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Arquivos de Neuro-Psiquiatria
Volumn 67, Issue 2 B, 2009, Pages 502-504
Electrophysiological study in synaptic congenital myasthenic syndrome: End-plate acetylcholinesterase deficiency
Author keywords

[No Author keywords available]
Indexed keywords

ACETYLCHOLINESTERASE;
EID: 68049096187     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2009000300024     Document Type: Article
Times cited : (5)
References (10)
  • 1
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    • Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic)
    • Donger C, Krejci E, Serradell AP, et al. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic). Am J Hum Genet 1998;63:967-975.
    • (1998) Am J Hum Genet , vol.63 , pp. 967-975
    • Donger, C.1    Krejci, E.2    Serradell, A.P.3
  • 3
    • 0017474455 scopus 로고
    • A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release
    • Engel AG, Lambert EH, Gomez MR. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol 1977;1:315-330.
    • (1977) Ann Neurol , vol.1 , pp. 315-330
    • Engel, A.G.1    Lambert, E.H.2    Gomez, M.R.3
  • 4
    • 0037233692 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: Progress over the past decade
    • DOI 10.1002/mus.10269
    • Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve 2003; 27:4-25. (Pubitemid 36083439)
    • (2003) Muscle and Nerve , vol.27 , Issue.1 , pp. 4-25
    • Engel, A.G.1    Ohno, K.2    Sine, S.M.3
  • 5
    • 9644310412 scopus 로고    scopus 로고
    • Structural and functional organization of synaptic acetylcholinesterase
    • DOI 10.1016/j.brainresrev.2004.07.019, PII S0165017304001092, Chemical and Electrical Synapses
    • Aldunate R, Casar JC, Brandan E, Inestrosa NC. Structural and functional organization of synaptic acetylcholinesterase. Brain Res Rev 2004;47:96-104. (Pubitemid 39574313)
    • (2004) Brain Research Reviews , vol.47 , Issue.1-3 , pp. 96-104
    • Aldunate, R.1    Casar, J.C.2    Brandan, E.3    Inestrosa, N.C.4
  • 6
    • 0033027785 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: Recent advances
    • DOI 10.1001/archneur.56.2.163
    • Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: recent advances. Arch Neurol 1999;56:163-167. (Pubitemid 29076180)
    • (1999) Archives of Neurology , vol.56 , Issue.2 , pp. 163-167
    • Engel, A.G.1    Ohno, K.2    Sine, S.M.3
  • 7
    • 2942725318 scopus 로고    scopus 로고
    • Neuromuscular junction disorders
    • Dumitru D, Amato AA, Zwarts MJ (Eds). Philadelphia: Hanley & Belfus
    • Amato AA, Dumitru D. Neuromuscular junction disorders. In Dumitru D, Amato AA, Zwarts MJ (Eds). Electrodiagnostic medicine, second edition. Philadelphia: Hanley & Belfus, 2002:1196-1197.
    • (2002) Electrodiagnostic Medicine, Second Edition , pp. 1196-1197
    • Amato, A.A.1    Dumitru, D.2
  • 8
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    • Neuromuscular transmission disorders in childhood
    • Jones HR, Bolton CF, Harper CM (Eds). Philadelphia: Lippincott-Raven
    • Harper CM. Neuromuscular transmission disorders in childhood. In Jones HR, Bolton CF, Harper CM (Eds). Pediatric clinical electromyography. Philadelphia: Lippincott-Raven, 1996:368-372.
    • (1996) Pediatric Clinical Electromyography , pp. 368-372
    • Harper, C.M.1
  • 10
    • 33745561137 scopus 로고    scopus 로고
    • Estudo neurofisiologico na sindrome miastenica congenita do canal lento: Relato de caso
    • DOI 10.1590/S0004-282X2006000200028
    • Lorenzoni PJ, Kay CSK, Arruda WO, Scola RH, Werneck LC. Neurophysiological study in slow-channel congenital myasthenic syndrome: case report. Arq Neuropsiquiatr 2006;64:318-321. (Pubitemid 43979083)
    • (2006) Arquivos de Neuro-Psiquiatria , vol.64 , Issue.2 A , pp. 318-321
    • Lorenzoni, P.J.1    Kay, C.S.K.2    Arruda, W.O.3    Scola, R.H.4    Werneck, L.C.5

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.