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Volumn 9, Issue 2, 2002, Pages 132-144

Nemaline and myotubular myopathies

Author keywords

[No Author keywords available]

Indexed keywords

NEBULIN;

EID: 0035996037     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1053/spen.2002.33804     Document Type: Article
Times cited : (15)

References (77)
  • 17
    • 0024533110 scopus 로고
    • Nemaline myopathy: Comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms
    • (1989) Pediatr Neurol , vol.5 , pp. 25-31
    • Shimomura, C.1    Nonaka, I.2
  • 30
    • 0028852835 scopus 로고
    • A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
    • published erratum appears in Nat Genet 10(2): 249, 1995
    • (1995) Nat Genet , vol.9 , pp. 75-79
    • Laing, N.G.1    Wilton, S.D.2    Akkari, P.A.3
  • 32
    • 0034326318 scopus 로고    scopus 로고
    • An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR 1 gene encoding the skeletal muscle ryanodine receptor
    • (2000) Hum Mol Genet , vol.9 , pp. 2599-2608
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3
  • 39
  • 50
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • (1996) Nat Genet , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3
  • 53
    • 0025279786 scopus 로고
    • Myotubular myopathy: Arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin: Four cases compared with fetal and neonatal muscle
    • (1990) Can J Neurol Sci , vol.17 , pp. 109-123
    • Sarnat, H.B.1
  • 63
    • 0034703432 scopus 로고    scopus 로고
    • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
    • (2000) Hum Mol Genet , vol.9 , pp. 2223-2229
    • Blondeau, F.1    Laporte, J.2    Bodin, S.3
  • 69
    • 0028969635 scopus 로고
    • Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
    • (1995) Am J Hum Genet , vol.56 , pp. 1108-1115
    • Dahl, N.1    Hu, L.J.2    Chery, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.