{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T14:11:42Z","timestamp":1742911902468,"version":"3.40.3"},"publisher-location":"New York, NY","reference-count":22,"publisher":"Springer New York","isbn-type":[{"type":"print","value":"9781493986507"},{"type":"electronic","value":"9781493986514"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1007\/978-1-4939-8651-4_28","type":"book-chapter","created":{"date-parts":[[2018,8,31]],"date-time":"2018-08-31T12:51:17Z","timestamp":1535719877000},"page":"455-465","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Systemic and ICV Injections of Antisense Oligos into SMA Mice and Evaluation"],"prefix":"10.1007","author":[{"given":"Tejal","family":"Aslesh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Maruyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshifumi","family":"Yokota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,9,1]]},"reference":[{"issue":"1","key":"28_CR1","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s12041-014-0323-x","volume":"93","author":"F Cali","year":"2014","unstructured":"Cali F, Ruggeri G, Chiavetta V et al (2014) Carrier screening for spinal muscular atrophy in Italian population. J Genet 93(1):179\u2013181","journal-title":"J Genet"},{"issue":"5","key":"28_CR2","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1136\/adc.48.5.386","volume":"48","author":"A Moosa","year":"1973","unstructured":"Moosa A, Dubowitz V (1973) Spinal muscular atrophy in childhood. Two clues to clinical diagnosis. Arch Dis Child 48(5):386\u2013388","journal-title":"Arch Dis Child"},{"issue":"8","key":"28_CR3","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1038\/nrn2670","volume":"10","author":"AH Burghes","year":"2009","unstructured":"Burghes AH, Beattie CE (2009) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 10(8):597\u2013609. \nhttps:\/\/doi.org\/10.1038\/nrn2670","journal-title":"Nat Rev Neurosci"},{"issue":"3","key":"28_CR4","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/j.pcl.2015.03.010","volume":"62","author":"BT Darras","year":"2015","unstructured":"Darras BT (2015) Spinal muscular atrophies. Pediatr Clin N Am 62(3):743\u2013766. \nhttps:\/\/doi.org\/10.1016\/j.pcl.2015.03.010","journal-title":"Pediatr Clin N Am"},{"issue":"7","key":"28_CR5","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","volume":"152A","author":"TW Prior","year":"2010","unstructured":"Prior TW, Snyder PJ, Rink BD et al (2010) Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 152A(7):1608\u20131616. \nhttps:\/\/doi.org\/10.1002\/ajmg.a.33474","journal-title":"Am J Med Genet A"},{"issue":"3","key":"28_CR6","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1007\/s004390100473","volume":"108","author":"CF Rochette","year":"2001","unstructured":"Rochette CF, Gilbert N, Simard LR (2001) SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum Genet 108(3):255\u2013266","journal-title":"Hum Genet"},{"issue":"6","key":"28_CR7","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1517\/14712598.2014.896335","volume":"14","author":"A Touznik","year":"2014","unstructured":"Touznik A, Lee JJ, Yokota T (2014) New developments in exon skipping and splice modulation therapies for neuromuscular diseases. Expert Opin Biol Ther 14(6):809\u2013819. \nhttps:\/\/doi.org\/10.1517\/14712598.2014.896335","journal-title":"Expert Opin Biol Ther"},{"issue":"4","key":"28_CR8","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.1128\/MCB.26.4.1333-1346.2006","volume":"26","author":"NK Singh","year":"2006","unstructured":"Singh NK, Singh NN, Androphy EJ et al (2006) Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol 26(4):1333\u20131346. \nhttps:\/\/doi.org\/10.1128\/MCB.26.4.1333-1346.2006","journal-title":"Mol Cell Biol"},{"issue":"2","key":"28_CR9","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/nbt0217-99","volume":"35","author":"E Dolgin","year":"2017","unstructured":"Dolgin E (2017) Spinal muscular atrophy approval boosts antisense drugs. Nat Biotechnol 35(2):99\u2013100. \nhttps:\/\/doi.org\/10.1038\/nbt0217-99","journal-title":"Nat Biotechnol"},{"key":"28_CR10","doi-asserted-by":"publisher","first-page":"175628641877693","DOI":"10.1177\/1756286418776932","volume":"11","author":"CD Wurster","year":"2018","unstructured":"Wurster CD, Ludolph AC (2018) Antisense oligonucleotides in neurological disorders. Ther Adv Neurol Disord 11:175628641877693","journal-title":"Ther Adv Neurol Disord"},{"issue":"4","key":"28_CR11","doi-asserted-by":"publisher","first-page":"1584","DOI":"10.1093\/nar\/gkx1239","volume":"46","author":"X Shen","year":"2018","unstructured":"Shen X, Corey DR (2018) Chemistry, mechanism and clinical status of antisense oligonucleotides and duplex RNAs. Nucleic Acids Res 46(4):1584\u20131600","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"28_CR12","doi-asserted-by":"publisher","first-page":"3672","DOI":"10.1038\/s41598-017-03850-2","volume":"7","author":"A Touznik","year":"2017","unstructured":"Touznik A, Maruyama R, Hosoki K et al (2017) LNA\/DNA mixmer-based antisense oligonucleotides correct alternative splicing of the SMN2 gene and restore SMN protein expression in type 1 SMA fibroblasts. Sci Rep 7(1):3672. \nhttps:\/\/doi.org\/10.1038\/s41598-017-03850-2","journal-title":"Sci Rep"},{"issue":"39","key":"28_CR13","doi-asserted-by":"publisher","first-page":"10962","DOI":"10.1073\/pnas.1605731113","volume":"113","author":"SM Hammond","year":"2016","unstructured":"Hammond SM, Hazell G, Shabanpoor F et al (2016) Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proc Natl Acad Sci U S A 113(39):10962\u201310967. \nhttps:\/\/doi.org\/10.1073\/pnas.1605731113","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"28_CR14","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1089\/hum.2012.211","volume":"24","author":"H Zhou","year":"2013","unstructured":"Zhou H, Janghra N, Mitrpant C et al (2013) A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice. Hum Gene Ther 24(3):331\u2013342. \nhttps:\/\/doi.org\/10.1089\/hum.2012.211","journal-title":"Hum Gene Ther"},{"issue":"4","key":"28_CR15","doi-asserted-by":"publisher","first-page":"e62114","DOI":"10.1371\/journal.pone.0062114","volume":"8","author":"C Mitrpant","year":"2013","unstructured":"Mitrpant C, Porensky P, Zhou H et al (2013) Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. PLoS One 8(4):e62114. \nhttps:\/\/doi.org\/10.1371\/journal.pone.0062114","journal-title":"PLoS One"},{"issue":"18","key":"28_CR16","doi-asserted-by":"publisher","first-page":"4832","DOI":"10.1093\/hmg\/ddu198","volume":"23","author":"EY Osman","year":"2014","unstructured":"Osman EY, Miller MR, Robbins KL et al (2014) Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Hum Mol Genet 23(18):4832\u20134845. \nhttps:\/\/doi.org\/10.1093\/hmg\/ddu198","journal-title":"Hum Mol Genet"},{"key":"28_CR17","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/978-1-4939-6817-6_17","volume":"1565","author":"R Maruyama","year":"2017","unstructured":"Maruyama R, Echigoya Y, Caluseriu O et al (2017) Systemic delivery of morpholinos to skip multiple exons in a dog model of Duchenne Muscular Dystrophy. Methods Mol Biol 1565:201\u2013213. \nhttps:\/\/doi.org\/10.1007\/978-1-4939-6817-6_17","journal-title":"Methods Mol Biol"},{"issue":"1","key":"28_CR18","first-page":"1","volume":"6","author":"T Aslesh","year":"2018","unstructured":"Aslesh T, Maruyama R, Yokota T (2018) Skipping multiple exons to treat DMD\u2014promises and challenges. Biomedicine 6(1):1","journal-title":"Biomedicine"},{"key":"28_CR19","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1038\/71709","volume":"24","author":"HM Hsieh-Li","year":"2000","unstructured":"Hsieh-Li HM, Chang J-G, Jong Y-J et al (2000) A mouse model for spinal muscular atrophy. Nat Genet 24:66. \nhttps:\/\/doi.org\/10.1038\/71709","journal-title":"Nat Genet"},{"key":"28_CR20","doi-asserted-by":"publisher","first-page":"10","DOI":"10.3791\/50326","volume":"75","author":"L Sarah","year":"2013","unstructured":"Sarah L, DeVos TMM (2013) Direct intraventricular delivery of drugs to the rodent central nervous system. J Vis Exp 75:10. \nhttps:\/\/doi.org\/10.3791\/50326","journal-title":"J Vis Exp"},{"issue":"4","key":"28_CR21","doi-asserted-by":"publisher","first-page":"e0154723","DOI":"10.1371\/journal.pone.0154723","volume":"11","author":"TL Lin","year":"2016","unstructured":"Lin TL, Chen TH, Hsu YY et al (2016) Selective neuromuscular denervation in Taiwanese severe SMA mouse can be reversed by morpholino antisense oligonucleotides. PLoS One 11(4):e0154723. \nhttps:\/\/doi.org\/10.1371\/journal.pone.0154723","journal-title":"PLoS One"},{"issue":"3","key":"28_CR22","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1152\/physiolgenomics.00025.2005","volume":"21","author":"RD Barber","year":"2005","unstructured":"Barber RD, Harmer DW, Coleman RA, Clark BJ (2005) GAPDH as a housekeeping gene: analysis of GAPDH mRNA expression in a panel of 72 human tissues. Physiol Genomics 21(3):389\u2013395","journal-title":"Physiol Genomics"}],"container-title":["Methods in Molecular Biology","Exon Skipping and Inclusion Therapies"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4939-8651-4_28","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T16:15:25Z","timestamp":1543421725000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4939-8651-4_28"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9781493986507","9781493986514"],"references-count":22,"URL":"https:\/\/doi.org\/10.1007\/978-1-4939-8651-4_28","relation":{},"ISSN":["1064-3745","1940-6029"],"issn-type":[{"type":"print","value":"1064-3745"},{"type":"electronic","value":"1940-6029"}],"subject":[],"published":{"date-parts":[[2018]]}}}