{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:53:22Z","timestamp":1790394802661,"version":"4.1.0"},"update-to":[{"DOI":"10.1002\/14651858.cd006281.pub3","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2012,4,18]],"date-time":"2012-04-18T00:00:00Z","timestamp":1334707200000}}],"reference-count":97,"publisher":"Wiley","content-domain":{"domain":["wiley.com","cochranelibrary.com"],"crossmark-restriction":true},"short-container-title":[],"DOI":"10.1002\/14651858.cd006281.pub4","type":"journal-article","created":{"date-parts":[[2012,4,12]],"date-time":"2012-04-12T19:38:09Z","timestamp":1334259489000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Drug treatment for spinal muscular atrophy type I"],"prefix":"10.1002","author":[{"given":"Renske I","family":"Wadman","sequence":"first","affiliation":[{"name":"University Medical Center Utrecht; Department of Neurology; Rudolf Magnus Institute for Neuroscience Universiteitsweg 100 Utrecht Netherlands 3584 CG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy MJ","family":"Bosboom","sequence":"additional","affiliation":[{"name":"Sint Lucas Andreas Hospital; Department of Neurology; Jan Tooropstraat 164 Amsterdam Netherlands 1061 AE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W Ludo","family":"van der Pol","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht; Department of Neurology; Rudolf Magnus Institute for Neuroscience Universiteitsweg 100 Utrecht Netherlands 3584 CG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard H","family":"van den Berg","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht; Department of Neurology; Rudolf Magnus Institute for Neuroscience Universiteitsweg 100 Utrecht Netherlands 3584 CG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John HJ","family":"Wokke","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht; Department of Neurology; Rudolf Magnus Institute for Neuroscience Universiteitsweg 100 Utrecht Netherlands 3584 CG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan T","family":"Iannaccone","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center; Department of Pediatrics; 5323 Harry Hines Boulevard Dallas Texas USA 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander FJE","family":"Vrancken","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht; Department of Neurology; Rudolf Magnus Institute for Neuroscience Universiteitsweg 100 Utrecht Netherlands 3584 CG"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,18]]},"reference":[{"issue":"11","key":"10.1002\/14651858.CD006281.pub4-BIB0001|cit1","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":"Archives of Neurology"},{"issue":"6","key":"10.1002\/14651858.CD006281.pub4-BIB0002|cit2","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ana.20836","article-title":"In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate","volume":"59","author":"Brichta","year":"2006","journal-title":"Annals of Neurology"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0003|cit3","unstructured":"Chang JG Tsai FJ Wang WY Jong YJ Treatment of spinal muscular atrophy by hydroxyurea American Journal of Human Genetics 2002 2402"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0004|cit4","unstructured":"Franz DN Tudor CA Samaha FJ A phase I trial of recombinant human ciliary neurotrophic factor in spinal muscular atrophy Annals of Neurology 1995 546"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0005|cit5","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":"10.1002\/14651858.CD006281.pub4-BIB0006|cit6","unstructured":"NCT00568698 A pilot therapeutic trial using hydroxyurea in type I spinal muscular atrophy patients www.clinicaltrials.gov\/ct2\/show\/NCT00568698"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0007|cit7","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1212\/WNL.46.5.1244","article-title":"A double-blind placebo-controlled clinical trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis. ALS CNTF Treatment Study Group","volume":"46","year":"1996","journal-title":"Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0008|cit8","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.prrv.2007.11.003","article-title":"The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for","volume":"9","author":"Bach","year":"2008","journal-title":"Paediatric Respiratory Reviews"},{"issue":"9","key":"10.1002\/14651858.CD006281.pub4-BIB0009|cit9","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1056\/NEJM199403033300901","article-title":"A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS\/Riluzole Study Group","volume":"330","author":"Bensimon","year":"1994","journal-title":"New England Journal of Medicine"},{"issue":"11","key":"10.1002\/14651858.CD006281.pub4-BIB0010|cit10","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.nmd.2005.07.005","article-title":"134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands","volume":"15","author":"Bertini","year":"2005","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0011|cit11","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD004302.pub2","article-title":"Ciliary neurotrophic factor (CNTF) for amyotrophic lateral sclerosis\/motor neuron disease","author":"Bongioanni","year":"2004","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"8951","key":"10.1002\/14651858.CD006281.pub4-BIB0012|cit12","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/S0140-6736(95)90869-2","article-title":"Constitutive muscular abnormalities in culture in spinal muscular atrophy","volume":"345","author":"Braun","year":"1995","journal-title":"Lancet"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0013|cit13","doi-asserted-by":"crossref","first-page":"549","DOI":"10.2165\/00003495-199652040-00010","article-title":"Riluzole. A review of its pharmacodynamic and pharmacokinetic properties and therapeutic potential in amyotrophic lateral sclerosis","volume":"52","author":"Bryson","year":"1996","journal-title":"Drugs"},{"issue":"6266","key":"10.1002\/14651858.CD006281.pub4-BIB0014|cit14","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"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0015|cit15","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1086\/498853","article-title":"Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2","volume":"78","author":"Cartegni","year":"2006","journal-title":"American Journal of Human Genetics"},{"issue":"24","key":"10.1002\/14651858.CD006281.pub4-BIB0016|cit16","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"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0017|cit17","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1053\/spen.2002.33801","article-title":"Spinal muscular atrophy","volume":"9","author":"Cifuentes-Diaz","year":"2002","journal-title":"Seminars in Pediatric Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0018|cit18","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben","year":"1995","journal-title":"American Journal of Human Genetics"},{"issue":"52","key":"10.1002\/14651858.CD006281.pub4-BIB0019|cit19","first-page":"2525","article-title":"[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy]","volume":"145","author":"Cobben","year":"2001","journal-title":"Nederlands Tijdschrift voor Geneeskunde"},{"issue":"7","key":"10.1002\/14651858.CD006281.pub4-BIB0020|cit20","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.nmd.2008.05.008","article-title":"Survival in SMA type I: a prospective analysis of 34 consecutive cases","volume":"18","author":"Cobben","year":"2008","journal-title":"Neuromuscular Disorders"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0021|cit21","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","article-title":"The neurobiology of childhood spinal muscular atrophy","volume":"3","author":"Crawford","year":"1996","journal-title":"Neurobiology of Disease"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0022|cit22","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.yexcr.2007.10.012","article-title":"Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy","volume":"314","author":"DiMatteo","year":"2008","journal-title":"Experimental Cell Research"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0023|cit23","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0960-8966(94)00075-K","article-title":"Chaos in the classification of SMA: a possible resolution","volume":"5","author":"Dubowitz","year":"1995","journal-title":"Neuromuscular Disorders"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0024|cit24","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S1090-3798(99)80012-9","article-title":"Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype","volume":"3","author":"Dubowitz","year":"1999","journal-title":"European Journal of Paediatric Neurology"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0025|cit25","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":"Feldkotter","year":"2002","journal-title":"American Journal of Human Genetics"},{"issue":"8","key":"10.1002\/14651858.CD006281.pub4-BIB0026|cit26","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/ddm379","article-title":"Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect","volume":"17","author":"Gavrilina","year":"2008","journal-title":"Human Molecular Genetics"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0027|cit27","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1097\/00019052-199904000-00002","article-title":"Spinal muscular atrophy: molecular pathophysiology","volume":"12","author":"Gendron","year":"1999","journal-title":"Current Opinion in Neurology"},{"issue":"6278","key":"10.1002\/14651858.CD006281.pub4-BIB0028|cit28","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"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0029|cit29","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/0960-8966(94)00090-V","article-title":"Possible strategies for treatment of SMA patients: a neurobiologist's view","volume":"5","author":"Greensmith","year":"1995","journal-title":"Neuromuscular Disorders"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0030|cit30","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/mus.10455","article-title":"Riluzole attenuates spinal muscular atrophy disease progression in a mouse model","volume":"28","author":"Haddad","year":"2003","journal-title":"Muscle & Nerve"},{"issue":"9","key":"10.1002\/14651858.CD006281.pub4-BIB0031|cit31","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":"Journal of Neurology"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0032|cit32","volume-title":"Cochrane Handbook for Systematic Reviews of Interventions 5.0.2","author":"Higgins","year":"Updated September 2009"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0033|cit33","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/0887-8994(93)90082-N","article-title":"Prospective study of spinal muscular atrophy before age 6 years. DCN\/SMA Group","volume":"9","author":"Iannaccone","year":"1993","journal-title":"Pediatric Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0034|cit34","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1055\/s-2008-1040858","article-title":"Spinal muscular atrophy","volume":"18","author":"Iannaccone","year":"1998","journal-title":"Seminars in Neurology"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0035|cit35","first-page":"83","article-title":"Spinal Muscular Atrophies","volume-title":"Neuromuscular Disorders","author":"Iannaccone","year":"2001"},{"issue":"8","key":"10.1002\/14651858.CD006281.pub4-BIB0036|cit36","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1001\/archneur.60.8.1130","article-title":"Reliability of 4 outcome measures in pediatric spinal muscular atrophy","volume":"60","author":"Iannaccone","year":"2003","journal-title":"Archives of Neurology"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0037|cit37","doi-asserted-by":"crossref","first-page":"I37","DOI":"10.1007\/s004150050555","article-title":"The role of SMN in spinal muscular atrophy","volume":"247 Suppl 1","author":"Jablonka","year":"2000","journal-title":"Journal of Neurology"},{"issue":"16","key":"10.1002\/14651858.CD006281.pub4-BIB0038|cit38","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1093\/hmg\/ddn156","article-title":"Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy","volume":"17","author":"Kariya","year":"2008","journal-title":"Human Molecular Genetics"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0039|cit39","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1053\/ejpn.2001.0510","article-title":"Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III","volume":"5","author":"Kroksmark","year":"2001","journal-title":"European Journal of Paediatric Neurology"},{"issue":"9013","key":"10.1002\/14651858.CD006281.pub4-BIB0040|cit40","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/S0140-6736(96)91680-3","article-title":"Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis\/Riluzole Study Group II","volume":"347","author":"Lacomblez","year":"1996","journal-title":"Lancet"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0041|cit41","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"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0042|cit42","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":"Nature Genetics"},{"issue":"10","key":"10.1002\/14651858.CD006281.pub4-BIB0043|cit43","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/hmg\/7.10.1531","article-title":"The role of the SMN gene in proximal spinal muscular atrophy","volume":"7","author":"Lefebvre","year":"1998","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0044|cit44","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":"Nature Genetics"},{"issue":"11","key":"10.1002\/14651858.CD006281.pub4-BIB0045|cit45","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":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"9630","key":"10.1002\/14651858.CD006281.pub4-BIB0046|cit46","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0047|cit47","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1083\/jcb.200303168","article-title":"Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding","volume":"162","author":"McWhorter","year":"2003","journal-title":"The Journal of Cell Biology"},{"issue":"6268","key":"10.1002\/14651858.CD006281.pub4-BIB0048|cit48","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":"1990","journal-title":"Nature"},{"issue":"8710","key":"10.1002\/14651858.CD006281.pub4-BIB0049|cit49","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":"1990","journal-title":"Lancet"},{"issue":"5164","key":"10.1002\/14651858.CD006281.pub4-BIB0050|cit50","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1126\/science.7910982","article-title":"De novo and inherited deletions of the 5q13 region in spinal muscular atrophies","volume":"264","author":"Melki","year":"1994","journal-title":"Science"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0051|cit51","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/S0960-8966(01)00272-3","article-title":"90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands","volume":"12","author":"Merlini","year":"2002","journal-title":"Neuromuscular Disorders"},{"issue":"8","key":"10.1002\/14651858.CD006281.pub4-BIB0052|cit52","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":"Journal of Child Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0053|cit53","doi-asserted-by":"crossref","first-page":"S86","DOI":"10.1212\/WNL.47.4_Suppl_2.86S","article-title":"Clinical trials of riluzole in patients with ALS. ALS\/Riluzole Study Group-II","volume":"47 Suppl 2","author":"Miller","year":"1996","journal-title":"Neurology"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0054|cit54","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.410390215","article-title":"A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. rhCNTF ALS Study Group","volume":"39","author":"Miller","year":"1996","journal-title":"Annals of Neurology"},{"issue":"1-2","key":"10.1002\/14651858.CD006281.pub4-BIB0055|cit55","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":"Journal of the Neurological Sciences"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0056|cit56","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD001447.pub2","article-title":"Riluzole for amyotrophic lateral sclerosis (ALS)\/motor neuron disease (MND)","author":"Miller","year":"2007","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0057|cit57","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/0960-8966(91)90052-T","article-title":"Workshop report: International SMA Collaboration","volume":"1","author":"Munsat","year":"1991","journal-title":"Neuromuscular Disorders"},{"issue":"5-6","key":"10.1002\/14651858.CD006281.pub4-BIB0058|cit58","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscular Disorders"},{"issue":"7","key":"10.1002\/14651858.CD006281.pub4-BIB0059|cit59","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1093\/hmg\/ddm367","article-title":"Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy","volume":"17","author":"Murray","year":"2008","journal-title":"Human Molecular Genetics"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0060|cit60","unstructured":"NCT00439218 Clinical trial of sodium phenylbutyrate in children with spinal muscular atrophy type I (NPTUNE 02) clinicaltrials.gov\/show\/NCT00439218"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0061|cit61","unstructured":"NCT00439569 Clinical trial of sodium phenylbutyrate in children with spinal muscular atrophy types II or III (NPTUNE01) clinicaltrials.gov\/show\/NCT00439569"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0062|cit62","unstructured":"NCT00528268 Study to evaluate sodium phenylbutyrate in pre-symptomatic infants with spinal muscular atrophy (STOPSMA) clinicaltrials.gov\/show\/NCT00528268"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0063|cit63","unstructured":"NCT00661453 Valproic acid and carnitine in infants with spinal muscular atrophy (SMA) type I clinicaltrials.gov\/show\/NCT00661453"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0064|cit64","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/mus.10110","article-title":"Spinal muscular atrophy: recent advances and future prospects","volume":"26","author":"Nicole","year":"2002","journal-title":"Muscle & Nerve"},{"issue":"5875","key":"10.1002\/14651858.CD006281.pub4-BIB0065|cit65","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":"10.1002\/14651858.CD006281.pub4-BIB0066|cit66","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 I","volume":"69","author":"Oskoui","year":"2007","journal-title":"Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0067|cit67","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF03033366","article-title":"Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy","volume":"13","author":"Parker","year":"2008","journal-title":"Neurotoxicity Research"},{"issue":"6","key":"10.1002\/14651858.CD006281.pub4-BIB0068|cit68","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1086\/302160","article-title":"Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number","volume":"63","author":"Parsons","year":"1998","journal-title":"American Journal of Human Genetics"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0069|cit69","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":"10.1002\/14651858.CD006281.pub4-BIB0070|cit70","unstructured":"Piepers S De Jong S Veldink JH Van der Tweel I van der Pol WL Groeneveld GJ A randomised sequential trial of valproic acid in ALS Abstracts of the American Academy of Neurology 60th Annual Meeting, April 12-19, 2008 Chicago USA Marathon Multimedia 2008"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0071|cit71","doi-asserted-by":"crossref","unstructured":"Piepers S van den Berg LH Brugman F Scheffer H Ruiterkamp-Versteeg M van Engelen BG A natural history study of late onset spinal muscular atrophy types 3b and 4 Journal of Neurology. Epub ahead of publication 2008 10.1007\/s00415-008-0929-0","DOI":"10.1007\/s00415-008-0929-0"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0072|cit72","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1001\/archneur.55.4.526","article-title":"An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole","volume":"55","author":"Riviere","year":"1998","journal-title":"Archives of Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0073|cit73","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1177\/088307389200700403","article-title":"Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema","volume":"7","author":"Russman","year":"1992","journal-title":"Journal of Child Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0074|cit74","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1212\/WNL.47.4.973","article-title":"Function changes in spinal muscular atrophy II and III. The DCN\/SMA Group","volume":"47","author":"Russman","year":"1996","journal-title":"Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0075|cit75","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.prrv.2007.10.002","article-title":"The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against","volume":"9","author":"Ryan","year":"2008","journal-title":"Paediatric Respiratory Reviews"},{"issue":"8","key":"10.1002\/14651858.CD006281.pub4-BIB0076|cit76","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1177\/0883073807305787","article-title":"Molecular mechanisms of spinal muscular atrophy","volume":"22","author":"Sumner","year":"2007","journal-title":"Journal of Child Neurology"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0077|cit77","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":"Annals of Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0078|cit78","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":"Journal of Child Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0079|cit79","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1023\/A:1005516625866","article-title":"Spinal muscular atrophy","volume":"22","author":"Talbot","year":"1999","journal-title":"Journal of Inherited Metabolic Diseases"},{"issue":"5-6","key":"10.1002\/14651858.CD006281.pub4-BIB0080|cit80","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/0960-8966(94)90090-6","article-title":"The natural history of type I (severe) spinal muscular atrophy","volume":"4","author":"Thomas","year":"1994","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0081|cit81","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":"Journal of Medicinal Chemistry"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0082|cit82","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s00415-003-1026-z","article-title":"An outcome study of riluzole in amyotrophic lateral sclerosis - a population-based study in Ireland, 1996-2000","volume":"250","author":"Traynor","year":"2003","journal-title":"Journal of Neurology"},{"issue":"6","key":"10.1002\/14651858.CD006281.pub4-BIB0083|cit83","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1212\/WNL.56.6.749","article-title":"Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS","volume":"56","author":"Veldink","year":"2001","journal-title":"Neurology"},{"issue":"12","key":"10.1002\/14651858.CD006281.pub4-BIB0084|cit84","article-title":"Drug treatment for spinal muscular atrophy type II and III","author":"Wadman","year":"2011","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"8","key":"10.1002\/14651858.CD006281.pub4-BIB0085|cit85","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","article-title":"Consensus statement for standard of care in spinal muscular atrophy","volume":"22","author":"Wang","year":"2007","journal-title":"Journal of Child Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0086|cit86","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Human Mutation"},{"key":"10.1002\/14651858.CD006281.pub4-BIB0087|cit87","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/978-3-540-34449-0_6","article-title":"Spinal muscular atrophy and therapeutic prospects","volume":"44","author":"Wirth","year":"2006","journal-title":"Progress in Molecular and Subcellular Biology"},{"issue":"2","key":"10.1002\/14651858.CD006281.pub4-BIB0088|cit88","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":"2006","journal-title":"Seminars in Pediatric Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0089|cit89","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":"2006","journal-title":"Human Genetics"},{"issue":"9030","key":"10.1002\/14651858.CD006281.pub4-BIB0090|cit90","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/S0140-6736(96)03181-9","article-title":"Riluzole","volume":"348","author":"Wokke","year":"1996","journal-title":"Lancet"},{"issue":"3","key":"10.1002\/14651858.CD006281.pub4-BIB0091|cit91","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1097\/CND.0b013e3180315c99","article-title":"A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy","volume":"8","author":"Wong","year":"2007","journal-title":"Journal of Clinical Neuromuscular Disease"},{"issue":"5","key":"10.1002\/14651858.CD006281.pub4-BIB0092|cit92","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","article-title":"Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications","volume":"52","author":"Zerres","year":"1995","journal-title":"Archives of Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0093|cit93","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","article-title":"A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients","volume":"146","author":"Zerres","year":"1997","journal-title":"Journal of the Neurological Sciences"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0094|cit94","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":"Neuromuscular Disorders"},{"issue":"4","key":"10.1002\/14651858.CD006281.pub4-BIB0095|cit95","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/j.bbrc.2007.10.096","article-title":"SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity","volume":"364","author":"Zou","year":"2007","journal-title":"Biochemical and Biophysical Research Communication"},{"issue":"1","key":"10.1002\/14651858.CD006281.pub4-BIB0096|cit96","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD006281.pub2","article-title":"Drug treatment for spinal muscular atrophy type I","author":"Bosboom","year":"2009","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"12","key":"10.1002\/14651858.CD006281.pub4-BIB0097|cit97","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD006281.pub3","article-title":"Drug treatment for spinal muscular atrophy type I","author":"Wadman","year":"2011","journal-title":"Cochrane Database of Systematic Reviews"}],"updated-by":[{"DOI":"10.1002\/14651858.cd006281.pub5","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T00:00:00Z","timestamp":1576022400000}}],"container-title":["Cochrane Database of Systematic Reviews"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/14651858.CD006281.pub4\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T21:57:22Z","timestamp":1628546242000},"score":1,"resource":{"primary":{"URL":"https:\/\/doi.wiley.com\/10.1002\/14651858.CD006281.pub4"}},"subtitle":[],"editor":[{"name":"Cochrane Neuromuscular Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2012,4,18]]},"references-count":97,"URL":"https:\/\/doi.org\/10.1002\/14651858.cd006281.pub4","relation":{"new_version":[{"id-type":"doi","id":"10.1002\/14651858.CD006281.pub5","asserted-by":"object"}]},"ISSN":["1465-1858"],"issn-type":[{"value":"1465-1858","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,18]]}}}