn mutations in hereditary myasthenia
    • Burke G, Cossins J, Maxwell S, et al. Rapsyn mutations in hereditary myasthenia. Neurology 2003;61:826-8.
    • (2003) Neurology , vol.61 , pp. 826-828
    • Burke, G.1    Cossins, J.2    Maxwell, S.3
  • 4
    • 77952144985 scopus 로고    scopus 로고
    • Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
    • Lashley D, Palace J, Jayawant S, et al. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 2010;74:1517-23.
    • (2010) Neurology , vol.74 , pp. 1517-1523
    • Lashley, D.1    Palace, J.2    Jayawant, S.3
  • 5
    • 84862587015 scopus 로고    scopus 로고
    • Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
    • Guergueltcheva V, Müller JS, Dusl M, et al. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 2012;259:838-50.
    • (2012) J Neurol , vol.259 , pp. 838-850
    • Guergueltcheva, V.1    Müller, J.S.2    Dusl, M.3
  • 6
    • 84863985182 scopus 로고    scopus 로고
    • Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
    • Belaya K, Finlayson S, Slater CR, et al. Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates. Am J Hum Genet 2012;91:193-201.
    • (2012) Am J Hum Genet , vol.91 , pp. 193-201
    • Belaya, K.1    Finlayson, S.2    Slater, C.R.3
  • 7
    • 84862514328 scopus 로고    scopus 로고
    • A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
    • Chaouch A, Müller JS, Guergueltcheva V, et al. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 2012;259:474-81.
    • (2012) J Neurol , vol.259 , pp. 474-481
    • Chaouch, A.1    Müller, J.S.2    Guergueltcheva, V.3
  • 8
    • 84856347131 scopus 로고    scopus 로고
    • Clinical features in a series of fast channel congenital myasthenia syndrome
    • Palace J, Lashley D, Bailey S, et al. Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscul Disord 2012;22:112-17.
    • (2012) Neuromuscul Disord , vol.22 , pp. 112-117
    • Palace, J.1    Lashley, D.2    Bailey, S.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.