{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:39:36Z","timestamp":1789763976381,"version":"4.0.1"},"reference-count":36,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":["Neurologic Clinics"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.ncl.2020.03.002","type":"journal-article","created":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T18:26:10Z","timestamp":1595269570000},"page":"505-518","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["Spinal Muscular Atrophy in the Treatment Era"],"prefix":"10.1016","volume":"38","author":[{"given":"Megan A.","family":"Waldrop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bakri H.","family":"Elsheikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ncl.2020.03.002_bib1","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":"10.1016\/j.ncl.2020.03.002_bib2","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.ncl.2020.03.002_bib3","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"},{"key":"10.1016\/j.ncl.2020.03.002_bib4","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"},{"key":"10.1016\/j.ncl.2020.03.002_bib5","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"},{"key":"10.1016\/j.ncl.2020.03.002_bib6","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"},{"key":"10.1016\/j.ncl.2020.03.002_bib7","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/acn3.283","article-title":"Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study","volume":"3","author":"Kolb","year":"2016","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.ncl.2020.03.002_bib8","doi-asserted-by":"crossref","first-page":"e1312","DOI":"10.1212\/WNL.0000000000006281","article-title":"Nusinersen in patients older than 7\u00a0months with spinal muscular atrophy type 1: a cohort study","volume":"91","author":"Aragon-Gawinska","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.002_bib9","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":"2","key":"10.1016\/j.ncl.2020.03.002_bib10","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/ppul.24203","article-title":"Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy","volume":"54","author":"Al-Zaidy","year":"2019","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.ncl.2020.03.002_bib11","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1093\/hmg\/ddt110","article-title":"Temporal requirement for SMN in motoneuron development","volume":"22","author":"Hao le","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ncl.2020.03.002_bib12","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"},{"key":"10.1016\/j.ncl.2020.03.002_bib13","doi-asserted-by":"crossref","first-page":"34635","DOI":"10.1038\/srep34635","article-title":"Survival motor neuron (SMN) protein is required for normal mouse liver development","volume":"6","author":"Szunyogova","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.ncl.2020.03.002_bib14","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"},{"key":"10.1016\/j.ncl.2020.03.002_bib15","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1038\/mt.2011.157","article-title":"Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders","volume":"19","author":"Bevan","year":"2011","journal-title":"Mol Ther"},{"key":"10.1016\/j.ncl.2020.03.002_bib16","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/B978-0-12-800149-3.00003-2","article-title":"Methods for gene transfer to the central nervous system","volume":"87","author":"Kantor","year":"2014","journal-title":"Adv Genet"},{"key":"10.1016\/j.ncl.2020.03.002_bib17","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/srep00253","article-title":"Systemic scAAV9 variant mediates brain transduction in newborn rhesus macaques","volume":"2","author":"Dehay","year":"2012","journal-title":"Sci Rep"},{"key":"10.1016\/j.ncl.2020.03.002_bib18","doi-asserted-by":"crossref","first-page":"e2492","DOI":"10.1212\/WNL.0000000000007527","article-title":"Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1\/2 studies","volume":"92","author":"Darras","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.002_bib19","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/mus.26633","article-title":"Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy","volume":"60","author":"Montes","year":"2019","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.002_bib20","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.92.15_supplement.S5.001","article-title":"Intrathecal nusinersen in older children and adults with spinal muscular atrophy (S5.001)","volume":"92","author":"Veerapandiyan","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.002_bib21","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.92.15_supplement.S5.008","article-title":"Outcome measures for nusinersen efficacy in adults with spinal muscular atrophy (S5.008)","volume":"92","author":"Yeo","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.002_bib22","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.92.15_supplement.S5.007","article-title":"Nusinersen treatment in adults with SMA\u2013the first year experience at a large center (S5.007)","volume":"92","author":"Drory","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.002_bib23","first-page":"146","article-title":"Calf muscle hypertrophy following S1 radiculopathy: a stress disorder caused by hyperactivity with variable response to treatmen","volume":"37","author":"Volpi","year":"2018","journal-title":"Clin Neuropathol"},{"key":"10.1016\/j.ncl.2020.03.002_bib24","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.002_bib25","first-page":"61","article-title":"Spinal muscular atrophy","volume":"18","author":"Rai","year":"2019","journal-title":"Pract Neurol"},{"key":"10.1016\/j.ncl.2020.03.002_bib26","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mus.21350","article-title":"An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy","volume":"40","author":"Elsheikh","year":"2009","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.002_bib27","unstructured":"Spinal muscular atrophy: disease mechanisms and therapy. In: Sumner CJ, Pushkin S, Ko CP. 1st edition. Academic Press."},{"key":"10.1016\/j.ncl.2020.03.002_bib28","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s11940-019-0568-z","article-title":"Current treatment options in neurology-SMA therapeutics","volume":"21","author":"Waldrop","year":"2019","journal-title":"Curr Treat Options Neurol"},{"issue":"4","key":"10.1016\/j.ncl.2020.03.002_bib29","first-page":"453","article-title":"Safety and treatment effects of nusinersen in longstanding adult 5q-SMA type 3\u2013a prospective observational study","volume":"6","author":"Walter","year":"2019","journal-title":"J\u00a0Neuromuscul Dis"},{"key":"10.1016\/j.ncl.2020.03.002_bib30","doi-asserted-by":"crossref","first-page":"e610","DOI":"10.1097\/BPO.0000000000001247","article-title":"Preliminary safety and tolerability of a novel subcutaneous intrathecal catheter system for repeated outpatient dosing of nusinersen to children and adults with spinal muscular atrophy","volume":"38","author":"Strauss","year":"2018","journal-title":"J\u00a0Pediatr Orthop"},{"key":"10.1016\/j.ncl.2020.03.002_bib31","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1007\/s00247-018-4206-9","article-title":"A\u00a0comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy","volume":"48","author":"Mousa","year":"2018","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.ncl.2020.03.002_bib32","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1016\/j.nmd.2019.08.007","article-title":"Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: transforaminal versus conventional approach","volume":"29","author":"Bortolani","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ncl.2020.03.002_bib33","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/mus.25430","article-title":"Revised upper limb module for spinal muscular atrophy: development of a new module","volume":"55","author":"Mazzone","year":"2017","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.002_bib34","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s12883-017-0790-9","article-title":"Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy","volume":"17","author":"Pera","year":"2017","journal-title":"BMC Neurol"},{"key":"10.1016\/j.ncl.2020.03.002_bib35","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/mus.26419","article-title":"Revised upper limb module for spinal muscular atrophy: 12\u00a0month changes","volume":"59","author":"Pera","year":"2019","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.002_bib36","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/mus.23904","article-title":"SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy","volume":"49","author":"Kissel","year":"2014","journal-title":"Muscle Nerve"}],"container-title":["Neurologic Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733861920300232?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733861920300232?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T10:16:45Z","timestamp":1760005005000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0733861920300232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S0733861920300232"],"URL":"https:\/\/doi.org\/10.1016\/j.ncl.2020.03.002","relation":{},"ISSN":["0733-8619"],"issn-type":[{"value":"0733-8619","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Spinal Muscular Atrophy in the Treatment Era","name":"articletitle","label":"Article Title"},{"value":"Neurologic Clinics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ncl.2020.03.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}