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Volumn 1, Issue 1, 2014, Pages 91-94

Prolonged ambulation in duchenne patients with a mutation amenable to exon 44 skipping

Author keywords

Disease progression; Duchenne muscular dystrophy; Exon skipping

Indexed keywords

DYSTROPHIN;

EID: 84949954964     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140002     Document Type: Article
Times cited : (49)

References (10)
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    • Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule
    • Aartsma-Rus, A., Van Deutekom, J. C., Fokkema, I. F., Van Ommen, G. J., and Den Dunnen, J. T. Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006; 34(2): 135-144.
    • (2006) Muscle Nerve , vol.34 , Issue.2 , pp. 135-144
    • Aartsma-Rus, A.1    Van Deutekom, J.C.2    Fokkema, I.F.3    Van Ommen, G.J.4    Den Dunnen, J.T.5
  • 2
    • 84872374881 scopus 로고    scopus 로고
    • The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice
    • Ferlini, A., Neri, M., and Gualandi, F. The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice. Neuromuscul Disord. 2013; 23(1): 4-14.
    • (2013) Neuromuscul Disord , vol.23 , Issue.1 , pp. 4-14
    • Ferlini, A.1    Neri, M.2    Gualandi, F.3
  • 4
    • 42949155147 scopus 로고    scopus 로고
    • Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
    • Kesari, A., Pirra, L. N., Bremadesam, L., McIntyre, O., Gordon, E., Dubrovsky, A. L., Viswanathan, V., and Hoffman, E. P. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat. 2008; 29(5): 728-737.
    • (2008) Hum Mutat , vol.29 , Issue.5 , pp. 728-737
    • Kesari, A.1    Pirra, L.N.2    Bremadesam, L.3    McIntyre, O.4    Gordon, E.5    Dubrovsky, A.L.6    Viswanathan, V.7    Hoffman, E.P.8
  • 6
    • 0026343877 scopus 로고
    • Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
    • Roberts, R. G., Barby, T. F., Manners, E., Bobrow, M., and Bentley, D. R. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet. 1991; 49(2): 298-310.
    • (1991) Am J Hum Genet , vol.49 , Issue.2 , pp. 298-310
    • Roberts, R.G.1    Barby, T.F.2    Manners, E.3    Bobrow, M.4    Bentley, D.R.5
  • 10
    • 84878746211 scopus 로고    scopus 로고
    • The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne Muscular Dystrophy patients with different exon deletions
    • Lourbakos, A, Sipkens, J, Beekman, C, Kreuger, D, Brasz, L, Janson, A, Campion, G, Van Deutekom, J. C., and de Kipme, S. The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne Muscular Dystrophy patients with different exon deletions. Neuromuscul Disord. 2011; 21: 643.
    • (2011) Neuromuscul Disord , vol.21 , pp. 643
    • Lourbakos, A.1    Sipkens, J.2    Beekman, C.3    Kreuger, D.4    Brasz, L.5    Janson, A.6    Campion, G.7    Van Deutekom, J.C.8    De Kipme, S.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.