메뉴 건너뛰기




Volumn 30, Issue 10, 2011, Pages 797-804

Congenital myasthenic syndromes;Kongenitale myasthene syndrome

Author keywords

Congenital myasthenic syndromes; Diagnostic work up; Genotype; Phenotype; Treatment

Indexed keywords

CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DIAGNOSTIC TEST; HUMAN; REVIEW;

EID: 80054057675     PISSN: 07221541     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (2)

References (20)
  • 1
    • 34250738143 scopus 로고
    • Congenital myasthenic syndromes
    • Pagon RA et al. (eds). Seattle, WA: University of Washington
    • Abicht A, Lochmüller H. Congenital myasthenic syndromes. In: Pagon RA et al. (eds). GeneReviews [Internet]. Seattle, WA: University of Washington 1993.
    • (1993) GeneReviews [Internet]
    • Abicht, A.1    Lochmüller, H.2
  • 2
    • 78751649774 scopus 로고    scopus 로고
    • Current approach to seronegative myasthenia
    • Agrov Z. Current approach to seronegative myasthenia. J Neurol 2011; 258: 14-18.
    • (2011) J Neurol , vol.258 , pp. 14-18
    • Agrov, Z.1
  • 3
    • 33646585179 scopus 로고    scopus 로고
    • Long-term improvement of slowchannel congenital myasthenic syndrome with fluoxetine
    • Colomer J et al. Long-term improvement of slowchannel congenital myasthenic syndrome with fluoxetine. Neuromuscul Disord 2006; 16: 329-333.
    • (2006) Neuromuscul Disord , vol.16 , pp. 329-333
    • Colomer, J.1
  • 5
    • 18744401389 scopus 로고    scopus 로고
    • Current understanding of congenital myasthenic syndromes
    • DOI 10.1016/j.coph.2004.12.007, PII S1471489205000433
    • Engel AG, Sine SM. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005; 5(3): 308-21. (Pubitemid 40674255)
    • (2005) Current Opinion in Pharmacology , vol.5 , Issue.3 SPEC. ISS. , pp. 308-321
    • Engel, A.G.1    Sine, S.M.2
  • 6
    • 75049083573 scopus 로고    scopus 로고
    • What have we learned from the congenital myasthenic syndroms
    • Engel AG, Shen XM, Selcen D, Sine SM. What have we learned from the congenital myasthenic syndroms. J Mol Neurosci 2010; 50: 143-153.
    • (2010) J Mol Neurosci , vol.50 , pp. 143-153
    • Engel, A.G.1    Shen, X.M.2    Selcen, D.3    Sine, S.M.4
  • 8
    • 68349151039 scopus 로고    scopus 로고
    • Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
    • Huzé C et al. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet 2009; 85(2): 155-67.
    • (2009) Am J Hum Genet , vol.85 , Issue.2 , pp. 155-167
    • Huzé, C.1
  • 9
    • 51649123667 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes in childhood: Diagnostic and management challenges
    • Kinali M et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008; 201-202: 6-12.
    • (2008) J Neuroimmunol , vol.201-202 , pp. 6-12
    • Kinali, M.1
  • 10
    • 77952144985 scopus 로고    scopus 로고
    • Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
    • Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 2010; 74(19): 1517-23.
    • (2010) Neurology , vol.74 , Issue.19 , pp. 1517-1523
    • Lashley, D.1    Palace, J.2    Jayawant, S.3    Robb, S.4    Beeson, D.5
  • 11
    • 62149126975 scopus 로고    scopus 로고
    • Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
    • Maselli RA et al. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet 2009; 46(3): 203-8.
    • (2009) J Med Genet , vol.46 , Issue.3 , pp. 203-208
    • Maselli, R.A.1
  • 12
    • 73349142353 scopus 로고    scopus 로고
    • Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes
    • Mihaylova V et al. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. Neurology 2009; 73: 1926-8.
    • (2009) Neurology , vol.73 , pp. 1926-1928
    • Mihaylova, V.1
  • 13
    • 34547905761 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: Spotlight on genetic defects of neuromuscular transmission
    • DOI 10.1017/S1462399407000427, PII S1462399407000427
    • Müller JS, Mihaylova V, Abicht A, Lochmüller H. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 2007; 9: 1-20. (Pubitemid 47261141)
    • (2007) Expert Reviews in Molecular Medicine , vol.9 , Issue.22 , pp. 1-20
    • Muller, J.S.1    Mihaylova, V.2    Abicht, A.3    Lochmuller, H.4
  • 15
    • 80054087585 scopus 로고    scopus 로고
    • Kongenitale myasthene Syndrome -vom Symptom zur Diagnose
    • Schara U et al. Kongenitale myasthene Syndrome -vom Symptom zur Diagnose. Päd 2007; 13: 102-114.
    • (2007) Päd , vol.13 , pp. 102-114
    • Schara, U.1
  • 16
    • 53049097589 scopus 로고    scopus 로고
    • Therapeutic strategies in congenital myasthenic syndromes
    • Schara U, Lochmüller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 2008; 5: 542-547.
    • (2008) Neurotherapeutics , vol.5 , pp. 542-547
    • Schara, U.1    Lochmüller, H.2
  • 17
    • 70449526159 scopus 로고    scopus 로고
    • Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
    • Schara U et al. Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord 2009; 19: 828-32.
    • (2009) Neuromuscul Disord , vol.19 , pp. 828-832
    • Schara, U.1
  • 18
    • 77953121725 scopus 로고    scopus 로고
    • Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
    • Schara U et al. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations. Eur J Paediatr Neurol 2010; 14: 326-33.
    • (2010) Eur J Paediatr Neurol , vol.14 , pp. 326-333
    • Schara, U.1
  • 19
    • 79851494905 scopus 로고    scopus 로고
    • Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
    • Senderek J et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011; 88(2): 162-72.
    • (2011) Am J Hum Genet , vol.88 , Issue.2 , pp. 162-172
    • Senderek, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.