{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:30:40Z","timestamp":1786995040408,"version":"build-2736575974"},"reference-count":93,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1016\/j.nmd.2021.07.015","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T12:00:08Z","timestamp":1627387208000},"page":"1028-1037","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical outcome assessments in Duchenne muscular dystrophy and spinal muscular atrophy: past, present and future"],"prefix":"10.1016","volume":"31","author":[{"given":"Leslie L.","family":"Nelson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan T.","family":"Iannaccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0001","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/mus.23807","article-title":"The cooperative international neuromuscular research group Duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used","volume":"48","author":"McDonald","year":"2013","journal-title":"Muscle Nerve"},{"issue":"18","key":"10.1016\/j.nmd.2021.07.015_bib0002","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","article-title":"Pediatric Neuromuscular Clinical Research network for spinal muscular atrophy (PNCR). Prospective cohort study of spinal muscular atrophy types 2 and 3","volume":"79","author":"Kaufmann","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2021.07.015_bib0003","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":"10.1016\/j.nmd.2021.07.015_bib0004","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 Paediatr Neurol"},{"issue":"12","key":"10.1016\/j.nmd.2021.07.015_bib0005","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1177\/0883073811420294","article-title":"Validation of the expanded hammersmith functional motor scale in spinal muscular atrophy type II and III","volume":"26","author":"Glanzman","year":"2011","journal-title":"J Child Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0006","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.nmd.2012.09.006","article-title":"Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I","volume":"23","author":"Finkel","year":"2013","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0007","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/mus.25705","article-title":"Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: experience from a nusinersen clinical study","volume":"57","author":"Bishop","year":"2018","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0008","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":"4","key":"10.1016\/j.nmd.2021.07.015_bib0009","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PEP.0b013e3182351f04","article-title":"Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)","volume":"23","author":"Glanzman","year":"2011","journal-title":"Pediatr Phys Ther"},{"issue":"4","key":"10.1016\/j.nmd.2021.07.015_bib0010","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.nmd.2014.01.003","article-title":"Hammersmith functional motor scale and motor function measure-20 in non ambulant SMA patients","volume":"24","author":"Mazzone","year":"2014","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0011","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1469-8749.2011.03939.x","article-title":"North star clinical network for paediatric neuromuscular disease. Moving towards meaningful measurement: rasch analysis of the North star ambulatory assessment in Duchenne muscular dystrophy","volume":"53","author":"Mayhew","year":"2011","journal-title":"Dev Med Child Neurol"},{"issue":"11","key":"10.1016\/j.nmd.2021.07.015_bib0012","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1111\/dmcn.12220","article-title":"Detecting meaningful change using the North star ambulatory assessment in Duchenne muscular dystrophy","volume":"55","author":"Mayhew","year":"2013","journal-title":"Dev Med Child Neurol"},{"issue":"10","key":"10.1016\/j.nmd.2021.07.015_bib0013","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0108205","article-title":"Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes","volume":"9","author":"Pane","year":"2014","journal-title":"PLoS One"},{"issue":"11","key":"10.1016\/j.nmd.2021.07.015_bib0014","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1111\/dmcn.12213","article-title":"Development of the performance of the upper limb module for Duchenne muscular dystrophy","volume":"55","author":"Mayhew","year":"2013","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2021.07.015_bib0015","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/mus.23905","article-title":"The 6-minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study","volume":"48","author":"McDonald","year":"2013","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0016","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0172346","article-title":"Revised Hammersmith scale for spinal muscular atrophy: a SMA specific clinical outcome assessment tool","volume":"12","author":"Ramsey","year":"2017","journal-title":"PLoS One"},{"issue":"11","key":"10.1016\/j.nmd.2021.07.015_bib0017","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1016\/j.apmr.2013.04.001","article-title":"Motor function measure: validation of a short form for young children with neuromuscular diseases","volume":"94","author":"de Lattre","year":"2013","journal-title":"Arch Phys Med Rehabil"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0018","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1002\/mus.25120","article-title":"Six-minute walk test is reliable and valid in spinal muscular atrophy","volume":"54","author":"Dunaway Young","year":"2016","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0019","doi-asserted-by":"crossref","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.nmd.2021.07.015_bib0020","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/mus.24081","article-title":"Leg muscle function and fatigue during walking in spinal muscular atrophy type 3","volume":"50","author":"Montes","year":"2014","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.nmd.2021.07.015_bib0021","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/mus.23937","article-title":"Rasch analysis of clinical outcome measures in spinal muscular atrophy","volume":"49","author":"Cano","year":"2014","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0022","first-page":"149","article-title":"The NorthStar ambulatory assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials","volume":"87","author":"Ricotti","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0023","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1002\/ana.26044","article-title":"Assessing dysferlinopathy patients over three years with a new motor scale","volume":"89","author":"Jacobs","year":"2021","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0024","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/mus.22040","article-title":"Project Cure SMA. Reliability of the Modified Hammersmith functional motor scale in young children with spinal muscular atrophy","volume":"44","author":"Krosschell","year":"2011","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.nmd.2021.07.015_bib0025","doi-asserted-by":"crossref","first-page":"509","DOI":"10.3233\/JND-180327","article-title":"Motor function test reliability during the NeuroNEXT spinal muscular atrophy infant biomarker study","volume":"5","author":"Krosschell","year":"2018","journal-title":"J Neuromuscul Dis"},{"issue":"3","key":"10.1016\/j.nmd.2021.07.015_bib0026","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":"Neuromuscul Disord"},{"issue":"9\u201310","key":"10.1016\/j.nmd.2021.07.015_bib0027","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2007.05.009","article-title":"An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients","volume":"17","author":"O'Hagen","year":"2007","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0028","doi-asserted-by":"crossref","first-page":"159","DOI":"10.3233\/JND-180301","article-title":"Evaluator training and reliability for SMA Global Nusinersen Trials1","volume":"5","author":"Glanzman","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2021.07.015_bib0029","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.nmd.2009.06.368","article-title":"Reliability of the North Star ambulatory assessment in a multicentric setting","volume":"19","author":"Mazzone","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.07.015_bib0030","article-title":"The 6 min walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys","volume":"6","author":"Pane","year":"2014","journal-title":"PLoS Curr"},{"issue":"4","key":"10.1016\/j.nmd.2021.07.015_bib0031","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/mus.21544","article-title":"The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy","volume":"41","author":"McDonald","year":"2010","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0032","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.nmd.2017.02.007","article-title":"The 100-meter timed test: normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials","volume":"27","author":"Alfano","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0033","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.nmd.2021.07.015_bib0034","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/mus.880050405","article-title":"Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy","volume":"5","author":"Scott","year":"1982","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2021.07.015_bib0035","unstructured":"J.W.D. Lab. Adult test of neuromuscular disorders (ATEND) wheelchair based assessment. https:\/\/med.stanford.edu\/day-lab\/atend.html, 2021. [accessed 21 June 2021]."},{"issue":"11","key":"10.1016\/j.nmd.2021.07.015_bib0036","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.nmd.2016.10.002","article-title":"Developmental milestones in type I spinal muscular atrophy","volume":"26","author":"De Sanctis","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.07.015_bib0037","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"},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0038","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.nmd.2011.02.014","article-title":"Assessing upper limb function in nonambulant SMA patients: development of a new module","volume":"21","author":"Mazzone","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.07.015_bib0039","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"},{"issue":"4","key":"10.1016\/j.nmd.2021.07.015_bib0040","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/mus.26419","article-title":"Revised upper limb module for spinal muscular atrophy: 12\u2009month changes","volume":"59","author":"Pera","year":"2019","journal-title":"Muscle Nerve"},{"issue":"21","key":"10.1016\/j.nmd.2021.07.015_bib0041","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"},{"issue":"10","key":"10.1016\/j.nmd.2021.07.015_bib0042","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1212\/WNL.0b013e3181d3e308","article-title":"Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy","volume":"74","author":"Montes","year":"2010","journal-title":"Neurology"},{"issue":"10","key":"10.1016\/j.nmd.2021.07.015_bib0043","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/j.nmd.2017.07.007","article-title":"6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction","volume":"27","author":"Pera","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0044","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s12883-019-1244-3","article-title":"Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests","volume":"19","author":"Bartels","year":"2019","journal-title":"BMC Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0045","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s13023-020-1348-2","article-title":"Fatigability in spinal muscular atrophy: validity and reliability of endurance shuttle tests","volume":"15","author":"Bartels","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"10.1016\/j.nmd.2021.07.015_bib0046","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.nmd.2005.03.004","article-title":"A motor function measure for neuromuscular diseases. Construction and validation study","volume":"15","author":"B\u00e9rard","year":"2005","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.1016\/j.nmd.2021.07.015_bib0047","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1016\/j.apmr.2013.01.014","article-title":"MFM Spinal Muscular Atrophy Study Group. Responsiveness of the motor function measure in patients with spinal muscular atrophy","volume":"94","author":"Vuillerot","year":"2013","journal-title":"Arch Phys Med Rehabil"},{"issue":"9","key":"10.1016\/j.nmd.2021.07.015_bib0048","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0238786","article-title":"Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy","volume":"15","author":"Trundell","year":"2020","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0049","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1007\/s40120-020-00206-3","article-title":"Validity and reliability of the 32-item motor function measure in 2- to 5-year-olds with neuromuscular disorders and 2- to 25-year-olds with spinal muscular atrophy","volume":"9","author":"Trundell","year":"2020","journal-title":"Neurol Ther"},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0050","doi-asserted-by":"crossref","first-page":"e845","DOI":"10.1212\/WNL.0000000000011230","article-title":"Correlates of fatigability in patients with spinal muscular atrophy","volume":"96","author":"Bartels","year":"2021","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.nmd.2021.07.015_bib0051","doi-asserted-by":"crossref","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":"8","key":"10.1016\/j.nmd.2021.07.015_bib0052","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0160195","article-title":"Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy","volume":"11","author":"Mercuri","year":"2016","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0053","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ana.23982","article-title":"Eteplirsen for the treatment of Duchenne muscular dystrophy","volume":"74","author":"Mendell","year":"2013","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0054","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.24555","article-title":"Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy","volume":"79","author":"Mendell","year":"2016","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0055","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","article-title":"A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy","volume":"28","author":"Goemans","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"26","key":"10.1016\/j.nmd.2021.07.015_bib0056","doi-asserted-by":"crossref","first-page":"e15858","DOI":"10.1097\/MD.0000000000015858","article-title":"Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy","volume":"98","author":"Alfano","year":"2019","journal-title":"Medicine (Baltimore)"},{"issue":"17","key":"10.1016\/j.nmd.2021.07.015_bib0057","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1212\/WNL.0000000000004570","article-title":"A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy","volume":"89","author":"Victor","year":"2017","journal-title":"Neurology"},{"issue":"10101","key":"10.1016\/j.nmd.2021.07.015_bib0058","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0059","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1002\/mus.26191","article-title":"Deflazacort versus prednisone\/prednisolone for maintaining motor function and delaying loss of ambulation: a post HOC analysis from the ACT DMD trial","volume":"58","author":"Shieh","year":"2018","journal-title":"Muscle Nerve"},{"issue":"11","key":"10.1016\/j.nmd.2021.07.015_bib0060","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1016\/j.nmd.2010.06.014","article-title":"North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy","volume":"20","author":"Mazzone","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.07.015_bib0061","article-title":"The 6-minute walk test and person-reported outcomes in boys with Duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year","volume":"5","author":"Henricson","year":"2013","journal-title":"PLoS Curr."},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0062","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1002\/mus.21808","article-title":"The 6-minute walk test in Duchenne\/Becker muscular dystrophy: longitudinal observations","volume":"42","author":"McDonald","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2021.07.015_bib0063","doi-asserted-by":"crossref","first-page":"RRN1297","DOI":"10.1371\/currents.RRN1297","article-title":"Percent-predicted 6-minute walk distance in duchenne muscular dystrophy to account for maturational influences","volume":"4","author":"Henricson","year":"2012","journal-title":"PLoS Curr"},{"key":"10.1016\/j.nmd.2021.07.015_bib0064","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.pediatrneurol.2020.08.013","article-title":"Natural history of steroid-treated young boys with Duchenne muscular dystrophy using the NSAA, 100 m, and timed functional tests","volume":"113","author":"Miller","year":"2020","journal-title":"Pediatr Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0065","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1111\/dmcn.14361","article-title":"Performance of upper limb module for Duchenne muscular dystrophy","volume":"62","author":"Mayhew","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.nmd.2021.07.015_bib0066","unstructured":"STEP IN SMA Education. https:\/\/www.stepinsma.org\/education, 2021. [accessed 25 Jun 2021]."},{"issue":"7\u20138","key":"10.1016\/j.nmd.2021.07.015_bib0067","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1007\/s00508-020-01786-8","article-title":"Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic","volume":"133","author":"Sobierajska-Rek","year":"2021","journal-title":"Wien Klin Wochenschr"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0068","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/mus.25776","article-title":"Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I","volume":"57","author":"Krosschell","year":"2018","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0069","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.nmd.2005.11.010","article-title":"Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study","volume":"16","author":"Mercuri","year":"2006","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"10.1016\/j.nmd.2021.07.015_bib0070","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":"1","key":"10.1016\/j.nmd.2021.07.015_bib0071","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"},{"issue":"2","key":"10.1016\/j.nmd.2021.07.015_bib0072","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","article-title":"Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials","volume":"26","author":"Mercuri","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10.1016\/j.nmd.2021.07.015_bib0073","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1001\/archneurol.2010.373","article-title":"Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year","volume":"68","author":"Kaufmann","year":"2011","journal-title":"Arch Neurol"},{"issue":"8","key":"10.1016\/j.nmd.2021.07.015_bib0074","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.nmd.2013.06.001","article-title":"Six minute walk test in type III spinal muscular atrophy: a 12 month longitudinal study","volume":"23","author":"Mazzone","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.07.015_bib0075","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":"18","key":"10.1016\/j.nmd.2021.07.015_bib0076","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 Engl J Med"},{"issue":"18","key":"10.1016\/j.nmd.2021.07.015_bib0077","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 Engl J Med"},{"issue":"11","key":"10.1016\/j.nmd.2021.07.015_bib0078","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":"3","key":"10.1016\/j.nmd.2021.07.015_bib0079","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3233\/JND-190403","article-title":"AVXS-101 (Onasemnogene Abeparvovec) for SMA1: comparative study with a prospective natural history Cohort","volume":"6","author":"Al-Zaidy","year":"2019","journal-title":"J Neuromuscul Dis"},{"issue":"7","key":"10.1016\/j.nmd.2021.07.015_bib0080","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 Engl J Med"},{"key":"10.1016\/j.nmd.2021.07.015_bib0081","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1212\/WNL.0000000000002445","article-title":"Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy","volume":"86","author":"Chiriboga","year":"2016","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.nmd.2021.07.015_bib0082","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S1474-4422(17)30085-6","article-title":"Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial","volume":"16","author":"Bertini","year":"2017","journal-title":"Lancet Neurol"},{"issue":"4","key":"10.1016\/j.nmd.2021.07.015_bib0083","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"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0084","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1002\/acn3.51353","article-title":"Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy","volume":"8","author":"Montes","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2021.07.015_bib0085","doi-asserted-by":"crossref","first-page":"e52512","DOI":"10.1371\/journal.pone.0052512","article-title":"24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy","volume":"8","author":"Mazzone","year":"2013","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.nmd.2021.07.015_bib0086","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/mus.23902","article-title":"The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study","volume":"48","author":"McDonald","year":"2013","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.nmd.2021.07.015_bib0087","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1212\/WNL.0b013e318225ab2e","article-title":"Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study","volume":"77","author":"Mazzone","year":"2011","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.nmd.2021.07.015_bib0088","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.nmd.2019.02.002","article-title":"Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: a prospective multicentre study","volume":"29","author":"Ricotti","year":"2019","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"10.1016\/j.nmd.2021.07.015_bib0089","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.nmd.2016.05.016","article-title":"Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy","volume":"26","author":"Mercuri","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2021.07.015_bib0090","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/mus.26161","article-title":"Longitudinal timed function tests in Duchenne muscular dystrophy: imaging DMD cohort natural history","volume":"58","author":"Arora","year":"2018","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2021.07.015_bib0091","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1136\/jnnp-2012-303902","article-title":"Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy","volume":"84","author":"Ricotti","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"8","key":"10.1016\/j.nmd.2021.07.015_bib0092","doi-asserted-by":"crossref","first-page":"e866","DOI":"10.1212\/WNL.0000000000006950","article-title":"Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial","volume":"92","author":"Taylor","year":"2019","journal-title":"Neurology"},{"issue":"10","key":"10.1016\/j.nmd.2021.07.015_bib0093","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.nmd.2015.07.009","article-title":"Benefits of glucocorticoids in non-ambulant boys\/men with Duchenne muscular dystrophy: a multicentric longitudinal study using the performance of upper limb test","volume":"25","author":"Pane","year":"2015","journal-title":"Neuromuscul Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896621002029?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896621002029?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:10:54Z","timestamp":1760775054000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896621002029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":93,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["S0960896621002029"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2021.07.015","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical outcome assessments in Duchenne muscular dystrophy and spinal muscular atrophy: past, present and future","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2021.07.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}