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Neuromuscular Disorders
Volumn 9, Issue 3, 1999, Pages 129-130
Familial infantile myasthenia: Confusion in terminology
Author keywords

[No Author keywords available]
Indexed keywords

EATON LAMBERT SYNDROME; FAMILIAL DISEASE; GENETIC ANALYSIS; HUMAN; INFANT; MYASTHENIA GRAVIS; NOTE; PRIORITY JOURNAL;
EID: 0032783055     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00004-8     Document Type: Article
Times cited : (8)
References (10)
  • 1
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    • Familial infantile myasthenia gravis: A cause of sudden death in young children
    • Conomy J.P., Levinsohn M., Fanaroff A. Familial infantile myasthenia gravis: a cause of sudden death in young children. J Pediatr. 87:1975;428-430.
    • (1975) J Pediatr , vol.87 , pp. 428-430
    • Conomy, J.P.1    Levinsohn, M.2    Fanaroff, A.3
  • 2
    • 0018906837 scopus 로고
    • Kornguth, S.E. Familial infantile myasthenia
    • Robertson W.C., Raymond W.M., Chun M.D. Kornguth, S.E. Familial infantile myasthenia. Arch Neurol. 37:1980;117-119.
    • (1980) Arch Neurol , vol.37 , pp. 117-119
    • Robertson, W.C.1    Raymond, W.M.2    Chun, M.D.3
  • 3
    • 0021959058 scopus 로고
    • Familial infantile myasthenia gravis: Report of three cases with follow-up until adult life
    • Gieron M.A., Korthals J.K. Familial infantile myasthenia gravis: report of three cases with follow-up until adult life. Arch Neurol. 42:1985;143-144.
    • (1985) Arch Neurol , vol.42 , pp. 143-144
    • Gieron, M.A.1    Korthals, J.K.2
  • 4
    • 0017853723 scopus 로고
    • Clinical syndromes of myasthenia in infancy and childhood: A review
    • Fenichel G.M. Clinical syndromes of myasthenia in infancy and childhood: a review. Arch Neurol. 35:1978;97-103.
    • (1978) Arch Neurol , vol.35 , pp. 97-103
    • Fenichel, G.M.1
  • 5
    • 0023139468 scopus 로고
    • Synaptic vesicle abnormality in familial infantile myasthenia
    • Mora M., Lambert E.H., Engel A.G. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology. 37:1987;206-214.
    • (1987) Neurology , vol.37 , pp. 206-214
    • Mora, M.1    Lambert, E.H.2    Engel, A.G.3
  • 6
    • 0000530033 scopus 로고
    • A congenital, familial myasthenic syndrome caused by a presynaptic defect of transmitter resynthesis or mobilization
    • Hart Z.W., Sahashi K., Lambert E.H., Engel A.G., Lindstrom J.M. A congenital, familial myasthenic syndrome caused by a presynaptic defect of transmitter resynthesis or mobilization. Neurology. 29:1979;556-557.
    • (1979) Neurology , vol.29 , pp. 556-557
    • Hart, Z.W.1    Sahashi, K.2    Lambert, E.H.3    Engel, A.G.4    Lindstrom, J.M.5
  • 7
    • 0029923443 scopus 로고    scopus 로고
    • Report of the 34th ENMC International Workshop - congenital myasthenia syndromes
    • Middleton L.T. Report of the 34th ENMC International Workshop - congenital myasthenia syndromes. Neuromusc Disord. 6:1996;133-136.
    • (1996) Neuromusc Disord , vol.6 , pp. 133-136
    • Middleton, L.T.1
  • 8
    • 8244240433 scopus 로고    scopus 로고
    • Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity
    • Christodoulou K, Tsingis M, Deymeer Fet al. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. Hum Mol Gen. 16:1997;635-640.
    • (1997) Hum Mol Gen , vol.16 , pp. 635-640
    • Christodoulou, K.1    Tsingis, M.2    Deymeer, F.3
  • 9
    • 0005269088 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes (CMS) linked to chromosome 17p are caused by defects in acetylcholine receptor (AChR) ε subunit gene
    • (S67.003)
    • Middleton LT, Ohno K, Christodoulou K, et al. Congenital myasthenic syndromes (CMS) linked to chromosome 17p are caused by defects in acetylcholine receptor (AChR) ε subunit gene. Neurology 1998;50(Suppl. 4):A432 (S67.003).
    • (1998) Neurology , vol.50 , Issue.4 SUPPL.
    • Middleton, L.T.1    Ohno, K.2    Christodoulou, K.3
  • 10
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    • End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
    • Engel A.G., Ohno K., Bouzat C., Sine S.M., Griggs R. End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit. Ann Neurol. 40:1996;810-817.
    • (1996) Ann Neurol , vol.40 , pp. 810-817
    • Engel, A.G.1    Ohno, K.2    Bouzat, C.3    Sine, S.M.4    Griggs, R.5

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.