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A."},{"key":"10.1016\/j.mcn.2013.04.005_bb0380","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1021\/ar2002304","article-title":"Peptide vectors for the nonviral delivery of nucleic acids","volume":"45","author":"Hoyer","year":"2012","journal-title":"Acc. Chem. Res."},{"key":"10.1016\/j.mcn.2013.04.005_bb0385","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li","year":"2000","journal-title":"Nat. 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Physiol."},{"key":"10.1016\/j.mcn.2013.04.005_bb0415","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1038\/mt.2008.120","article-title":"Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice","volume":"16","author":"Jearawiriyapaisarn","year":"2008","journal-title":"Mol. Ther."},{"key":"10.1016\/j.mcn.2013.04.005_bb0420","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/ng1207","article-title":"A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy","volume":"34","author":"Kashima","year":"2003","journal-title":"Nat. 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Sci."},{"key":"10.1016\/j.mcn.2013.04.005_bb0435","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/S1474-4422(09)70211-X","article-title":"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","volume":"8","author":"Kinali","year":"2009","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.mcn.2013.04.005_bb0440","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1016\/S0140-6736(83)91252-7","article-title":"Localisation of gene for Becker muscular dystrophy","volume":"322","author":"Kingston","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.mcn.2013.04.005_bb0445","first-page":"950","article-title":"Somatic reversion\/suppression in Duchenne muscular dystrophy (DMD): evience supporting a frame-restoring mechanism in rare dystrophin-positive fibres","volume":"50","author":"Klein","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mcn.2013.04.005_bb0450","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2013.04.005_bb0455","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1261\/rna.7100104","article-title":"Multiple links between transcription and splicing","volume":"10","author":"Kornblihtt","year":"2004","journal-title":"RNA"},{"key":"10.1016\/j.mcn.2013.04.005_bb0480","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1016\/j.bbapap.2010.05.001","article-title":"Dystrophin: more than just the sum of its parts","volume":"1804","author":"Le Rumeur","year":"2010","journal-title":"Biochim. Biophys. 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Genet."},{"key":"10.1016\/j.mcn.2013.04.005_bb0470","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2013.04.005_bb0475","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mcn.2013.04.005_bb0485","doi-asserted-by":"crossref","first-page":"4006","DOI":"10.1093\/nar\/29.19.4006","article-title":"A computational scan for U12-dependent introns in the human genome sequence","volume":"29","author":"Levine","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mcn.2013.04.005_bb0490","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.conb.2008.05.004","article-title":"Function and regulation of local axonal translation","volume":"18","author":"Lin","year":"2008","journal-title":"Curr. Opin. 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Des."},{"key":"10.1016\/j.mcn.2013.04.005_bb0555","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/00125817-200201000-00004","article-title":"Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2","volume":"4","author":"Mailman","year":"2002","journal-title":"Genet. Med."},{"key":"10.1016\/j.mcn.2013.04.005_bb0560","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/mt.2010.261","article-title":"Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice","volume":"19","author":"Malerba","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.mcn.2013.04.005_bb0565","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1517\/17460441.2011.565744","article-title":"Making sense of therapeutics using antisense technology","volume":"6","author":"Malik","year":"2011","journal-title":"Expert Opin. 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Med."},{"key":"10.1016\/j.mcn.2013.04.005_bb0585","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/mt.2011.284","article-title":"Cell-penetrating peptides as versatile vehicles for oligonucleotide delivery","volume":"20","author":"Margus","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.mcn.2013.04.005_bb0590","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2011.09.001","article-title":"Spinal muscular atrophy: a clinical and research update","volume":"46","author":"Markowitz","year":"2012","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.mcn.2013.04.005_bb0595","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1038\/sj.mt.6300200","article-title":"Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence","volume":"15","author":"Marquis","year":"2007","journal-title":"Mol. Ther."},{"key":"10.1016\/j.mcn.2013.04.005_bb0535","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number","volume":"60","author":"McAndrew","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mcn.2013.04.005_bb0540","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1089\/108729002760070803","article-title":"Pharmacokinetics and tissue distribution of a peptide nucleic acid after intravenous administration","volume":"12","author":"McMahon","year":"2002","journal-title":"Antisense Nucleic Acid Drug Dev."},{"key":"10.1016\/j.mcn.2013.04.005_bb0600","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0022-510X(01)00632-3","article-title":"A placebo-controlled trial of gabapentin in spinal muscular atrophy","volume":"191","author":"Miller","year":"2001","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.mcn.2013.04.005_bb0605","doi-asserted-by":"crossref","first-page":"23271","DOI":"10.1074\/jbc.M200851200","article-title":"Identification of a cis-acting element for the regulation of SMN exon 7 splicing","volume":"277","author":"Miyajima","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mcn.2013.04.005_bb0610","doi-asserted-by":"crossref","first-page":"15825","DOI":"10.1074\/jbc.M209271200","article-title":"An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA","volume":"278","author":"Miyaso","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mcn.2013.04.005_bb0615","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","article-title":"An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus","volume":"2","author":"Monaco","year":"1988","journal-title":"Genomics"},{"key":"10.1016\/j.mcn.2013.04.005_bb0620","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2013.04.005_bb0630","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1016\/j.bbamem.2010.02.012","article-title":"Morpholinos and their peptide conjugates: therapeutic promise and challenge for Duchenne muscular dystrophy","volume":"1798","author":"Moulton","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mcn.2013.04.005_bb0625","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1021\/bc034221g","article-title":"Cellular uptake of antisense morpholino oligomers conjugated to arginine-rich peptides","volume":"15","author":"Moulton","year":"2004","journal-title":"Bioconjug. Chem."},{"key":"10.1016\/j.mcn.2013.04.005_bb0635","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1177\/0883073810371004","article-title":"Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management","volume":"25","author":"Moxley","year":"2010","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.mcn.2013.04.005_bb0645","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.nmd.2010.03.005","article-title":"The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009","volume":"20","author":"Muntoni","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.mcn.2013.04.005_bb0640","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: one gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.mcn.2013.04.005_bb0650","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jmoldx.2010.11.012","article-title":"Population carrier screening for spinal muscular atrophy. 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Soc."},{"key":"10.1016\/j.mcn.2013.04.005_bb0665","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/331635a0","article-title":"Expresson of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain","volume":"331","author":"Nudel","year":"1988","journal-title":"Nature"},{"key":"10.1016\/j.mcn.2013.04.005_bb0670","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/mt.2011.232","article-title":"Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy","volume":"20","author":"Osman","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.mcn.2013.04.005_bb0675","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.celrep.2012.05.014","article-title":"A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects","volume":"1","author":"Praveen","year":"2012","journal-title":"Cell Rep."},{"key":"10.1016\/j.mcn.2013.04.005_bb0680","doi-asserted-by":"crossref","first-page":"72ra18","DOI":"10.1126\/scitranslmed.3001777","article-title":"Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy","volume":"3","author":"Passini","year":"2011","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.mcn.2013.04.005_bb0685","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.15.6.409","article-title":"Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy","volume":"15","author":"Pearn","year":"1978","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mcn.2013.04.005_bb0690","doi-asserted-by":"crossref","first-page":"3546","DOI":"10.1016\/S0021-9258(18)53729-7","article-title":"Polynucleotide binding to macrophage scavenger receptors depends on the formation of base-quartet-stabilized four-stranded helices","volume":"268","author":"Pearson","year":"1993","journal-title":"J. Biol. 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