{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:19:07Z","timestamp":1790302747075,"version":"4.1.0"},"reference-count":214,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":770,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Research Committee of Spinal muscular atrophy (SMA)"},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Science, Sports and Culture of Japan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001349","name":"National Medical Research Council of Singapore","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001352","name":"National University of Singapore","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001352","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1111\/ahg.12031","type":"journal-article","created":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T17:43:03Z","timestamp":1374687783000},"page":"435-463","source":"Crossref","is-referenced-by-count":84,"title":["Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials"],"prefix":"10.1111","volume":"77","author":[{"given":"Dian K.","family":"Nurputra","sequence":"first","affiliation":[{"name":"Department of Community Medicine and Social Health Care; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poh San","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Paediatrics; Yong Loo Lin School of Medicine; National University of Singapore; Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nur Imma F.","family":"Harahap","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Health Care; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Morikawa","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Health Care; Kobe University Graduate School of Medicine; Kobe Japan"},{"name":"Department of Pediatrics; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoto","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Health Care; Kobe University Graduate School of Medicine; Kobe Japan"},{"name":"Department of Pediatrics; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Health Care; Kobe University Graduate School of Medicine; Kobe Japan"},{"name":"Department of Pediatrics; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Kubo","sequence":"additional","affiliation":[{"name":"Branch of Genetic Medicine; Advanced Biomedical Engineering and Science; Graduate School of Medicine; Tokyo Women's Medical University; Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Kobe Pharmaceutical University; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neurology; Toneyama National Hospital; Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Takeshima","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Health Care; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Tohyama","sequence":"additional","affiliation":[{"name":"Faculty of Pharmaceutical Sciences; Himeji Dokkyo University; Himeji Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey KH","family":"Tay","sequence":"additional","affiliation":[{"name":"Department of Paediatrics; Yong Loo Lin School of Medicine; National University of Singapore; Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poh Sim","family":"Low","sequence":"additional","affiliation":[{"name":"Department of Paediatrics; Yong Loo Lin School of Medicine; National University of Singapore; Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics; Tokyo Women's Medical University; Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisahide","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Kobe University Graduate School of Medicine; Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,23]]},"reference":[{"key":"10.1111\/ahg.12031-BIB0001|ahg12031-cit-0001","first-page":"188","article-title":"Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR","volume":"14","author":"Abbaszadegan","year":"2011","journal-title":"Arch Iranian Med"},{"key":"10.1111\/ahg.12031-BIB0002|ahg12031-cit-0002","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1097\/AOG.0b013e3181a6d03a","article-title":"ACOG committee opinion no. 432: spinal muscular atrophy","volume":"113","author":"ACOG","year":"2009","journal-title":"Obstet Gynecol"},{"key":"10.1111\/ahg.12031-BIB0003|ahg12031-cit-0003","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1210\/endo-108-4-1333","article-title":"Hyperprolactinemia-induced precocious puberty: studies on the mechanism(s) by which prolactin enhances ovarian progesterone responsiveness to gonadothropins in prepubertal rats","volume":"108","author":"Advis","year":"1981","journal-title":"Endocrinology"},{"key":"10.1111\/ahg.12031-BIB0004|ahg12031-cit-0004","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1530\/jrf.0.0830879","article-title":"Mechanisms of precocious puberty induced in male rats by pituitary grafts","volume":"83","author":"Aguilar","year":"1988","journal-title":"J Reprod Fertil"},{"key":"10.1111\/ahg.12031-BIB0005|ahg12031-cit-0005","doi-asserted-by":"crossref","first-page":"10337","DOI":"10.1073\/pnas.1104928108","article-title":"Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits","volume":"108","author":"Akten","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0006|ahg12031-cit-0006","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/sj.ejhg.5201102","article-title":"Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy","volume":"12","author":"Andreassi","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0007|ahg12031-cit-0007","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/hmg\/10.24.2841","article-title":"Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients","volume":"10","author":"Andreassi","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0008|ahg12031-cit-0008","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/jmg.2007.051177","article-title":"Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells","volume":"45","author":"Angelozzi","year":"2008","journal-title":"J Med Genet"},{"key":"10.1111\/ahg.12031-BIB0009|ahg12031-cit-0009","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/humu.10221","article-title":"Determination of SMN1 and SMN2 copy number using TaqMan technology","volume":"22","author":"Anhuf","year":"2003","journal-title":"Hum Mut"},{"key":"10.1111\/ahg.12031-BIB0010|ahg12031-cit-0010","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/j.nmd.2006.08.011","article-title":"Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy","volume":"16","author":"Arkblad","year":"2006","journal-title":"Neuromusc Disorder"},{"key":"10.1111\/ahg.12031-BIB0011|ahg12031-cit-0011","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1172\/JCI29562","article-title":"Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy","volume":"117","author":"Avila","year":"2007","journal-title":"J Clin Invest"},{"key":"10.1111\/ahg.12031-BIB0012|ahg12031-cit-0012","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1172\/JCI22922","article-title":"Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy","volume":"114","author":"Azzouz","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1111\/ahg.12031-BIB0013|ahg12031-cit-0013","doi-asserted-by":"crossref","first-page":"e1000773.","DOI":"10.1371\/journal.pgen.1000773","article-title":"Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy","volume":"5","author":"B\u00e4umer","year":"2009","journal-title":"PloS Genet"},{"key":"10.1111\/ahg.12031-BIB0014|ahg12031-cit-0014","doi-asserted-by":"crossref","first-page":"11288","DOI":"10.1523\/JNEUROSCI.1764-10.2010","article-title":"In Vivo NMDA ceceptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice","volume":"30","author":"Biondi","year":"2010","journal-title":"Jour Neurosci"},{"key":"10.1111\/ahg.12031-BIB0015|ahg12031-cit-0015","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1124\/jpet.107.123000","article-title":"Identification and characterization of cholest-4-en-3-one, oxime (TRO19622), a novel drug candidate for amyotrophic lateral sclerosis","volume":"322","author":"Bordet","year":"2007","journal-title":"J Pharmacol Exp Ther"},{"key":"10.1111\/ahg.12031-BIB0016|ahg12031-cit-0016","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1093\/hmg\/ddr067","article-title":"Increased IGF-1 in muscle modulates the phenotype of severe SMA mice","volume":"20","author":"Bosch-Marc\u00e9","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0017|ahg12031-cit-0017","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.mcn.2009.05.009","article-title":"SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis","volume":"42","author":"Bowerman","year":"2009","journal-title":"Mol Cell Neurosci"},{"key":"10.1111\/ahg.12031-BIB0018|ahg12031-cit-0018","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1093\/hmg\/ddq021","article-title":"Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model","volume":"19","author":"Bowerman","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0019|ahg12031-cit-0019","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1741-7015-10-24","article-title":"Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy","volume":"10","author":"Bowerman","year":"2012","journal-title":"BMC medicine"},{"key":"10.1111\/ahg.12031-BIB0020|ahg12031-cit-0020","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s12031-007-0024-5","article-title":"Smn depletion alters profilin II expression and leads to upregulation of the RhoA\/ROCK pathway and defects in neuronal integrity","volume":"32","author":"Bowerman","year":"2007","journal-title":"J Mol Neurosci"},{"key":"10.1111\/ahg.12031-BIB0021|ahg12031-cit-0021","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/sj.ejhg.5201320","article-title":"Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients","volume":"13","author":"Brahe","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0022|ahg12031-cit-0022","doi-asserted-by":"crossref","first-page":"4280","DOI":"10.1523\/JNEUROSCI.2728-12.2013","article-title":"Shift from extracellular signal-regulated kinase to AKT\/cAMP responsive element-binding protein pathway increases survival-motor-neuron expression in Spinal Muscular Atrophy-like mice and patient cells","volume":"33","author":"Branchu","year":"2013","journal-title":"J Neurosci"},{"key":"10.1111\/ahg.12031-BIB0023|ahg12031-cit-0023","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1093\/hmg\/ddg256","article-title":"Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy","volume":"12","author":"Brichta","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0024|ahg12031-cit-0024","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"key":"10.1111\/ahg.12031-BIB0025|ahg12031-cit-0025","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nrn2670","article-title":"Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?","volume":"10","author":"Burghes","year":"2009","journal-title":"Nat Rev Neurosci"},{"issue":"5","key":"10.1111\/ahg.12031-BIB0026|ahg12031-cit-0026","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1128\/MCB.01262-08","article-title":"Regulation of SMN protein stability","volume":"29","author":"Burnett","year":"2009","journal-title":"Mol Cell Biol"},{"key":"10.1111\/ahg.12031-BIB0027|ahg12031-cit-0027","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng1195-335","article-title":"A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients","volume":"11","author":"Bussaglia","year":"1995","journal-title":"Nat Genet"},{"key":"10.1111\/ahg.12031-BIB0028|ahg12031-cit-0028","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.bbrc.2009.11.148","article-title":"Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy","volume":"391","author":"Butchbach","year":"2010a","journal-title":"Biochem Biophys Res Comm"},{"key":"10.1111\/ahg.12031-BIB0029|ahg12031-cit-0029","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1093\/hmg\/ddp510","article-title":"Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy","volume":"19","author":"Butchbach","year":"2010b","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0030|ahg12031-cit-0030","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1086\/513886","article-title":"Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype","volume":"61","author":"Campbell","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0031|ahg12031-cit-0031","doi-asserted-by":"crossref","first-page":"11014","DOI":"10.1523\/JNEUROSCI.1637-06.2006","article-title":"Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis","volume":"26","author":"Carrel","year":"2006","journal-title":"J Neurosci"},{"key":"10.1111\/ahg.12031-BIB0032|ahg12031-cit-0032","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat Genet"},{"key":"10.1111\/ahg.12031-BIB0033|ahg12031-cit-0033","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/nsb887","article-title":"Correction of disease-associated exon skipping by synthetic exon-specific activators","volume":"10","author":"Cartegni","year":"2003","journal-title":"Nat Struct Biol"},{"key":"10.1111\/ahg.12031-BIB0034|ahg12031-cit-0034","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1002\/bies.201000088","article-title":"SMN and Gemins: \u2018we are family\u2019 \u2026 or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN","volume":"32","author":"Cauchi","year":"2010","journal-title":"BioEssays"},{"key":"10.1111\/ahg.12031-BIB0035|ahg12031-cit-0035","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1007\/s00415-004-0487-z","article-title":"Carrier incidence for spinal muscular atrophy in southern Chinese","volume":"251","author":"Chan","year":"2004","journal-title":"J Neurol"},{"key":"10.1111\/ahg.12031-BIB0036|ahg12031-cit-0036","doi-asserted-by":"crossref","first-page":"9808","DOI":"10.1073\/pnas.171105098","article-title":"Treatment of spinal muscular atrophy by sodium butyrate","volume":"98","author":"Chang","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0037|ahg12031-cit-0037","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V","article-title":"Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy","volume":"85","author":"Chen","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1111\/ahg.12031-BIB0038|ahg12031-cit-0038","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1212\/WNL.0b013e3182020332","article-title":"Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy","volume":"75","author":"Chen","year":"2010","journal-title":"Neurology"},{"key":"10.1111\/ahg.12031-BIB0039|ahg12031-cit-0039","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.jns.2011.06.002","article-title":"Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population","volume":"308","author":"Chen","year":"2011","journal-title":"J Neurol Sci"},{"key":"10.1111\/ahg.12031-BIB0040|ahg12031-cit-0040","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1471-2350-10-45","article-title":"Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis","volume":"10","author":"Chen","year":"2009","journal-title":"BMC Med Genet"},{"key":"10.1111\/ahg.12031-BIB0041|ahg12031-cit-0041","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1001\/archneur.64.2.225","article-title":"Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis","volume":"64","author":"Chen","year":"2007","journal-title":"Arch Neurol"},{"key":"10.1111\/ahg.12031-BIB0215|ahg12031-cit-0215","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1101\/gad.1884910","article-title":"A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity","volume":"24","author":"Cho","year":"2010","journal-title":"Gene Deves"},{"key":"10.1111\/ahg.12031-BIB0042|ahg12031-cit-0042","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1093\/hmg\/11.12.1439","article-title":"Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model","volume":"11","author":"Cifuentes-Diaz","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0043|ahg12031-cit-0043","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/humu.20092","article-title":"Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations","volume":"24","author":"Clermont","year":"2004","journal-title":"Hum Mut"},{"key":"10.1111\/ahg.12031-BIB0044|ahg12031-cit-0044","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1038\/sj.mt.6300222","article-title":"Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing","volume":"15","author":"Coady","year":"2007","journal-title":"Mol Ther"},{"key":"10.1111\/ahg.12031-BIB0045|ahg12031-cit-0045","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1523\/JNEUROSCI.4489-09.2010","article-title":"Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy","volume":"30","author":"Coady","year":"2010","journal-title":"J Neurosci"},{"key":"10.1111\/ahg.12031-BIB0046|ahg12031-cit-0046","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0047|ahg12031-cit-0047","doi-asserted-by":"crossref","first-page":"3316","DOI":"10.1172\/JCI35432","article-title":"Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy","volume":"118","author":"Corti","year":"2008","journal-title":"J Clin invest"},{"key":"10.1111\/ahg.12031-BIB0048|ahg12031-cit-0048","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/brain\/awp318","article-title":"Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice","volume":"133","author":"Corti","year":"2010","journal-title":"Brain"},{"key":"10.1111\/ahg.12031-BIB0049|ahg12031-cit-0049","doi-asserted-by":"crossref","first-page":"e33572","DOI":"10.1371\/journal.pone.0033572","article-title":"Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study","volume":"7","author":"Crawford","year":"2012","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0050|ahg12031-cit-0050","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/humu.10144","article-title":"Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene","volume":"20","author":"Cusc\u00f3","year":"2002","journal-title":"Hum Mut"},{"key":"10.1111\/ahg.12031-BIB0051|ahg12031-cit-0051","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1373\/clinchem.2012.183038","article-title":"Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling","volume":"58","author":"Dobrowolski","year":"2012","journal-title":"Clin Chem"},{"key":"10.1111\/ahg.12031-BIB0052|ahg12031-cit-0052","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddq514","article-title":"Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice","volume":"20","author":"Dominguez","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0053|ahg12031-cit-0053","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/sj.ejhg.5201268","article-title":"Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene","volume":"13","author":"Eggermann","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0054|ahg12031-cit-0054","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1523\/JNEUROSCI.3631-10.2011","article-title":"The survival motor neuron (SMN protein) interacts with the mRNA-binding protein HuD and regulates in primary motor neuron axons","volume":"31","author":"Fallini","year":"2011","journal-title":"J Neurosci"},{"key":"10.1111\/ahg.12031-BIB0055|ahg12031-cit-0055","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.brainres.2012.01.044","article-title":"Spinal muscular atrophy: The role of SMN in axonal mRNA regulation","volume":"1462","author":"Fallini","year":"2012","journal-title":"Brain Res"},{"key":"10.1111\/ahg.12031-BIB0056|ahg12031-cit-0056","doi-asserted-by":"crossref","first-page":"3042","DOI":"10.1172\/JCI46276","article-title":"Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway","volume":"121","author":"Farooq","year":"2011","journal-title":"J Clin Invest"},{"key":"10.1111\/ahg.12031-BIB0057|ahg12031-cit-0057","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0058|ahg12031-cit-0058","doi-asserted-by":"crossref","first-page":"e35462","DOI":"10.1371\/journal.pone.0035462","article-title":"Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study","volume":"7","author":"Finkel","year":"2012","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0059|ahg12031-cit-0059","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0092-8674(00)80368-2","article-title":"The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis","volume":"90","author":"Fischer","year":"1997","journal-title":"Cell"},{"key":"10.1111\/ahg.12031-BIB0060|ahg12031-cit-0060","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat Biotech"},{"key":"10.1111\/ahg.12031-BIB0061|ahg12031-cit-0061","doi-asserted-by":"crossref","first-page":"3645","DOI":"10.1093\/hmg\/ddp313","article-title":"LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate","volume":"18","author":"Garbes","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0062|ahg12031-cit-0062","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1093\/hmg\/dds437","article-title":"VPA response in SMA is suppressed by the fatty acid translocase CD36","volume":"22","author":"Garbes","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0063|ahg12031-cit-0063","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1006\/bbrc.1995.2135","article-title":"Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients","volume":"213","author":"Gennarelli","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1111\/ahg.12031-BIB0064|ahg12031-cit-0064","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/345823a0","article-title":"Genetic homogeneity between acute and chronic forms of spinal muscular atrophy","volume":"345","author":"Gilliam","year":"1990","journal-title":"Nature"},{"key":"10.1111\/ahg.12031-BIB0065|ahg12031-cit-0065","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1097\/GIM.0b013e3181ef6079","article-title":"Carrier testing for spinal muscular atrophy","volume":"12","author":"Gitlin","year":"2010","journal-title":"Genet Med"},{"key":"10.1111\/ahg.12031-BIB0066|ahg12031-cit-0066","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.nmd.2009.11.014","article-title":"The Children's Hospital of Philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability","volume":"20","author":"Glanzman","year":"2010","journal-title":"Neuromusc Disord"},{"key":"10.1111\/ahg.12031-BIB0067|ahg12031-cit-0067","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s10048-007-0093-1","article-title":"Robust quantification of the SMN gene copy number by real-time TaqMan PCR","volume":"8","author":"G\u00f3mez-Curet","year":"2007","journal-title":"Neurogenet"},{"key":"10.1111\/ahg.12031-BIB0068|ahg12031-cit-0068","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/ana.20548","article-title":"Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells","volume":"58","author":"Grzeschik","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1111\/ahg.12031-BIB0069|ahg12031-cit-0069","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.yexcr.2004.03.022","article-title":"The SMN complex","volume":"296","author":"Gubitz","year":"2004","journal-title":"Exp Cell Res"},{"key":"10.1111\/ahg.12031-BIB0070|ahg12031-cit-0070","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1471-4159.2006.03868.x","article-title":"In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy","volume":"98","author":"Hahnen","year":"2006","journal-title":"J Neurochem"},{"key":"10.1111\/ahg.12031-BIB0071|ahg12031-cit-0071","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/4.10.1927","article-title":"Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals","volume":"4","author":"Hahnen","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0072|ahg12031-cit-0072","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1007\/s00415-002-0811-4","article-title":"Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity","volume":"249","author":"Harada","year":"2002","journal-title":"J Neurol"},{"key":"10.1111\/ahg.12031-BIB0073|ahg12031-cit-0073","doi-asserted-by":"crossref","first-page":"5ra12","DOI":"10.1126\/scitranslmed.3000208","article-title":"Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy","volume":"1","author":"Hastings","year":"2009","journal-title":"Sci Transl Med"},{"key":"10.1111\/ahg.12031-BIB0074|ahg12031-cit-0074","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1093\/hmg\/ddp030","article-title":"Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo","volume":"18","author":"Heier","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0075|ahg12031-cit-0075","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2009.066969","article-title":"Differences in SMN1 allele frequencies among ethnic groups within North America","volume":"46","author":"Hendrickson","year":"2009","journal-title":"J Med Genet"},{"key":"10.1111\/ahg.12031-BIB0076|ahg12031-cit-0076","doi-asserted-by":"crossref","first-page":"9618","DOI":"10.1073\/pnas.160181697","article-title":"Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)","volume":"97","author":"Hofmann","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0077|ahg12031-cit-0077","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/hmg\/11.17.2037","article-title":"hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1","volume":"11","author":"Hofmann","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0078|ahg12031-cit-0078","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 Genet"},{"key":"10.1111\/ahg.12031-BIB0079|ahg12031-cit-0079","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1111\/j.1476-5381.2012.01829.x","article-title":"Triptolide increases transcript and protein levels of survival motor neurons in human SMA fibroblasts and improves survival in SMA-like mice","volume":"166","author":"Hsu","year":"2012","journal-title":"B J Pharmacol"},{"key":"10.1111\/ahg.12031-BIB0080|ahg12031-cit-0080","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1101\/gad.1941310","article-title":"Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model","volume":"24","author":"Hua","year":"2010","journal-title":"Genes Dev"},{"key":"10.1111\/ahg.12031-BIB0081|ahg12031-cit-0081","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/nature10485","article-title":"Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model","volume":"478","author":"Hua","year":"2011","journal-title":"Nature"},{"key":"10.1111\/ahg.12031-BIB0082|ahg12031-cit-0082","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2008.01.014","article-title":"Antisense masking of an hnRNP A1\/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice","volume":"82","author":"Hua","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0083|ahg12031-cit-0083","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/hmg\/ddq500","article-title":"HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects","volume":"20","author":"Hubers","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0084|ahg12031-cit-0084","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/37144","article-title":"Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy","volume":"390","author":"Iwahashi","year":"1997","journal-title":"Nature"},{"key":"10.1111\/ahg.12031-BIB0085|ahg12031-cit-0085","doi-asserted-by":"crossref","first-page":"10126","DOI":"10.1073\/pnas.152318699","article-title":"Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death","volume":"99","author":"Jablonka","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1111\/ahg.12031-BIB0086|ahg12031-cit-0086","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1093\/hmg\/ddi205","article-title":"Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy","volume":"14","author":"Jarecki","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0087|ahg12031-cit-0087","doi-asserted-by":"crossref","first-page":"4906","DOI":"10.1093\/hmg\/ddq425","article-title":"A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2","volume":"19","author":"Jodelka","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0088|ahg12031-cit-0088","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 Genet"},{"key":"10.1111\/ahg.12031-BIB0089|ahg12031-cit-0089","doi-asserted-by":"crossref","first-page":"3426","DOI":"10.1073\/pnas.0700343104","article-title":"An intronic element contributes to splicing repression in spinal muscular atrophy","volume":"104","author":"Kashima","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0090|ahg12031-cit-0090","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1177\/0883073809333535","article-title":"Oral administration of the thyrotropin-releasing hormone (TRH) analogue, taltireline hydrate, in spinal muscular atrophy","volume":"24","author":"Kato","year":"2009","journal-title":"J Child Neurol"},{"key":"10.1111\/ahg.12031-BIB0091|ahg12031-cit-0091","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1136\/jme.2004.008219","article-title":"Newborn screening: new developments, new dilemmas","volume":"31","author":"Kerruish","year":"2005","journal-title":"J Med Ethics"},{"key":"10.1111\/ahg.12031-BIB0092|ahg12031-cit-0092","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1212\/WNL.59.4.609","article-title":"Pilot trial of albuterol in spinal muscular atrophy","volume":"59","author":"Kinali","year":"2002","journal-title":"Neurology"},{"key":"10.1111\/ahg.12031-BIB0093|ahg12031-cit-0093","doi-asserted-by":"crossref","first-page":"e21296","DOI":"10.1371\/journal.pone.0021296","article-title":"SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy","volume":"6","author":"Kissel","year":"2011","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0094|ahg12031-cit-0094","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy: a timely review","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch Neurol"},{"key":"10.1111\/ahg.12031-BIB0095|ahg12031-cit-0095","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1523\/JNEUROSCI.4434-08.2009","article-title":"Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice","volume":"29","author":"Kong","year":"2009","journal-title":"J Neurosci"},{"key":"10.1111\/ahg.12031-BIB0096|ahg12031-cit-0096","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1007\/s00415-006-0410-x","article-title":"A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins","volume":"254","author":"Kotani","year":"2007","journal-title":"J Neurol"},{"key":"10.1111\/ahg.12031-BIB0097|ahg12031-cit-0097","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.nmd.2006.03.015","article-title":"A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy","volume":"16","author":"Krosschell","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ahg.12031-BIB0098|ahg12031-cit-0098","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN","volume":"14","author":"Le","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0099|ahg12031-cit-0099","doi-asserted-by":"crossref","first-page":"870","DOI":"10.3346\/jkms.2004.19.6.870","article-title":"Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR","volume":"19","author":"Lee","year":"2004","journal-title":"J Korean Med Sci"},{"key":"10.1111\/ahg.12031-BIB0100|ahg12031-cit-0100","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":"10.1111\/ahg.12031-BIB0101|ahg12031-cit-0101","doi-asserted-by":"crossref","first-page":"e28078","DOI":"10.1371\/journal.pone.0028078","article-title":"Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis","volume":"6","author":"Li","year":"2011","journal-title":"PloS One"},{"key":"10.1111\/ahg.12031-BIB0102|ahg12031-cit-0102","doi-asserted-by":"crossref","first-page":"45476","DOI":"10.1074\/jbc.M107632200","article-title":"Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing","volume":"276","author":"Lim","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1111\/ahg.12031-BIB0103|ahg12031-cit-0103","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/hmg\/ddr453","article-title":"Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy","volume":"21","author":"Ling","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0104|ahg12031-cit-0104","doi-asserted-by":"crossref","first-page":"253.e1","DOI":"10.1016\/j.ajog.2010.01.032","article-title":"The cost-effectiveness of prenatal screening for spinal muscular atrophy","volume":"202","author":"Little","year":"2010","journal-title":"Am J Obs Gynecol"},{"key":"10.1111\/ahg.12031-BIB0105|ahg12031-cit-0105","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1002\/j.1460-2075.1996.tb00725.x","article-title":"A novel nuclear structure containing the survival of motor neurons protein","volume":"15","author":"Liu","year":"1996","journal-title":"EMBO J"},{"key":"10.1111\/ahg.12031-BIB0106|ahg12031-cit-0106","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0107|ahg12031-cit-0107","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0598-63","article-title":"SMN oligomerization defect correlates with spinal muscular atrophy severity","volume":"19","author":"Lorson","year":"1998","journal-title":"Nat Genet"},{"key":"10.1111\/ahg.12031-BIB0108|ahg12031-cit-0108","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","article-title":"An SMN-dependent U12 splicing event essential for motor circuit function","volume":"151","author":"Lotti","year":"2012","journal-title":"Cell"},{"key":"10.1111\/ahg.12031-BIB0109|ahg12031-cit-0109","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/j.chembiol.2004.08.024","article-title":"Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism","volume":"11","author":"Lunn","year":"2004","journal-title":"Chem Biol"},{"key":"10.1111\/ahg.12031-BIB0110|ahg12031-cit-0110","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S1090-3798(03)00060-6","article-title":"The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation","volume":"7","author":"Main","year":"2003","journal-title":"Eur J Paed Neurol"},{"key":"10.1111\/ahg.12031-BIB0111|ahg12031-cit-0111","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/nchembio.595","article-title":"A screen for regulators of survival of motor neuron protein levels","volume":"7","author":"Makhortova","year":"2011","journal-title":"Nat Chem Biol"},{"key":"10.1111\/ahg.12031-BIB0112|ahg12031-cit-0112","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nrm2124","article-title":"Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs","volume":"8","author":"Matera","year":"2007","journal-title":"Nat Rev. Mol Cell Biol"},{"key":"10.1111\/ahg.12031-BIB0113|ahg12031-cit-0113","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/(SICI)1097-0223(199806)18:6<607::AID-PD388>3.0.CO;2-V","article-title":"The prenatal diagnosis of spinal muscular atrophy","volume":"18","author":"Matthijs","year":"1998","journal-title":"Prenatal Diagnosis"},{"key":"10.1111\/ahg.12031-BIB0114|ahg12031-cit-0114","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1093\/hmg\/ddp333","article-title":"Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model","volume":"18","author":"Mattis","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0115|ahg12031-cit-0115","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s00439-006-0245-7","article-title":"Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts","volume":"120","author":"Mattis","year":"2006","journal-title":"Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0116|ahg12031-cit-0116","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":"10.1111\/ahg.12031-BIB0117|ahg12031-cit-0117","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990a","journal-title":"Nature"},{"key":"10.1111\/ahg.12031-BIB0118|ahg12031-cit-0118","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","article-title":"Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators","volume":"336","author":"Melki","year":"1990b","journal-title":"Lancet"},{"key":"10.1111\/ahg.12031-BIB0119|ahg12031-cit-0119","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: controversies and challenges","volume":"11","author":"Mercuri","year":"2012","journal-title":"Lancet Neurol"},{"key":"10.1111\/ahg.12031-BIB0120|ahg12031-cit-0120","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/01.wnl.0000249142.82285.d6","article-title":"Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy","volume":"68","author":"Mercuri","year":"2007","journal-title":"Neurology"},{"key":"10.1111\/ahg.12031-BIB0121|ahg12031-cit-0121","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1177\/08830738030180080501","article-title":"Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study","volume":"18","author":"Merlini","year":"2003","journal-title":"J Child Neurol"},{"key":"10.1111\/ahg.12031-BIB0122|ahg12031-cit-0122","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1093\/hmg\/ddn382","article-title":"Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation","volume":"18","author":"Meyer","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0123|ahg12031-cit-0123","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":"10.1111\/ahg.12031-BIB0124|ahg12031-cit-0124","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":"10.1111\/ahg.12031-BIB0125|ahg12031-cit-0125","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":"10.1111\/ahg.12031-BIB0126|ahg12031-cit-0126","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1089\/gtmb.2010.0237","article-title":"Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations","volume":"15","author":"Morikawa","year":"2011","journal-title":"Genet Test Mol Bio"},{"key":"10.1111\/ahg.12031-BIB0127|ahg12031-cit-0127","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.2119\/molmed.2012.00056","article-title":"IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy","volume":"18","author":"Murdocca","year":"2012","journal-title":"Mol Med"},{"key":"10.1111\/ahg.12031-BIB0128|ahg12031-cit-0128","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.nmd.2006.03.005","article-title":"The gross motor function measureTM is a valid and sensitive outcome measure for spinal muscular atrophy","volume":"16","author":"Nelson","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ahg.12031-BIB0129|ahg12031-cit-0129","first-page":"214","article-title":"Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms","volume":"229","author":"Nizzardo","year":"2011","journal-title":"ExpNeurol"},{"key":"10.1111\/ahg.12031-BIB0130|ahg12031-cit-0130","doi-asserted-by":"crossref","first-page":"4865","DOI":"10.1093\/hmg\/ddr425","article-title":"The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin","volume":"20","author":"Noll\u00eb","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0131|ahg12031-cit-0131","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.10425","article-title":"Genetic risk assessment in carrier testing for spinal muscular atrophy","volume":"110","author":"Ogino","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1111\/ahg.12031-BIB0132|ahg12031-cit-0132","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00439-002-0828-x","article-title":"Genetic testing and risk assessment for spinal muscular atrophy (SMA)","volume":"111","author":"Ogino","year":"2002","journal-title":"Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0133|ahg12031-cit-0133","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"10.1111\/ahg.12031-BIB0134|ahg12031-cit-0134","first-page":"325","article-title":"Ethical problems with neonatal screening","volume":"45","author":"Orzalesi","year":"2009","journal-title":"Annali dell'Istituto superiore di sanita"},{"key":"10.1111\/ahg.12031-BIB0135|ahg12031-cit-0135","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.wnl.0000290830.40544.b9","article-title":"The changing natural history of spinal muscular atrophy type 1","volume":"69","author":"Oskoui","year":"2007","journal-title":"Neurology"},{"key":"10.1111\/ahg.12031-BIB0136|ahg12031-cit-0136","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/hmg\/9.1.47","article-title":"Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord","volume":"9","author":"Pagliardini","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0137|ahg12031-cit-0137","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.nmd.2008.05.004","article-title":"Daily salbutamol in young patients with SMA type II","volume":"18","author":"Pane","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ahg.12031-BIB0138|ahg12031-cit-0138","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1172\/JCI41615","article-title":"CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy","volume":"120","author":"Passini","year":"2010","journal-title":"J Clin Invest"},{"key":"10.1111\/ahg.12031-BIB0139|ahg12031-cit-0139","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":"10.1111\/ahg.12031-BIB0140|ahg12031-cit-0140","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.mcp.2010.07.001","article-title":"Quick MLPA test for quantification of SMN1 and SMN2 copy numbers","volume":"24","author":"Passon","year":"2010","journal-title":"Mol Cell Probes"},{"key":"10.1111\/ahg.12031-BIB0141|ahg12031-cit-0141","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1038\/emboj.2010.19","article-title":"The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy","volume":"29","author":"Pedrotti","year":"2010","journal-title":"EMBO J"},{"key":"10.1111\/ahg.12031-BIB0142|ahg12031-cit-0142","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"10.1111\/ahg.12031-BIB0143|ahg12031-cit-0143","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1038\/sj.embor.7400941","article-title":"Chaperoning ribonucleoprotein biogenesis in health and disease","volume":"8","author":"Pellizoni","year":"2007","journal-title":"EMBO Rep"},{"key":"10.1111\/ahg.12031-BIB0144|ahg12031-cit-0144","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/ddr600","article-title":"A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse","volume":"21","author":"Porensky","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0145|ahg12031-cit-0145","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1177\/0883073807305668","article-title":"Spinal muscular atrophy diagnostics","volume":"22","author":"Prior","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1111\/ahg.12031-BIB0146|ahg12031-cit-0146","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1097\/GIM.0b013e318188d069","article-title":"Carrier screening for spinal muscular atrophy","volume":"10","author":"Prior","year":"2008","journal-title":"Genet Med"},{"key":"10.1111\/ahg.12031-BIB0147|ahg12031-cit-0147","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","article-title":"A positive modifier of spinal muscular atrophy in the SMN2 gene","volume":"85","author":"Prior","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0148|ahg12031-cit-0148","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.ogc.2010.03.001","article-title":"Spinal muscular atrophy: newborn and carrier screening","volume":"37","author":"Prior","year":"2010","journal-title":"Obst and Gynecol Clin North Am"},{"key":"10.1111\/ahg.12031-BIB0149|ahg12031-cit-0149","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","volume":"152A","author":"Prior","year":"2010","journal-title":"Am J Med Genet. Part A"},{"key":"10.1111\/ahg.12031-BIB0150|ahg12031-cit-0150","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.4155\/fmc.10.228","article-title":"Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development","volume":"2","author":"Pruss","year":"2010","journal-title":"Future Med Chem"},{"key":"10.1111\/ahg.12031-BIB0151|ahg12031-cit-0151","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1373\/clinchem.2007.092312","article-title":"Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy","volume":"53","author":"Pyatt","year":"2007","journal-title":"Clin Chem"},{"key":"10.1111\/ahg.12031-BIB0152|ahg12031-cit-0152","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1093\/hmg\/ddq023","article-title":"SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy","volume":"19","author":"Riessland","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0153|ahg12031-cit-0153","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s00439-006-0186-1","article-title":"The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA\/protein levels in spinal muscular atrophy cells","volume":"120","author":"Riessland","year":"2006","journal-title":"Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0154|ahg12031-cit-0154","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s100480050021","article-title":"Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7","volume":"1","author":"Rochette","year":"1997","journal-title":"Neurogenetics"},{"key":"10.1111\/ahg.12031-BIB0155|ahg12031-cit-0155","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J Cell Biol"},{"key":"10.1111\/ahg.12031-BIB0156|ahg12031-cit-0156","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/hmg\/11.1.93","article-title":"Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp\/hnRNP-Q: a role for Smn in RNA processing in motor axons?","volume":"11","author":"Rossoll","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0157|ahg12031-cit-0157","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/nature03180","article-title":"Beta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expression","volume":"433","author":"Rothstein","year":"2005","journal-title":"Nature"},{"key":"10.1111\/ahg.12031-BIB0158|ahg12031-cit-0158","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1001\/archneur.60.11.1601","article-title":"A phase 1 trial of riluzole in spinal muscular atrophy","volume":"60","author":"Russman","year":"2003","journal-title":"Arch Neurol"},{"key":"10.1111\/ahg.12031-BIB0160|ahg12031-cit-0160","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10048-006-0051-3","article-title":"Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification","volume":"7","author":"Scarciolla","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1111\/ahg.12031-BIB0161|ahg12031-cit-0161","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/sj.ejhg.5200404","article-title":"SMA carrier testing-validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion","volume":"8","author":"Scheffer","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0162|ahg12031-cit-0162","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","article-title":"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0163|ahg12031-cit-0163","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1089\/hum.2010.114","article-title":"Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy","volume":"22","author":"Shababi","year":"2011","journal-title":"Hum Gene Ther"},{"key":"10.1111\/ahg.12031-BIB0164|ahg12031-cit-0164","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1038\/ejhg.2010.54","article-title":"Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population","volume":"18","author":"Sheng-Yuan","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0165|ahg12031-cit-0165","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1021\/cb800120t","article-title":"DcpS as a therapeutic target for spinal muscular atrophy","volume":"3","author":"Singh","year":"2008","journal-title":"ACS Chem Biol"},{"key":"10.1111\/ahg.12031-BIB0166|ahg12031-cit-0166","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1128\/MCB.26.4.1333-1346.2006","article-title":"Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron","volume":"26","author":"Singh","year":"2006","journal-title":"Mol Cell Biol"},{"key":"10.1111\/ahg.12031-BIB0167|ahg12031-cit-0167","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.bbrc.2004.01.067","article-title":"An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy","volume":"315","author":"Singh","year":"2004a","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1111\/ahg.12031-BIB0168|ahg12031-cit-0168","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1261\/rna.7580704","article-title":"In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes","volume":"10","author":"Singh","year":"2004b","journal-title":"RNA"},{"key":"10.1111\/ahg.12031-BIB0169|ahg12031-cit-0169","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/nar\/gkl1050","article-title":"Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes","volume":"35","author":"Singh","year":"2007","journal-title":"Nuc. Acids Res"},{"key":"10.1111\/ahg.12031-BIB0170|ahg12031-cit-0170","doi-asserted-by":"crossref","first-page":"e49595","DOI":"10.1371\/journal.pone.0049595","article-title":"A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes","volume":"7","author":"Singh","year":"2012","journal-title":"PloS One"},{"key":"10.1111\/ahg.12031-BIB0171|ahg12031-cit-0171","doi-asserted-by":"crossref","first-page":"4114","DOI":"10.1073\/pnas.0633863100","article-title":"Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts","volume":"100","author":"Skordis","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/ahg.12031-BIB0172|ahg12031-cit-0172","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/sj.ejhg.5201821","article-title":"Population screening and cascade testing for carriers of SMA","volume":"15","author":"Smith","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0173|ahg12031-cit-0173","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1093\/hmg\/8.7.1219","article-title":"Identification of survival motor neuron as a transcriptional activator-binding protein","volume":"8","author":"Strasswimmer","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0174|ahg12031-cit-0174","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/humu.20160","article-title":"Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test","volume":"25","author":"Su","year":"2005","journal-title":"Hum Mut"},{"key":"10.1111\/ahg.12031-BIB0175|ahg12031-cit-0175","doi-asserted-by":"crossref","first-page":"e17067","DOI":"10.1371\/journal.pone.0017067","article-title":"Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study","volume":"6","author":"Su","year":"2011","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0176|ahg12031-cit-0176","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0177|ahg12031-cit-0177","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1089\/gtmb.2009.0089","article-title":"Large-scale population carrier screening for spinal muscular atrophy in Israel-effect of ethnicity on the false-negative rate","volume":"14","author":"Sukenik-Halevy","year":"2010","journal-title":"Genet Testing Mol Biomarkers"},{"key":"10.1111\/ahg.12031-BIB0178|ahg12031-cit-0178","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/ana.10743","article-title":"Valproic acid increases SMN levels in spinal muscular atrophy patient cells","volume":"54","author":"Sumner","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1111\/ahg.12031-BIB0179|ahg12031-cit-0179","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1093\/hmg\/ddp253","article-title":"Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice","volume":"18","author":"Sumner","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0180|ahg12031-cit-0180","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.10744","article-title":"Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy","volume":"113","author":"Sutomo","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1111\/ahg.12031-BIB0181|ahg12031-cit-0181","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1177\/0883073807305665","article-title":"Perspectives on clinical trials in spinal muscular atrophy","volume":"22","author":"Swoboda","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1111\/ahg.12031-BIB0182|ahg12031-cit-0182","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: relation to age, SMN2 copy number, and function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1111\/ahg.12031-BIB0183|ahg12031-cit-0183","doi-asserted-by":"crossref","first-page":"e12140","DOI":"10.1371\/journal.pone.0012140","article-title":"SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy","volume":"5","author":"Swoboda","year":"2010","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0184|ahg12031-cit-0184","doi-asserted-by":"crossref","first-page":"e5268","DOI":"10.1371\/journal.pone.0005268","article-title":"Phase II open label study of valproic acid in spinal muscular atrophy","volume":"4","author":"Swoboda","year":"2009","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0185|ahg12031-cit-0185","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1177\/088307389400900313","article-title":"Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy","volume":"9","author":"Takeuchi","year":"1994","journal-title":"J Child Neurol"},{"key":"10.1111\/ahg.12031-BIB0186|ahg12031-cit-0186","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/sj.ejhg.5200210","article-title":"Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy","volume":"6","author":"Taylor","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0187|ahg12031-cit-0187","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1021\/jm061475p","article-title":"Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy","volume":"51","author":"Thurmond","year":"2008","journal-title":"J Med Chem"},{"key":"10.1111\/ahg.12031-BIB0188|ahg12031-cit-0188","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1136\/jmg.2010.080366","article-title":"Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design","volume":"47","author":"Tiziano","year":"2010","journal-title":"J Med Genet"},{"key":"10.1111\/ahg.12031-BIB0189|ahg12031-cit-0189","doi-asserted-by":"crossref","first-page":"e26164","DOI":"10.1371\/journal.pone.0026164","article-title":"SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals","volume":"6","author":"Torres-Benito","year":"2011","journal-title":"PloS one"},{"key":"10.1111\/ahg.12031-BIB0190|ahg12031-cit-0190","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1111\/j.1442-200X.2008.02590.x","article-title":"SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy","volume":"50","author":"Tran","year":"2008","journal-title":"Ped Int"},{"key":"10.1111\/ahg.12031-BIB0191|ahg12031-cit-0191","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2012\/456478","article-title":"Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets","volume":"2012","author":"Tsai","year":"2012","journal-title":"Neural Plasticity"},{"key":"10.1111\/ahg.12031-BIB0192|ahg12031-cit-0192","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.nbd.2011.06.021","article-title":"IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice","volume":"45","author":"Tsai","year":"2012","journal-title":"Neurobiol Dis"},{"key":"10.1111\/ahg.12031-BIB0193|ahg12031-cit-0193","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1097\/00002060-200009000-00005","article-title":"A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report","volume":"79","author":"Tzeng","year":"2000","journal-title":"Am J Phy Med Rehab\/Ass Acad Physiatrists"},{"key":"10.1111\/ahg.12031-BIB0194|ahg12031-cit-0194","first-page":"249","article-title":"The causes and mechanism of selective motor neuron death in amyotrophic lateral sclerosis","volume":"68","author":"Van Den Bosch","year":"2006","journal-title":"Verh K Acad Geneeskd Belg"},{"key":"10.1111\/ahg.12031-BIB0195|ahg12031-cit-0195","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy","volume":"345","author":"Van Der Steege","year":"1995","journal-title":"Lancet"},{"key":"10.1111\/ahg.12031-BIB0196|ahg12031-cit-0196","first-page":"291","article-title":"Progress and promise: the current status of spinal muscular atrophy therapeutics","volume":"12","author":"Van Meerbeke","year":"2011","journal-title":"Discovery Med"},{"key":"10.1111\/ahg.12031-BIB0197|ahg12031-cit-0197","volume-title":"41st Annual Society of Neuroscience Meeting) Program 558.04\/Poster H9, Annual Society of Neuroscience Meeting,","author":"Van Meerbeke","year":"2011"},{"key":"10.1111\/ahg.12031-BIB0198|ahg12031-cit-0198","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1089\/ars.2008.2161","article-title":"The insulin-like growth factor family: molecular mechanisms, redox regulation, and clinical implications","volume":"11","author":"Vardatsikos","year":"2009","journal-title":"Antioxid Redox Signal"},{"key":"10.1111\/ahg.12031-BIB0199|ahg12031-cit-0199","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/hmg\/5.2.257","article-title":"Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype","volume":"5","author":"Velasco","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0200|ahg12031-cit-0200","doi-asserted-by":"crossref","first-page":"E1110","DOI":"10.1002\/humu.21173","article-title":"A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy","volume":"31","author":"Vezain","year":"2010","journal-title":"Hum Mut"},{"key":"10.1111\/ahg.12031-BIB0201|ahg12031-cit-0201","first-page":"CD006281","article-title":"Drug treatment for spinal muscular atrophy type I","volume":"4","author":"Wadman","year":"2012a","journal-title":"Cochrane Database Syst Rev"},{"key":"10.1111\/ahg.12031-BIB0202|ahg12031-cit-0202","first-page":"CD006282","article-title":"Drug treatment for spinal muscular atrophy types II and III","volume":"4","author":"Wadman","year":"2012b","journal-title":"Cochrane Database Syst Rev"},{"key":"10.1111\/ahg.12031-BIB0203|ahg12031-cit-0203","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1212\/01.wnl.0000231139.26253.d0","article-title":"Valproate may improve strength and function in patients with type III\/IV spinal muscle atrophy","volume":"67","author":"Weihl","year":"2006","journal-title":"Neurology"},{"key":"10.1111\/ahg.12031-BIB0204|ahg12031-cit-0204","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1093\/hmg\/ddq058","article-title":"Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy","volume":"19","author":"Wen","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0205|ahg12031-cit-0205","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006a","journal-title":"Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0206|ahg12031-cit-0206","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.spen.2006.06.008","article-title":"Spinal muscular atrophy: from gene to therapy","volume":"13","author":"Wirth","year":"2006b","journal-title":"Semin Pediatr Neurol"},{"key":"10.1111\/ahg.12031-BIB0207|ahg12031-cit-0207","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12031-BIB0208|ahg12031-cit-0208","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1093\/hmg\/ddi131","article-title":"A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels","volume":"14","author":"Wolstencroft","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ahg.12031-BIB0209|ahg12031-cit-0209","doi-asserted-by":"crossref","first-page":"93","DOI":"10.3343\/kjlm.2010.30.1.93","article-title":"Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification","volume":"30","author":"Yoon","year":"2010","journal-title":"Korean J Lab Med"},{"key":"10.1111\/ahg.12031-BIB0210|ahg12031-cit-0210","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/S0960-8966(99)00016-4","article-title":"59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands","volume":"9","author":"Zerres","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ahg.12031-BIB0211|ahg12031-cit-0211","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1523\/JNEUROSCI.23-16-06627.2003","article-title":"Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization","volume":"23","author":"Zhang","year":"2003","journal-title":"J Neurosci"},{"key":"10.1111\/ahg.12031-BIB0212|ahg12031-cit-0212","first-page":"8622","article-title":"Multiprotein complexes of the survival motor neuron protein SMN with gemins traffic to neuronal processes and growth cones of motor neurons","volume":"26","author":"Zhang","year":"2006","journal-title":"Neurobiol Dis"},{"key":"10.1111\/ahg.12031-BIB0213|ahg12031-cit-0213","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","article-title":"SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing","volume":"133","author":"Zhang","year":"2008","journal-title":"Cell"},{"key":"10.1111\/ahg.12031-BIB0214|ahg12031-cit-0214","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s10571-011-9647-8","article-title":"SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress","volume":"31","author":"Zou","year":"2011","journal-title":"Cell Mol Neurobiol"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12031","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12031","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/ahg.12031\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T08:05:45Z","timestamp":1625299545000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12031"}},"subtitle":["SMA Gene Discovery to Clinical Trials"],"short-title":[],"issued":{"date-parts":[[2013,7,23]]},"references-count":214,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,9]]}},"URL":"https:\/\/doi.org\/10.1111\/ahg.12031","archive":["Portico"],"relation":{},"ISSN":["0003-4800"],"issn-type":[{"value":"0003-4800","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7,23]]}}}