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Volumn 47, Issue 12, 2010, Pages 795-796

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

Author keywords

[No Author keywords available]

Indexed keywords

RAPSYN;

EID: 78649634244     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.081034     Document Type: Article
Times cited : (12)

References (10)
  • 1
    • 18744401389 scopus 로고    scopus 로고
    • Current understanding of congenital myasthenic syndromes
    • Engel AG, Sine SM. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005;5:308-21.
    • (2005) Curr Opin Pharmacol , vol.5 , pp. 308-321
    • Engel, A.G.1    Sine, S.M.2
  • 6
    • 1242316360 scopus 로고    scopus 로고
    • Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine
    • Banwell BL, Ohno K, Sieb JP, Engel AG. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord 2004;14:202-7.
    • (2004) Neuromuscul Disord , vol.14 , pp. 202-207
    • Banwell, B.L.1    Ohno, K.2    Sieb, J.P.3    Engel, A.G.4
  • 7
    • 4544345761 scopus 로고    scopus 로고
    • Congenital myasthenic syndrome due to rapsyn deficiency: Three cases with arthrogryposis and bulbar symptoms
    • Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. Neuropediatrics 2004;35:246-9.
    • (2004) Neuropediatrics , vol.35 , pp. 246-249
    • Ioos, C.1    Barois, A.2    Richard, P.3    Eymard, B.4    Hantaï, D.5    Estournet-Mathiaud, B.6
  • 9
    • 5144232958 scopus 로고    scopus 로고
    • A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
    • DOI 10.1016/j.nmd.2004.06.010, PII S0960896604001993
    • Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord 2004;14:744-9. (Pubitemid 39346382)
    • (2004) Neuromuscular Disorders , vol.14 , Issue.11 , pp. 744-749
    • Muller, J.S.1    Abicht, A.2    Christen, H.-J.3    Stucka, R.4    Schara, U.5    Mortier, W.6    Huebner, A.7    Lochmuller, H.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.