{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T18:28:50Z","timestamp":1793298530041,"version":"4.5.0"},"reference-count":82,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100008069","name":"UCSF","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Clinics of North America"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.pcl.2023.06.002","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T09:57:21Z","timestamp":1690365441000},"page":"963-977","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Spinal Muscular Atrophy"],"prefix":"10.1016","volume":"70","author":[{"given":"Alex","family":"Fay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pcl.2023.06.002_bib1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/BF01776636","article-title":"Zwei fr\u00fchinfantile heredit\u00e4re F\u00e4lle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage","volume":"22","author":"Werdnig","year":"1891","journal-title":"Archiv fur Psychiatrie und Nervenkrankheiten, Berlin"},{"key":"10.1016\/j.pcl.2023.06.002_bib2","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF01668496","article-title":"\u00dcber chronische spinale Muskelatrophie im Kindesalter auf famili\u00e4rer Basis","volume":"3","author":"Hoffmann","year":"1893","journal-title":"Deut Zeitsch Nervenheilkd"},{"key":"10.1016\/j.pcl.2023.06.002_bib3","first-page":"372","article-title":"Progressive muscular atrophy in a child with a spinal lesion","volume":"1","author":"Thomson","year":"1893","journal-title":"Edinb Hosp Rep"},{"key":"10.1016\/j.pcl.2023.06.002_bib4","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1093\/brain\/25.1.85","article-title":"A\u00a0case of congenital spinal muscular atrophy (family type) and a case of hemorrhage into the spinal cord at birth, giving similar symptoms","volume":"25","author":"Beevor","year":"1902","journal-title":"Brain"},{"key":"10.1016\/j.pcl.2023.06.002_bib5","series-title":"Lectures on diseases of children","first-page":"276","author":"Hutchinson","year":"1910"},{"issue":"5","key":"10.1016\/j.pcl.2023.06.002_bib6","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1001\/archneurpsyc.1956.02330230050005","article-title":"Heredofamilial juvenile muscular atrophy simulating muscular dystrophy","volume":"75","author":"Kugelberg","year":"1956","journal-title":"AMA Arch Neurol Psychiatry"},{"key":"10.1016\/j.pcl.2023.06.002_bib7","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1093\/brain\/87.4.707","article-title":"Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety","volume":"87","author":"Dubowitz","year":"1964","journal-title":"Brain"},{"key":"10.1016\/j.pcl.2023.06.002_bib8","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":"10.1016\/j.pcl.2023.06.002_bib9","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":"2","key":"10.1016\/j.pcl.2023.06.002_bib10","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S1090-3798(99)80015-4","article-title":"Prenatal onset spinal muscular atrophy","volume":"3","author":"MacLeod","year":"1999","journal-title":"Eur J Paediatr Neurol"},{"issue":"12","key":"10.1016\/j.pcl.2023.06.002_bib11","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1002\/acn3.51126","article-title":"Nusinersen in type 0 spinal muscular atrophy: should we treat?","volume":"7","author":"Tiberi","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"issue":"11","key":"10.1016\/j.pcl.2023.06.002_bib12","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1002\/pd.6228","article-title":"Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy","volume":"42","author":"Schwab","year":"2022","journal-title":"Prenat Diagn"},{"issue":"8","key":"10.1016\/j.pcl.2023.06.002_bib13","doi-asserted-by":"crossref","first-page":"e696","DOI":"10.1212\/WNL.0000000000006050","article-title":"An observational study of functional abilities in infants, children, and adults with type 1 SMA","volume":"91","author":"Pane","year":"2018","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.pcl.2023.06.002_bib14","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","article-title":"Natural history of infantile-onset spinal muscular atrophy","volume":"82","author":"Kolb","year":"2017","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib15","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13023-020-01356-1","article-title":"Longitudinal natural history of type I spinal muscular atrophy: a critical review","volume":"15","author":"Mercuri","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.pcl.2023.06.002_bib16","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1002\/ana.410090515","article-title":"Preservation of the phrenic motoneurons in Werdnig-Hoffmann disease","volume":"9","author":"Kuzuhara","year":"1981","journal-title":"Ann Neurol"},{"key":"10.1016\/j.pcl.2023.06.002_bib17","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1136\/adc.53.12.921","article-title":"Werdnig-Hoffmann disease. The effects of intrauterine onset on lung growth","volume":"53","author":"Cunningham","year":"1978","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.pcl.2023.06.002_bib18","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","article-title":"Observational study of spinal muscular atrophy type I and implications for clinical trials","volume":"83","author":"Finkel","year":"2014","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.pcl.2023.06.002_bib19","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/dmcn.14798","article-title":"Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review","volume":"63","author":"Masson","year":"2021","journal-title":"Dev Med Child Neurol"},{"issue":"1\u20132","key":"10.1016\/j.pcl.2023.06.002_bib20","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/BF00685353","article-title":"A\u00a0neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots","volume":"60","author":"Shishikura","year":"1983","journal-title":"Acta Neuropathol"},{"issue":"5","key":"10.1016\/j.pcl.2023.06.002_bib21","doi-asserted-by":"crossref","first-page":"e548","DOI":"10.1542\/peds.2004-0668","article-title":"Spinal muscular atrophy: survival pattern and functional status","volume":"114","author":"Chung","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.pcl.2023.06.002_bib22","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","article-title":"A\u00a0collaborative 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":"J\u00a0Neurol Sci"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib23","doi-asserted-by":"crossref","first-page":"e0201004","DOI":"10.1371\/journal.pone.0201004","article-title":"Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study","volume":"13","author":"Chabanon","year":"2018","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.pcl.2023.06.002_bib24","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/S0960-8966(96)00379-3","article-title":"Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy","volume":"6","author":"Souchon","year":"1996","journal-title":"Neuromuscul Disord"},{"issue":"18","key":"10.1016\/j.pcl.2023.06.002_bib25","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","article-title":"Prospective cohort study of spinal muscular atrophy types 2 and 3","volume":"79","author":"Kaufmann","year":"2012","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.pcl.2023.06.002_bib26","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.braindev.2017.04.018","article-title":"Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients","volume":"39","author":"Kaneko","year":"2017","journal-title":"Brain Dev"},{"issue":"6","key":"10.1016\/j.pcl.2023.06.002_bib27","doi-asserted-by":"crossref","first-page":"e0199657","DOI":"10.1371\/journal.pone.0199657","article-title":"Ambulatory function in spinal muscular atrophy: age-related patterns of progression","volume":"13","author":"Montes","year":"2018","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib28","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1186\/s13023-021-01771-y","article-title":"Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy","volume":"16","author":"Lusakowska","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"10.1016\/j.pcl.2023.06.002_bib29","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1002\/mus.27404","article-title":"Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation","volume":"64","author":"Wolfe","year":"2021","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.pcl.2023.06.002_bib30","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1136\/jnnp-2016-314292","article-title":"Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4","volume":"88","author":"Wadman","year":"2017","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"issue":"15","key":"10.1016\/j.pcl.2023.06.002_bib31","doi-asserted-by":"crossref","first-page":"7896","DOI":"10.3390\/ijms22157896","article-title":"Genomic variability in the survival motor neuron genes (SMN1 and SMN2): implications for spinal muscular atrophy phenotype and therapeutics development","volume":"22","author":"Butchbach","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"3","key":"10.1016\/j.pcl.2023.06.002_bib32","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","article-title":"A\u00a0positive modifier of spinal muscular atrophy in the SMN2 gene","volume":"85","author":"Prior","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2023.06.002_bib33","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.33.4.281","article-title":"Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease","volume":"33","author":"Burlet","year":"1996","journal-title":"J\u00a0Med Genet"},{"issue":"5875","key":"10.1016\/j.pcl.2023.06.002_bib34","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"},{"issue":"3","key":"10.1016\/j.pcl.2023.06.002_bib35","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.pcl.2023.06.002_bib36","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","article-title":"Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis","volume":"100","author":"Riessland","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pcl.2023.06.002_bib37","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/ped.13052","article-title":"Transcript levels of plastin3 and neuritin1 modifer genes in spinal muscular atrophy siblings","volume":"59","author":"Yener","year":"2017","journal-title":"Pediatr Int"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib38","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1186\/s12881-019-0935-3","article-title":"Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report","volume":"20","author":"Jiang","year":"2019","journal-title":"BMC Med Genet"},{"issue":"6","key":"10.1016\/j.pcl.2023.06.002_bib39","doi-asserted-by":"crossref","first-page":"3203","DOI":"10.1007\/s12325-021-01757-z","article-title":"A\u00a0randomized phase 1 safety, pharmacokinetic and pharmacodynamic study of the novel myostatin inhibitor apitegromab (SRK-015): a potential treatment for spinal muscular atrophy","volume":"38","author":"Barrett","year":"2021","journal-title":"Adv Ther"},{"issue":"2","key":"10.1016\/j.pcl.2023.06.002_bib40","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1093\/hmg\/ddn357","article-title":"Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition","volume":"18","author":"Hauke","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"5","key":"10.1016\/j.pcl.2023.06.002_bib41","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"},{"issue":"11","key":"10.1016\/j.pcl.2023.06.002_bib42","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1007\/s00109-008-0388-1","article-title":"Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice","volume":"86","author":"Tsai","year":"2008","journal-title":"J\u00a0Mol Med (Berl)"},{"issue":"8","key":"10.1016\/j.pcl.2023.06.002_bib43","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"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib44","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"},{"issue":"10","key":"10.1016\/j.pcl.2023.06.002_bib45","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmg.2008.057950","article-title":"Congenital heart disease is a feature of severe infantile spinal muscular atrophy","volume":"45","author":"Rudnik-Sch\u00f6neborn","year":"2008","journal-title":"J\u00a0Med Genet"},{"issue":"2","key":"10.1016\/j.pcl.2023.06.002_bib46","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.jpeds.2009.01.071","article-title":"Vascular perfusion abnormalities in infants with spinal muscular atrophy","volume":"155","author":"Araujo","year":"2009","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.pcl.2023.06.002_bib47","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1212\/01.WNL.0000052788.39340.45","article-title":"Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy","volume":"60","author":"Rudnik-Schoneborn","year":"2003","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.pcl.2023.06.002_bib48","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.23582","article-title":"Glucose metabolism and pancreatic defects in spinal muscular atrophy","volume":"72","author":"Bowerman","year":"2012","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.pcl.2023.06.002_bib49","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U","article-title":"Abnormal fatty acid metabolism in childhood spinal muscular atrophy","volume":"45","author":"Crawford","year":"1999","journal-title":"Ann Neurol"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib50","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.nmd.2019.04.003","article-title":"Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II","volume":"29","author":"Frongia","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.pcl.2023.06.002_bib51","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.pediatrneurol.2017.04.013","article-title":"Effect of salbutamol on respiratory muscle strength in spinal muscular atrophy","volume":"73","author":"Khirani","year":"2017","journal-title":"Pediatr Neurol"},{"issue":"10","key":"10.1016\/j.pcl.2023.06.002_bib52","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/j.nmd.2018.07.013","article-title":"Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?","volume":"28","author":"Pera","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib53","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\u00a0Med Genet"},{"issue":"12","key":"10.1016\/j.pcl.2023.06.002_bib54","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.nmd.2020.10.008","article-title":"Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial","volume":"30","author":"Muntoni","year":"2020","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib55","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"},{"issue":"11","key":"10.1016\/j.pcl.2023.06.002_bib56","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1001\/archneur.60.11.1601","article-title":"A\u00a0phase 1 trial of riluzole in spinal muscular atrophy","volume":"60","author":"Russman","year":"2003","journal-title":"Arch Neurol"},{"issue":"24","key":"10.1016\/j.pcl.2023.06.002_bib57","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":"1","key":"10.1016\/j.pcl.2023.06.002_bib58","first-page":"CD006282","article-title":"Drug treatment for spinal muscular atrophy types II and III","volume":"1","author":"Wadman","year":"2020","journal-title":"Cochrane Database Syst Rev"},{"issue":"18","key":"10.1016\/j.pcl.2023.06.002_bib59","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N\u00a0Engl J Med"},{"issue":"10063","key":"10.1016\/j.pcl.2023.06.002_bib60","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"issue":"11","key":"10.1016\/j.pcl.2023.06.002_bib61","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"De Vivo","year":"2019","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib62","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus sham control in later-onset spinal muscular atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N\u00a0Engl J Med"},{"issue":"18","key":"10.1016\/j.pcl.2023.06.002_bib63","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N\u00a0Engl J Med"},{"issue":"4","key":"10.1016\/j.pcl.2023.06.002_bib64","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S1474-4422(21)00001-6","article-title":"Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial","volume":"20","author":"Day","year":"2021","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.pcl.2023.06.002_bib65","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.pediatrneurol.2019.05.005","article-title":"Impact of age and motor function in a phase 1\/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy","volume":"98","author":"Lowes","year":"2019","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.pcl.2023.06.002_bib66","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2021.01.012","article-title":"Clinical experience with gene therapy in older patients with spinal muscular atrophy","volume":"118","author":"Matesanz","year":"2021","journal-title":"Pediatr Neurol"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib67","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","article-title":"Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib68","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"issue":"7","key":"10.1016\/j.pcl.2023.06.002_bib69","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1001\/jamaneurol.2021.1272","article-title":"Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy","volume":"78","author":"Mendell","year":"2021","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.pcl.2023.06.002_bib70","unstructured":"Available at: https:\/\/www.reuters.com\/business\/healthcare-pharmaceuticals\/novartis-reports-zolgensma-caused-two-deaths-liver-failure-2022-08-11\/. September 18, 2022."},{"issue":"5","key":"10.1016\/j.pcl.2023.06.002_bib71","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1056\/NEJMoa2102047","article-title":"Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls","volume":"385","author":"Darras","year":"2021","journal-title":"N\u00a0Engl J Med"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib72","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S1474-4422(21)00367-7","article-title":"Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial","volume":"21","author":"Mercuri","year":"2022","journal-title":"Lancet Neurol"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib73","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/acn3.51239","article-title":"Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy","volume":"8","author":"Sergott","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.pcl.2023.06.002_bib74","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2022.04.006","article-title":"Mid- and long-term (at least 12\u00a0months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: a systematic review of real-world study data","volume":"39","author":"Erdos","year":"2022","journal-title":"Eur J Paediatr Neurol"},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib75","doi-asserted-by":"crossref","first-page":"1889841","DOI":"10.1080\/20016689.2021.1889841","article-title":"An updated cost-utility model for onasemnogene abeparvovec (Zolgensma\u00ae) in spinal muscular atrophy type 1 patients and comparison with evaluation by the institute for clinical and effectiveness review (ICER)","volume":"9","author":"Dean","year":"2021","journal-title":"J\u00a0Mark Access Health Policy"},{"issue":"6","key":"10.1016\/j.pcl.2023.06.002_bib76","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.jval.2020.09.021","article-title":"Early cost-effectiveness of onasemnogene abeparvovec-xioi (zolgensma) and nusinersen (spinraza) treatment for spinal muscular atrophy I in the netherlands with relapse scenarios","volume":"24","author":"Broekhoff","year":"2021","journal-title":"Value Health"},{"issue":"6","key":"10.1016\/j.pcl.2023.06.002_bib77","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1007\/s40273-019-00769-6","article-title":"Cost effectiveness of nusinersen in the treatment of patients with infantile-onset and later-onset spinal muscular atrophy in Sweden","volume":"37","author":"Zuluaga-Sanchez","year":"2019","journal-title":"Pharmacoeconomics"},{"issue":"4","key":"10.1016\/j.pcl.2023.06.002_bib78","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/mus.25268","article-title":"Myostatin inhibitor ACE-031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo-controlled clinical trial","volume":"55","author":"Campbell","year":"2017","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.pcl.2023.06.002_bib79","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/mus.27259","article-title":"A\u00a0phase Ib\/IIa, open-label, multiple ascending-dose trial of domagrozumab in fukutin-related protein limb-girdle muscular dystrophy","volume":"64","author":"Leung","year":"2021","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.pcl.2023.06.002_bib80","unstructured":"Available at: https:\/\/neuromuscular.wustl.edu\/synmot.html. Accessed September 20, 2022."},{"issue":"1","key":"10.1016\/j.pcl.2023.06.002_bib81","doi-asserted-by":"crossref","first-page":"e148","DOI":"10.1542\/peds.2011-0544","article-title":"The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"129","author":"Eckart","year":"2012","journal-title":"Pediatrics"},{"issue":"2","key":"10.1016\/j.pcl.2023.06.002_bib82","doi-asserted-by":"crossref","first-page":"e1500078","DOI":"10.1126\/sciadv.1500078","article-title":"Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model","volume":"1","author":"Nizzardo","year":"2015","journal-title":"Sci Adv"}],"container-title":["Pediatric Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031395523001050?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031395523001050?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:26:59Z","timestamp":1758475619000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0031395523001050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":82,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["S0031395523001050"],"URL":"https:\/\/doi.org\/10.1016\/j.pcl.2023.06.002","relation":{},"ISSN":["0031-3955"],"issn-type":[{"value":"0031-3955","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Spinal Muscular Atrophy","name":"articletitle","label":"Article Title"},{"value":"Pediatric Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pcl.2023.06.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}