메뉴 건너뛰기




Volumn 74, Issue 5, 2013, Pages 637-647

Eteplirsen for the treatment of Duchenne muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

DEFLAZACORT; DYSTROPHIN; ETEPLIRSEN; NEURONAL NITRIC OXIDE SYNTHASE; PLACEBO; PREDNISONE; SARCOGLYCAN;

EID: 84890805770     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23982     Document Type: Article
Times cited : (610)

References (33)
  • 1
    • 84859181514 scopus 로고    scopus 로고
    • Evidence-based path to newborn screening for Duchenne muscular dystrophy
    • Mendell JR, Shilling C, Leslie ND, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012; 71: 304-313.
    • (2012) Ann Neurol , vol.71 , pp. 304-313
    • Mendell, J.R.1    Shilling, C.2    Leslie, N.D.3
  • 2
  • 3
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
    • Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.
    • (2010) Lancet Neurol , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3
  • 4
    • 26944476254 scopus 로고    scopus 로고
    • Quality of life, physical disability and respiratory impairment in Duchenne muscular dystrophy
    • Kohler M, Clarenbach CF, Böni L, et al. Quality of life, physical disability and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med 2005; 172: 1032-1036.
    • (2005) Am J Respir Crit Care Med , vol.172 , pp. 1032-1036
    • Kohler, M.1    Clarenbach, C.F.2    Böni, L.3
  • 5
    • 84869160655 scopus 로고    scopus 로고
    • Improvement of survival in Duchenne muscular dystrophy: Retrospective analysis of 835 patients
    • Passamano L, Taglia A, Palladino A, et al. Improvement of survival in Duchenne muscular dystrophy: retrospective analysis of 835 patients. Acta Myol 2012; 31: 121-125.
    • (2012) Acta Myol , vol.31 , pp. 121-125
    • Passamano, L.1    Taglia, A.2    Palladino, A.3
  • 6
    • 37549034298 scopus 로고    scopus 로고
    • Local dystrophin restoration with antisense oligonucleotide PRO051
    • van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-2686.
    • (2007) N Engl J Med , vol.357 , pp. 2677-2686
    • Van Deutekom, J.C.1    Janson, A.A.2    Ginjaar, I.B.3
  • 7
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali M, Arechavala-Gomeza V, Feng L, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009; 8: 918-928.
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3
  • 8
    • 79955158683 scopus 로고    scopus 로고
    • Systemic administration of PRO051 in Duchenne's muscular dystrophy
    • Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011; 364: 1513-1522.
    • (2011) N Engl J Med , vol.364 , pp. 1513-1522
    • Goemans, N.M.1    Tulinius, M.2    Van Den Akker, J.T.3
  • 9
    • 80051690306 scopus 로고    scopus 로고
    • Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study
    • Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011; 378: 595-605.
    • (2011) Lancet , vol.378 , pp. 595-605
    • Cirak, S.1    Arechavala-Gomeza, V.2    Guglieri, M.3
  • 10
    • 61649097962 scopus 로고    scopus 로고
    • Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
    • Aartsma-Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 2009; 30: 293-299.
    • (2009) Hum Mutat , vol.30 , pp. 293-299
    • Aartsma-Rus, A.1    Fokkema, I.2    Verschuuren, J.3
  • 11
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: One gene, several proteins, multiple phenotypes
    • Muntoni F, Torelli S, Ferlini A,. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2: 731-740.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 12
    • 0027537918 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy
    • Bushby KM, GardnerMedwin D,. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 1993; 240: 98104.
    • (1993) I. Natural History. J Neurol , vol.240 , pp. 98104
    • Bushby, K.M.1    Gardnermedwin, D.2
  • 13
    • 34848904544 scopus 로고    scopus 로고
    • Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle
    • Arechavala-Gomeza V, Graham IR, Popplewell LJ, et al. Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum Gene Ther 2007; 18: 798-810.
    • (2007) Hum Gene Ther , vol.18 , pp. 798-810
    • Arechavala-Gomeza, V.1    Graham, I.R.2    Popplewell, L.J.3
  • 14
    • 77957725001 scopus 로고    scopus 로고
    • Dystrophin immunity revealed by gene therapy in Duchenne muscular dystrophy
    • Mendell JR, Campbell K, Rodino-Klapac L, et al. Dystrophin immunity revealed by gene therapy in Duchenne muscular dystrophy. N Engl J Med 2010; 363: 1429-1437.
    • (2010) N Engl J Med , vol.363 , pp. 1429-1437
    • Mendell, J.R.1    Campbell, K.2    Rodino-Klapac, L.3
  • 15
    • 0027365063 scopus 로고
    • Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy
    • Nguyen TM, Morris GE,. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. Am J Hum Genet 1993; 52: 1057-1066.
    • (1993) Am J Hum Genet , vol.52 , pp. 1057-1066
    • Nguyen, T.M.1    Morris, G.E.2
  • 16
    • 77952372081 scopus 로고    scopus 로고
    • Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression
    • Arechavala-Gomeza V, Kinali M, Feng L, et al. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol 2010; 36: 265-274.
    • (2010) Neuropathol Appl Neurobiol , vol.36 , pp. 265-274
    • Arechavala-Gomeza, V.1    Kinali, M.2    Feng, L.3
  • 17
    • 0026637764 scopus 로고
    • Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
    • Klein CJ, Coovert DD, Bulman DE, et al. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet 1992; 50: 950-959.
    • (1992) Am J Hum Genet , vol.50 , pp. 950-959
    • Klein, C.J.1    Coovert, D.D.2    Bulman, D.E.3
  • 18
    • 0028833771 scopus 로고
    • Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: Mechanisms of dystrophin production
    • Winnard AV, Mendell JR, Prior TW, et al. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet 1995; 56: 158-166.
    • (1995) Am J Hum Genet , vol.56 , pp. 158-166
    • Winnard, A.V.1    Mendell, J.R.2    Prior, T.W.3
  • 19
    • 77950210043 scopus 로고    scopus 로고
    • The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy
    • McDonald CM, Henricson EK, Han JJ, et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve 2010; 41: 500-510.
    • (2010) Muscle Nerve , vol.41 , pp. 500-510
    • McDonald, C.M.1    Henricson, E.K.2    Han, J.J.3
  • 20
    • 80051478879 scopus 로고    scopus 로고
    • Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study
    • Mazzone E, Vasco G, Sormani MP, et al. Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology 2011; 77: 250-256.
    • (2011) Neurology , vol.77 , pp. 250-256
    • Mazzone, E.1    Vasco, G.2    Sormani, M.P.3
  • 21
    • 78649647875 scopus 로고    scopus 로고
    • The 6-minute walk test in Duchenne/Becker muscular dystrophy: Longitudinal observations
    • McDonald CM, Henricson EK, Han JJ, et al. The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. Muscle Nerve 2010; 42: 966-974.
    • (2010) Muscle Nerve , vol.42 , pp. 966-974
    • McDonald, C.M.1    Henricson, E.K.2    Han, J.J.3
  • 22
    • 84883050768 scopus 로고    scopus 로고
    • The 6-minute walk test and other clinical endpoints in severe dystrophinopathy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study
    • 2013; May 14. [Epub ahead of print].
    • McDonald CM, Henricson EK, Abresch RT, et al. The 6-minute walk test and other clinical endpoints in severe dystrophinopathy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve 2013; May 14. [Epub ahead of print].
    • Muscle Nerve
    • McDonald, C.M.1    Henricson, E.K.2    Abresch, R.T.3
  • 23
    • 84883051727 scopus 로고    scopus 로고
    • The 6-minute walk test and other endpoints in nonsense-mutation-mediated dystrophinopathy: Longitudinal natural history observations in a multicenter study
    • 2013 May 16. [Epub ahead of print].
    • McDonald CM, Henricson, EK, Abresch, RT, et al. The 6-minute walk test and other endpoints in nonsense-mutation-mediated dystrophinopathy: longitudinal natural history observations in a multicenter study. Muscle Nerve 2013 May 16. [Epub ahead of print].
    • Muscle Nerve
    • McDonald, C.M.1    Henricson, E.K.2    Abresch, R.T.3
  • 24
    • 33646133422 scopus 로고    scopus 로고
    • Therapeutics in Duchenne muscular dystrophy
    • Strober JB,. Therapeutics in Duchenne muscular dystrophy. NeuroRx 2006; 3: 225-234.
    • (2006) NeuroRx , vol.3 , pp. 225-234
    • Strober, J.B.1
  • 25
    • 33747209013 scopus 로고    scopus 로고
    • A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
    • Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006; 8: 456-473.
    • (2006) Genet Med , vol.8 , pp. 456-473
    • Muenzer, J.1    Wraith, J.E.2    Beck, M.3
  • 26
    • 0037149718 scopus 로고    scopus 로고
    • Bosentan therapy for pulmonary arterial hypertension
    • erratum 1258
    • Rubin LJ, Badesch DB, Barst RJ, et al. Bosentan therapy for pulmonary arterial hypertension. N Engl J Med 2002; 346: 896-903; erratum 1258.
    • (2002) N Engl J Med , vol.346 , pp. 896-903
    • Rubin, L.J.1    Badesch, D.B.2    Barst, R.J.3
  • 27
    • 77950963839 scopus 로고    scopus 로고
    • A randomized study of alglucosidase alfa in late onset Pompe's disease
    • van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late onset Pompe's disease. N Engl J Med 2010; 362: 1396-1406.
    • (2010) N Engl J Med , vol.362 , pp. 1396-1406
    • Van Der Ploeg, A.T.1    Clemens, P.R.2    Corzo, D.3
  • 28
    • 79955520497 scopus 로고    scopus 로고
    • Six-minute-walk test in idiopathic pulmonary fibrosis: Test validation and minimal clinically important difference
    • du Bois RM, Weycker D, Albera C, et al. Six-minute-walk test in idiopathic pulmonary fibrosis: test validation and minimal clinically important difference. Am J Respir Crit Care Med 2011; 183: 1231-1237.
    • (2011) Am J Respir Crit Care Med , vol.183 , pp. 1231-1237
    • Du Bois, R.M.1    Weycker, D.2    Albera, C.3
  • 29
    • 0034641893 scopus 로고    scopus 로고
    • Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophy
    • Ahmad A, Brinson M, Hodges BL, et al. Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophy. Hum Mol Genet 2000; 9: 2507-2515.
    • (2000) Hum Mol Genet , vol.9 , pp. 2507-2515
    • Ahmad, A.1    Brinson, M.2    Hodges, B.L.3
  • 30
    • 80052513011 scopus 로고    scopus 로고
    • Restoring dystrophin expression in Duchenne muscular dystrophy muscle: Progress in exon skipping and stop codon read through
    • Hoffman EP, Bronson A, Levin AA, et al. Restoring dystrophin expression in Duchenne muscular dystrophy muscle: progress in exon skipping and stop codon read through. Am J Pathol 2011; 179: 12-22.
    • (2011) Am J Pathol , vol.179 , pp. 12-22
    • Hoffman, E.P.1    Bronson, A.2    Levin, A.A.3
  • 31
    • 34547691961 scopus 로고    scopus 로고
    • Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse
    • Fletcher S, Honeyman K, Fall AM, et al. Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse. Mol Ther 2007; 15: 1587-1592.
    • (2007) Mol Ther , vol.15 , pp. 1587-1592
    • Fletcher, S.1    Honeyman, K.2    Fall, A.M.3
  • 32
    • 63449141811 scopus 로고    scopus 로고
    • Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs
    • Yokota T, Lu QL, Partridge T, et al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol 2009; 65: 667-676.
    • (2009) Ann Neurol , vol.65 , pp. 667-676
    • Yokota, T.1    Lu, Q.L.2    Partridge, T.3
  • 33
    • 0347003516 scopus 로고    scopus 로고
    • Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense
    • Aartsma-Rus A, Janson AA, Kaman WE, et al. Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 2004; 74: 83-92.
    • (2004) Am J Hum Genet , vol.74 , pp. 83-92
    • Aartsma-Rus, A.1    Janson, A.A.2    Kaman, W.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.