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Neurology
Volumn 79, Issue 23, 2012, Pages 2288-2290
Clinical/scientific notes
Author keywords

[No Author keywords available]
Indexed keywords

CALPAIN 3; CAVEOLIN 3; COLLAGEN TYPE 6; CREATINE KINASE; DESMIN; EMERIN; LAMIN; RYANODINE RECEPTOR 1; SMOOTH MUSCLE ACTIN;
EID: 84871326573     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827689fb     Document Type: Article
Times cited : (7)
References (7)
  • 1
    • 13444293092 scopus 로고    scopus 로고
    • Automated genomic sequence analysis of the three collagen vi genes: Applications to ullrich congenital muscular dystrophy and bethlem myopathy
    • Lampe AK, Dunn DM, von Niederhausern AC, et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 2005;42:108-120.
    • (2005) J Med Genet , vol.42 , pp. 108-120
    • Lampe, A.K.1    Dunn, D.M.2    Von Niederhausern, A.C.3
  • 2
    • 0036895072 scopus 로고    scopus 로고
    • Bethlem myopathy (bethlem) and ullrich scleroatonic muscular dystrophy: 100th enmc international workshop 23-24 november 2001, naarden, the netherlands
    • Pepe G, Bertini E, Bonaldo P, et al. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 2002;12:984-993.
    • (2002) Neuromuscul Disord , vol.12 , pp. 984-993
    • Pepe, G.1    Bertini, E.2    Bonaldo, P.3
  • 3
    • 20144389374 scopus 로고    scopus 로고
    • Muscle mri in ullrich congenital muscular dystrophy and bethlem myopathy
    • Mercuri E, Lampe A, Allsop J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005;15:303-310.
    • (2005) Neuromuscul Disord , vol.15 , pp. 303-310
    • Mercuri, E.1    Lampe, A.2    Allsop, J.3
  • 4
    • 0034326318 scopus 로고    scopus 로고
    • An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the ryr1 gene encoding the skeletal muscle ryanodine receptor
    • Monnier N, Romero NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000;9:2599-2608.
    • (2000) Hum Mol Genet , vol.9 , pp. 2599-2608
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3
  • 5
    • 0035144733 scopus 로고    scopus 로고
    • Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (acta1) gene
    • Jungbluth H, Sewry CA, Brown SC, et al.Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord 2001;11:35-40.
    • (2001) Neuromuscul Disord , vol.11 , pp. 35-40
    • Jungbluth, H.1    Sewry, C.A.2    Brown, S.C.3
  • 6
    • 33845977054 scopus 로고    scopus 로고
    • Nemaline myopathy with minicores caused by mutation of the cfl2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
    • Agrawal PB, Greenleaf RS, Tomczak KK, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007;80:162-167.
    • (2007) Am J Hum Genet , vol.80 , pp. 162-167
    • Agrawal, P.B.1    Greenleaf, R.S.2    Tomczak, K.K.3
  • 7
    • 70349755728 scopus 로고    scopus 로고
    • Core-rod myopathy caused by mutations in the nebulin gene
    • Romero NB, Lehtokari VL, Quijano-Roy S, et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009;73:1159-1161.
    • (2009) Neurology , vol.73 , pp. 1159-1161
    • Romero, N.B.1    Lehtokari, V.L.2    Quijano-Roy, S.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.