{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T14:54:45Z","timestamp":1793717685176,"version":"4.6.1"},"reference-count":202,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,26]],"date-time":"2025-03-26T00:00:00Z","timestamp":1742947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","nmd-journal.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2025,4]]},"DOI":"10.1016\/j.nmd.2025.105341","type":"journal-article","created":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T12:40:08Z","timestamp":1741956008000},"page":"105341","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"special_numbering":"C","title":["Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review"],"prefix":"10.1016","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-9140","authenticated-orcid":false,"given":"R","family":"Muni-Lofra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Coratti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Duong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Medina-Cantillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Civitello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Mayhew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Finkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Marini-Bettolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0001","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin"},{"key":"10.1016\/j.nmd.2025.105341_bib0002","doi-asserted-by":"crossref","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy: a timely review","author":"Kolb","year":"2011","journal-title":"Arch Neurol."},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0003","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0004","first-page":"179","article-title":"Validation of the ICF core set for neuromuscular diseases","volume":"49","author":"Bos","year":"2013","journal-title":"Eur J Phys Rehabil Med"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0005","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.jclinepi.2007.03.012","article-title":"Recommended methods for determining responsiveness and minimally important differences for patient-reported outcomes","volume":"61","author":"Revicki","year":"2008","journal-title":"J Clin Epidemiol"},{"issue":"17","key":"10.1016\/j.nmd.2025.105341_bib0006","doi-asserted-by":"crossref","DOI":"10.3390\/ijerph18179134","article-title":"Motor function of children with SMA1 and SMA2 depends on the neck and trunk muscle strength, deformation of the spine, and the range of motion in the limb joints","volume":"18","author":"St\u0119pie\u0144","year":"2021","journal-title":"Int J Environ Res Public Health"},{"key":"10.1016\/j.nmd.2025.105341_bib0007","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1056\/NEJM191210241671701","article-title":"Muscle trainig in the treatment of infantile paralysis","volume":"167","author":"Wright","year":"1912","journal-title":"Boston Med Surg J;"},{"key":"10.1016\/j.nmd.2025.105341_bib0008","series-title":"Aids to the investigation of peripheral nerve injuries","year":"1976"},{"key":"10.1016\/j.nmd.2025.105341_bib0009","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1212\/WNL.0000000000003466","article-title":"Normative reference values for strength and flexibility of 1, 000 children and adults","volume":"88","author":"Mckay","year":"2017","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.nmd.2025.105341_bib0010","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1212\/01.wnl.0000324623.89105.c4","article-title":"Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude","volume":"71","author":"Deymeer","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2025.105341_bib0011","article-title":"Muscle strength and motor function throughout life in a cross- sectional cohort of 180 patients with SMA types 1c-4","author":"Wadman","year":"2017","journal-title":"Eur J Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0012","doi-asserted-by":"crossref","first-page":"228","DOI":"10.2340\/16501977-0507","article-title":"Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy","volume":"42","author":"Febrer","year":"2010","journal-title":"J Rehab Med : Off J UEMS Eur. Board Phys Rehab Med"},{"issue":"26","key":"10.1016\/j.nmd.2025.105341_bib0013","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/mus.10166","article-title":"Reliability of handheld dynamometer in spinal muscular atrophy","author":"Merlini","year":"2002","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0014","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1212\/WNL.59.4.609","article-title":"Pilot trial of albuterol in spinal muscular atrophy","volume":"59","author":"Kinali","year":"2002","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0015","first-page":"410","article-title":"Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection","volume":"12","author":"Fujak","year":"2010","journal-title":"Ortop Traumatol Rehabil"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0016","doi-asserted-by":"crossref","first-page":"27","DOI":"10.5604\/15093492.933792","article-title":"Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection","volume":"13","author":"Fujak","year":"2011","journal-title":"Ortop Traumatol Rehabil"},{"issue":"9","key":"10.1016\/j.nmd.2025.105341_bib0017","first-page":"807","article-title":"Contractures in neuromuscular disease","volume":"73","author":"Johnson ER","year":"1992","journal-title":"Arch Phys Med Rehabil"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0018","doi-asserted-by":"crossref","first-page":"305","DOI":"10.3109\/17483107.2010.525292","article-title":"Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients","volume":"6","author":"Fujak","year":"2011","journal-title":"Disab Rehab Assist Technol"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0019","article-title":"Interventions for increasing ankle range of motion in patients with neuromuscular disease","volume":"2","author":"Rose","year":"2010","journal-title":"Cochrane Database Syst Rev (Online)"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0020","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.pmr.2012.06.009","article-title":"Prevention and management of limb contractures in neuromuscular diseases","volume":"23","author":"Skalsky","year":"2012","journal-title":"Phys Med Rehabil Clin N Am"},{"issue":"10","key":"10.1016\/j.nmd.2025.105341_bib0021","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1016\/j.apmr.2004.01.043","article-title":"Joint range of motion limitations in children and young adults with spinal muscular atrophy","volume":"85","author":"Wang","year":"2004","journal-title":"Arch Phys Med Rehabil"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0022","doi-asserted-by":"crossref","DOI":"10.1097\/PEP.0000000000000515","article-title":"Quantitative evaluation of lower extremity joint contractures in spinal muscular atrophy: implications for motor function","volume":"30","author":"Salazar","year":"2018","journal-title":"Pediatric Phys Therapy"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0023","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1177\/088307389400900321","article-title":"Pulmonary function in spinal muscular atrophy","volume":"9","author":"Samaha","year":"1994","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2025.105341_bib0024","article-title":"Respiratory trajectories in type 2 and non-ambulant 3 spinal muscular atrophy in the iSMAC cohort study","author":"Trucco","year":"2020","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0025","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"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0026","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-020-01367-y","article-title":"Natural history of lung function in spinal muscular atrophy","volume":"15","author":"Wijngaarde","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"10.1016\/j.nmd.2025.105341_bib0027","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.spinee.2009.08.451","article-title":"Effects of scoliosis on respiratory muscle strength in patients with neuromuscular disorders","volume":"9","author":"Inal-Ince","year":"2009","journal-title":"The Spine J"},{"key":"10.1016\/j.nmd.2025.105341_bib0028","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.ejpn.2013.04.004","article-title":"Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3","volume":"17","author":"Khirani","year":"2013","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2025.105341_bib0029","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1183\/09031936.03.00048102","article-title":"Cough augmentation with mechanical insufflation\/exsufflation in patients with neuromuscular weakness","volume":"21","author":"Chatwin","year":"2003","journal-title":"Eur Respir J"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0030","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1177\/1479972314562209","article-title":"Mechanical insufflation\/exsufflation improves vital capacity in neuromuscular disorders","volume":"12","author":"Stehling","year":"2015","journal-title":"Chron Respir Dis"},{"issue":"8","key":"10.1016\/j.nmd.2025.105341_bib0031","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/j.annrmp.2007.03.018","article-title":"Effect of thoracic bracing on lung function in children with neuromuscular disease","volume":"50","author":"Morillon","year":"2007","journal-title":"Annales de Readaptation et de Medecine Physique"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0032","doi-asserted-by":"crossref","first-page":"505","DOI":"10.23736\/S1973-9087.18.05046-3","article-title":"Spinal bracing and lung function in type-2 spinal muscular atrophy","volume":"55","author":"Di Pede","year":"2019","journal-title":"Eur J Phys Rehabil Med"},{"issue":"SEP","key":"10.1016\/j.nmd.2025.105341_bib0033","article-title":"A new method for measuring bell-shaped chest induced by impaired ribcage muscles in spinal muscular atrophy children","volume":"9","author":"LoMauro","year":"2018","journal-title":"Front Neurol"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0034","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1080\/16501970510030156","article-title":"Physical complaints in ageing persons with spinal muscular atrophy","volume":"37","author":"de Groot","year":"2005","journal-title":"J Rehabil Med : Off J UEMS Eur Board Phys Rehabil Med"},{"issue":"9","key":"10.1016\/j.nmd.2025.105341_bib0035","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1007\/s00415-008-0929-0","article-title":"A natural history study of late onset spinal muscular atrophy types 3b and 4","volume":"255","author":"Piepers","year":"2008","journal-title":"J Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0036","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"},{"key":"10.1016\/j.nmd.2025.105341_bib0037","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.3390\/jcm12103458","article-title":"Measuring fatigue and fatigability in spinal muscular atrophy (SMA): challenges and opportunities","volume":"12","author":"Rodriguez-Torres","year":"2023","journal-title":"J Clin Med"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0038","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1177\/088307389701200507","article-title":"Muscle fatigue in spinal muscular atrophy","volume":"12","author":"Iannaccone","year":"1997","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2025.105341_bib0039","article-title":"Twelve-minute walking test for assessing disability in chronic bronchitis","volume":"3","author":"Mcgavin","year":"1976","journal-title":"Br Med J"},{"issue":"6329","key":"10.1016\/j.nmd.2025.105341_bib0040","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1136\/bmj.284.6329.1607","article-title":"Two-, six-, and 12-minute walking tests in respiratory disease","volume":"284","author":"Butland","year":"1982","journal-title":"Br Med J (Clin Res Ed)"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0041","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1378\/chest.119.1.256","article-title":"A qualitative systematic overview of the measurement properties of functional walk tests used in the cardiorespiratory domain","volume":"119","author":"Solway","year":"2001","journal-title":"Chest"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0042","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1186\/1756-0500-7-269","article-title":"Comparison of walking performance over the first 2min and the full 6min of the six-minute walk test","volume":"7","author":"Bohannon","year":"2014","journal-title":"BMC Res Notes"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0043","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":"10","key":"10.1016\/j.nmd.2025.105341_bib0044","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"},{"key":"10.1016\/j.nmd.2025.105341_bib0045","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":"12","key":"10.1016\/j.nmd.2025.105341_bib0046","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1111\/ene.14472","article-title":"Minimal clinically important differences in functional motor scores in adults with spinal muscular atrophy","volume":"27","author":"Stolte","year":"2020","journal-title":"Eur J Neurol"},{"issue":"0","key":"10.1016\/j.nmd.2025.105341_bib0047","doi-asserted-by":"crossref","DOI":"10.2490\/prm.20250001","article-title":"Calculation of the minimal clinically important difference in upper and lower limb motor assessment in spinal muscular atrophy","volume":"10","author":"Hara","year":"2025","journal-title":"Prog Rehabil Med"},{"issue":"24","key":"10.1016\/j.nmd.2025.105341_bib0048","doi-asserted-by":"crossref","first-page":"7582","DOI":"10.3390\/jcm12247582","article-title":"Assessing the assisted six-minute cycling test as a measure of endurance in non-ambulatory patients with spinal muscular atrophy (SMA)","volume":"12","author":"Tang","year":"2023","journal-title":"J Clin Med"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0049","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1186\/s13023-018-0904-5","article-title":"A continuous repetitive task to detect fatigability in spinal muscular atrophy","volume":"13","author":"Stam","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0050","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.2025.105341_bib0051","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1177\/104990910201900109","article-title":"Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease","volume":"19","author":"Abresch","year":"2002","journal-title":"Am J Hospice Palliat Med\u00ae"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0052","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1016\/j.apmr.2004.11.028","article-title":"Chronic pain in persons with neuromuscular disease","volume":"86","author":"Jensen","year":"2005","journal-title":"Arch Phys Med Rehabil"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0053","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1097\/BPO.0000000000002091","article-title":"Hip pain in patients with spinal muscular atrophy: prevalence, intensity, interference, and factors associated with moderate to severe pain","volume":"42","author":"Xu","year":"2022","journal-title":"J Pediatr Orthopaed"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0054","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.ejpn.2015.04.005","article-title":"Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy","volume":"19","author":"Lager","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"issue":"12","key":"10.1016\/j.nmd.2025.105341_bib0055","doi-asserted-by":"crossref","first-page":"2626","DOI":"10.1016\/j.pain.2013.05.048","article-title":"Cut points for mild, moderate, and severe pain on the VAS for children and adolescents: what can be learned from 10 million ANOVAs?","volume":"154","author":"Hirschfeld","year":"2013","journal-title":"Pain"},{"key":"10.1016\/j.nmd.2025.105341_bib0056","series-title":"Measurment of joint motion: a guide to goniometry","year":"1995"},{"key":"10.1016\/j.nmd.2025.105341_bib0057","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0020-1383(95)90116-7","article-title":"The neutral zero method \u2014 A principle of measuring joint function","volume":"26","author":"Chr","year":"1995","journal-title":"Injury"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0058","doi-asserted-by":"crossref","first-page":"e56","DOI":"10.1183\/20734735.012717","article-title":"The global lung function initiative (GLI) network: bringing the world's respiratory reference values together","volume":"13","author":"Cooper","year":"2017","journal-title":"Breathe."},{"key":"10.1016\/j.nmd.2025.105341_bib0059","first-page":"1020","article-title":"The new reference equations of the Global Lung function Initiative (GLI) for pulmonary function tests","volume":"35","author":"Guillien","year":"2018"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0060","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1378\/chest.119.1.256","article-title":"A qualitative systematic overview of the measurement properties of functional walk tests used in the cardiorespiratory domain","volume":"119","author":"Solway","year":"2001","journal-title":"Chest"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0061","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1093\/ptj\/64.4.491","article-title":"Effect of repeated eight-minute muscle loading on the angle of straight-leg raising","volume":"64","author":"Bohannon","year":"1984","journal-title":"Phys Ther"},{"key":"10.1016\/j.nmd.2025.105341_bib0062","article-title":"Twelve-minute walking test for assessing disability in chronic bronchitis","volume":"3","author":"Mcgavin","year":"1976","journal-title":"Br Med J"},{"issue":"6329","key":"10.1016\/j.nmd.2025.105341_bib0063","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1136\/bmj.284.6329.1607","article-title":"Two-, six-, and 12-minute walking tests in respiratory disease","volume":"284","author":"Butland","year":"1982","journal-title":"Br Med J (Clin Res Ed)"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0064","doi-asserted-by":"crossref","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":"1","key":"10.1016\/j.nmd.2025.105341_bib0065","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":"4","key":"10.1016\/j.nmd.2025.105341_bib0066","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/mus.21917","article-title":"Fatigue leads to gait changes in spinal muscular atrophy","volume":"43","author":"Montes","year":"2011","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0067","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":"SUPPL. 450","key":"10.1016\/j.nmd.2025.105341_bib0068","first-page":"86","article-title":"WHO Multicentre Growth Reference Study Group, De Onis M. WHO Motor Development Study: windows of achievement for six gross motor development milestones","volume":"450","year":"2006","journal-title":"Acta Paediatr"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0069","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":"Arch Neurol"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0070","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":"18","key":"10.1016\/j.nmd.2025.105341_bib0071","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":"2 Pt 1","key":"10.1016\/j.nmd.2025.105341_bib0072","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0022-3476(99)70016-8","article-title":"Optimality score for the neurologic examination of the infant at 12 and 18 months of age","volume":"135","author":"Haataja","year":"1999","journal-title":"J Pediatr"},{"issue":"11","key":"10.1016\/j.nmd.2025.105341_bib0073","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/j.earlhumdev.2008.05.007","article-title":"Neurological examination of preterm infants at term equivalent age","volume":"84","author":"Ricci","year":"2008","journal-title":"Early Hum Dev"},{"issue":"11","key":"10.1016\/j.nmd.2025.105341_bib0074","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.2025.105341_bib0075","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","author":"Bishop","year":"2017","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0076","first-page":"387","article-title":"Balance in elderly patients: the \u201cget-up and go\u201d test","volume":"67","author":"Mathias","year":"1986","journal-title":"Arch Phys Med Rehabil"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0077","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1111\/j.1532-5415.1991.tb01616.x","article-title":"The timed \u201cUp and go\u201d: a test of basic functional mobility for frail elderly persons","volume":"39","author":"Podsiadlo","year":"1991","journal-title":"J Am Geriatr Soc"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0078","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/mus.24153","article-title":"Performance of the timed \u201cup and go\u201d test in spinal muscular atrophy","volume":"50","author":"Dunaway","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2025.105341_bib0079","article-title":"Natural history of 10-meter walk\/run test performance in spinal muscular atrophy: a longitudinal analysis","author":"Krosschell","year":"2021","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0080","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/archdischild-2014-307396","article-title":"Timed motor function tests capacity in healthy children","volume":"101","author":"Chacon Pereira","year":"2016","journal-title":"Archives of disease in childhood"},{"issue":"16","key":"10.1016\/j.nmd.2025.105341_bib0081","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1212\/WNL.0000000000003847","article-title":"Reference values for developing responsive functional outcome measures across the lifespan","volume":"88","author":"McKay","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2025.105341_bib0082","series-title":"Bayley scales of infant development manual","author":"N","year":"1969"},{"key":"10.1016\/j.nmd.2025.105341_bib0083","series-title":"Bayley scales of infant and toddler development","author":"N","year":"2006"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0084","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":"5","key":"10.1016\/j.nmd.2025.105341_bib0085","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 Engl J Med"},{"key":"10.1016\/j.nmd.2025.105341_bib0086","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.nmd.2025.105341_bib0087","unstructured":"Campbell S.K. The test of infant motor performance: test user's manual, version 2.0: a trining manual. Chicago, IL; 2005."},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0088","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1067\/mpd.2001.117581","article-title":"Validity of the test of Infant motor performance for discriminating among infants with varying risk for poor motor outcome","volume":"139","author":"Campbell","year":"2001","journal-title":"J Pediatr"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0089","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/PEP.0b013e31815f66a6","article-title":"Validity of the TIMPSI for estimating concurrent performance on the test of infant motor performance","volume":"20","author":"Campbell","year":"2008","journal-title":"Pediatric Phys Therapy"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0090","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1097\/PEP.0b013e318181ae96","article-title":"The test of infant motor performance: reliability in spinal muscular atrophy type i","volume":"20","author":"Finkel","year":"2008","journal-title":"Pediatric Phys Therapy"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0091","doi-asserted-by":"crossref","DOI":"10.1097\/PEP.0b013e31828a205f","article-title":"Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I","volume":"25","author":"Krosschell","year":"2013","journal-title":"Pediatr Phys Ther"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0092","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":"4","key":"10.1016\/j.nmd.2025.105341_bib0093","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":"9","key":"10.1016\/j.nmd.2025.105341_bib0094","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.nmd.2025.105341_bib0095","unstructured":"Kolb S.J., Coffey C.S., Yankey J.W., Krosschell K., Arnold W.D., Rutkove S.B., et al. Natural history of infantile-onset spinal muscular atrophy. 2017;883\u201391."},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0096","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/ana.25533","article-title":"Nusinersen in type 1 spinal muscular atrophy: twelve-month real-world data","volume":"86","author":"Pane","year":"2019","journal-title":"Ann Neurol"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0097","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":"2","key":"10.1016\/j.nmd.2025.105341_bib0098","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":"7","key":"10.1016\/j.nmd.2025.105341_bib0099","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.nmd.2006.03.015","article-title":"A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy","volume":"16","author":"Krosschell","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105341_bib0100","doi-asserted-by":"crossref","DOI":"10.1177\/0883073811420294","article-title":"Validation of the expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III","author":"Glanzman","year":"2011","journal-title":"J Child Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0101","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":"1","key":"10.1016\/j.nmd.2025.105341_bib0102","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"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0103","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"},{"key":"10.1016\/j.nmd.2025.105341_bib0104","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2020.07.005","article-title":"Age and baseline values predict 12 and 24-month functional changes in type 2 SMA","author":"Coratti","year":"2020","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105341_bib0105","article-title":"Long-term natural history in type II and III spinal muscular atrophy a 4-year","author":"Annemarie","year":"2024","journal-title":"Euro J Neurol"},{"issue":"7","key":"10.1016\/j.nmd.2025.105341_bib0106","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.2025.105341_bib0107","doi-asserted-by":"crossref","first-page":"453","DOI":"10.3233\/JND-190416","article-title":"Safety and treatment effects of Nusinersen in longstanding adult 5q-SMA Type3\u2013A prospective observational study","author":"Walter","year":"2019","journal-title":"J Neuromuscul Dis IOS Press"},{"key":"10.1016\/j.nmd.2025.105341_bib0108","first-page":"acn3.51411","article-title":"Nusinersen in pediatric and adult patients with type III spinal muscular atrophy","author":"Pera","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"issue":"8","key":"10.1016\/j.nmd.2025.105341_bib0109","doi-asserted-by":"crossref","DOI":"10.1111\/ene.16309","article-title":"Determining minimal clinically important differences in the Hammersmith Functional Motor Scale expanded for untreated spinal muscular atrophy patients: an international study","volume":"31","author":"Coratti","year":"2024","journal-title":"Eur J Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0110","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":"3","key":"10.1016\/j.nmd.2025.105341_bib0111","doi-asserted-by":"crossref","first-page":"665","DOI":"10.3233\/JND-230211","article-title":"Disease trajectories in the revised Hammersmith scale in a cohort of untreated patients with spinal muscular atrophy types 2 and 3","volume":"11","author":"Wolfe","year":"2024","journal-title":"J Neuromuscul Dis"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0112","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"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0113","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":"5","key":"10.1016\/j.nmd.2025.105341_bib0114","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1002\/mus.27384","article-title":"Different trajectories in upper limb and gross motor function in spinal muscular atrophy","volume":"64","author":"Coratti","year":"2021","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2025.105341_bib0115","doi-asserted-by":"crossref","DOI":"10.1002\/mus.26419","article-title":"Revised upper limb module for spinal muscular atrophy: 12 month changes","author":"Pera","year":"2019","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2025.105341_bib0116","first-page":"mus.26769","article-title":"Nusinersen for older patients with spinal muscular atrophy: a real-world clinical setting experience","author":"Veerapandiyan","year":"2019","journal-title":"Muscle Nerve"},{"issue":"7","key":"10.1016\/j.nmd.2025.105341_bib0117","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":"Berard","year":"2005","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.1016\/j.nmd.2025.105341_bib0118","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":"7","key":"10.1016\/j.nmd.2025.105341_bib0119","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"},{"key":"10.1016\/j.nmd.2025.105341_bib0120","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2017.06.154","article-title":"Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy","volume":"27","author":"Chabanon","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0121","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.nmd.2025.105341_bib0122","article-title":"Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers\u2019 perspective: a two-part study","volume":"21","author":"Duong","year":"2021","journal-title":"BMC Neurol"},{"key":"10.1016\/j.nmd.2025.105341_bib0123","article-title":"A patient-centered evaluation of meaningful change on the 32-item motor function measure in spinal muscular atrophy using qualitative and quantitative data","volume":"12","author":"Duong","year":"2021","journal-title":"Front Neurol"},{"key":"10.1016\/j.nmd.2025.105341_bib0124","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000010540","article-title":"Muscle strength and motor function in adolescents and adults with spinal muscular atrophy","author":"Wijngaarde","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2025.105341_bib0125","unstructured":"Duong T. Development and validation for the adapted test of neuromuscular disorders (ATEND), a functional motor outcome measure [Internet]. Available from: https:\/\/med.stanford.edu\/day-lab\/atend.html."},{"key":"10.1016\/j.nmd.2025.105341_bib0126","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.pediatrneurol.2021.05.021","article-title":"Validity and reliability of the neuromuscular gross motor outcome","volume":"122","author":"Alfano","year":"2021","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0127","doi-asserted-by":"crossref","first-page":"239","DOI":"10.3233\/JND-221595","article-title":"Patient reported outcome measures in adult spinal muscular atrophy: a scoping review and graphical visualization of the evidence","volume":"10","author":"Slayter","year":"2022","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2025.105341_bib0128","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/j.nmd.2019.10.001","article-title":"A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy","volume":"29","author":"Messina","year":"2019","journal-title":"Neuromuscul Disord. Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0129","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1097\/00005650-199902000-00003","article-title":"The PedsQL\u2122: measurement model for the pediatric quality of life inventory","volume":"37","author":"Varni","year":"1999","journal-title":"Med Care"},{"issue":"8","key":"10.1016\/j.nmd.2025.105341_bib0130","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1097\/00005650-200108000-00006","article-title":"PedsQL\u2122 4.0: reliability and validity of the pediatric Quality of Life Inventory\u2122 version 4.0 generic core scales in healthy and patient populations","volume":"39","author":"Varni","year":"2001","journal-title":"Med Care"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0131","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1017\/S001216220600096X","article-title":"The PedsQL in pediatric cerebral palsy: reliability, validity, and sensitivity of the Generic Core Scales and Cerebral Palsy module","volume":"48","author":"Varni","year":"2006","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0132","doi-asserted-by":"crossref","first-page":"631","DOI":"10.2337\/diacare.26.3.631","article-title":"The PedsQL\u2122 in type 1 and type 2 diabetes: reliability and validity of the Pediatric Quality of Life Inventory\u2122 generic core scales and type 1 diabetes module","volume":"26","author":"Varni","year":"2003","journal-title":"Diabetes Care"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0133","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/art.10095","article-title":"The PedsQL\u2122 in pediatric rheumatology: reliability, validity, and responsiveness of the Pediatric Quality of Life Inventory\u2122 Generic Core scales and rheumatology module","volume":"46","author":"Varni","year":"2002","journal-title":"Arthritis Rheum"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0134","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1023\/B:JOBM.0000028500.53608.2c","article-title":"The PedsQL in pediatric asthma: reliability and validity of the Pediatric Quality of Life Inventory generic core scales and asthma module","volume":"27","author":"Varni","year":"2004","journal-title":"J Behav Med"},{"issue":"12","key":"10.1016\/j.nmd.2025.105341_bib0135","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.nmd.2009.09.009","article-title":"The PedsQL\u2122 in pediatric patients with Spinal muscular atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory\u2122 generic core scales and neuromuscular module","volume":"19","author":"Iannaccone","year":"2009","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0136","doi-asserted-by":"crossref","first-page":"463","DOI":"10.3233\/JND-150101","article-title":"Single-blind, randomized, controlled clinical trial of exercise in ambulatory spinal muscular atrophy: why are the results negative?","volume":"2","author":"Montes","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2025.105341_bib0137","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.pediatrneurol.2014.01.037","article-title":"Health-related quality of life in children and adolescents with spinal muscular atrophy in the Czech Republic","volume":"50","author":"Kocova Msc","year":"2014","journal-title":"Pediatr Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0138","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13023-016-0424-0","article-title":"Disease burden of spinal muscular atrophy in Germany","volume":"11","author":"Klug","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"18","key":"10.1016\/j.nmd.2025.105341_bib0139","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":"11","key":"10.1016\/j.nmd.2025.105341_bib0140","doi-asserted-by":"crossref","first-page":"2615","DOI":"10.1007\/s11136-015-1013-8","article-title":"Construction of a quality of life questionnaire for slowly progressive neuromuscular disease","volume":"24","author":"Dany","year":"2015","journal-title":"Quality of Life Research"},{"key":"10.1016\/j.nmd.2025.105341_bib0141","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1023\/B:QURE.0000018486.91360.00","article-title":"The World Health Organization's WHOQOL-BREF quality of life assessment: psychometric properties and results of the international field trial a report from the WHOQOL Group","volume":"13","author":"Skevington","year":"2004","journal-title":"Qual Life Res"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0142","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1002\/mus.25598","article-title":"The quality of life in genetic neuromuscular disease questionnaire: rasch validation of the French version","volume":"56","author":"Dany","year":"2017","journal-title":"Muscle Nerve"},{"issue":"13","key":"10.1016\/j.nmd.2025.105341_bib0143","doi-asserted-by":"crossref","first-page":"E1206","DOI":"10.1212\/WNL.0000000000006241","article-title":"Patient reported impact of symptoms in spinal muscular atrophy (PRISM-SMA)","volume":"91","author":"Mongiovi","year":"2018","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0144","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1002\/mus.27223","article-title":"The Spinal Muscular Atrophy Health Index: a novel outcome for measuring how a patient feels and functions","volume":"63","author":"Zizzi","year":"2021","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0145","doi-asserted-by":"crossref","first-page":"375","DOI":"10.3109\/07853890109002092","article-title":"The Health Utilities Index (HUI\u00ae) system for assessing health-related quality of life in clinical studies","volume":"33","author":"Furlong","year":"2001","journal-title":"Ann Med"},{"key":"10.1016\/j.nmd.2025.105341_bib0146","doi-asserted-by":"crossref","DOI":"10.1186\/1477-7525-1-54","article-title":"The Health Utilities Index (HUI): concepts, measurement properties and applications","volume":"1","author":"Horsman","year":"2003","journal-title":"Health Qual Life Outcomes"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0147","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1212\/WNL.0000000000000669","article-title":"The burden of Duchenne muscular dystrophy: an international, cross-sectional study","volume":"83","author":"Landfeldt","year":"2014","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0148","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1111\/dmcn.12938","article-title":"Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study","volume":"58","author":"Landfeldt","year":"2016","journal-title":"Dev Med Child Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0149","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1186\/s13023-020-01498-2","article-title":"Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey","volume":"15","author":"Belter","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0150","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1097\/00005650-199206000-00002","article-title":"The MOS 36-item short-form health survey (SF-36)","volume":"30","author":"Ware","year":"1992","journal-title":"Med Care"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0151","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/mus.23245","article-title":"Quality of life and measures of quality of life in patients with neuromuscular disorders","volume":"46","author":"Burns","year":"2012","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0152","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.spinee.2014.09.030","article-title":"Postoperative quality of life in patients with progressive neuromuscular scoliosis and their parents","volume":"15","author":"Suk","year":"2015","journal-title":"The Spine J"},{"issue":"7","key":"10.1016\/j.nmd.2025.105341_bib0153","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.nmd.2010.05.011","article-title":"Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers","volume":"20","author":"Read","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0154","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1002\/mus.25148","article-title":"Correlates of health related quality of life in adult patients with spinal muscular atrophy","volume":"54","author":"Kruitwagen-Van Reenen","year":"2016","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0155","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1002\/mus.26201","article-title":"Social participation of adult patients with spinal muscular atrophy: frequency, restrictions, satisfaction, and correlates","volume":"58","author":"Kruitwagen-van Reenen","year":"2018","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0156","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3109\/07853890109002087","article-title":"EQ-5D: a measure of health status from the EuroQol Group","volume":"33","author":"Rabin","year":"2001","journal-title":"Ann Med"},{"issue":"9","key":"10.1016\/j.nmd.2025.105341_bib0157","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1016\/j.jval.2021.03.009","article-title":"Mapping EQ-5D-3L to EQ-5D-5L","volume":"24","author":"van Hout","year":"2021","journal-title":"Value Health"},{"key":"10.1016\/j.nmd.2025.105341_bib0158","series-title":"PEDI-CAT: development, standardization and administration manual","author":"Haley","year":"2012"},{"issue":"11","key":"10.1016\/j.nmd.2025.105341_bib0159","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.2522\/ptj.20140339","article-title":"Pediatric evaluation of disability inventory computer adaptive test (PEDI-CAT) and Alberta Infant Motor Scale (AIMS): validity and responsiveness","volume":"95","author":"Dumas","year":"2015","journal-title":"Phys Ther"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0160","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/mus.25164","article-title":"Rasch analysis of the pediatric evaluation of disability inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy","volume":"54","author":"Pasternak","year":"2016","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0161","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/pri.221","article-title":"Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy","volume":"6","author":"Steffensen","year":"2001","journal-title":"Physiother Res Int"},{"issue":"5 Suppl","key":"10.1016\/j.nmd.2025.105341_bib0162","doi-asserted-by":"crossref","first-page":"S70","DOI":"10.1097\/00002060-199509001-00003","article-title":"Profiles of neuromuscular diseases. Duchenne muscular dystrophy","volume":"74","author":"McDonald","year":"1995","journal-title":"Am J Phys Med Rehabil \/Assoc Acad Physiat"},{"issue":"9","key":"10.1016\/j.nmd.2025.105341_bib0163","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.nmd.2008.06.059","article-title":"Egen Classification revisited in SMA","volume":"18","author":"Steffensen","year":"2008","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"10.1016\/j.nmd.2025.105341_bib0164","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1590\/0004-282x20190161","article-title":"The association of hand grip strength with functional measures in non-ambulatory children with Duchenne muscular dystrophy","volume":"77","author":"Bulut","year":"2019","journal-title":"Arq Neuropsiquiatr"},{"issue":"25","key":"10.1016\/j.nmd.2025.105341_bib0165","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.3109\/09638288.2014.892157","article-title":"The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II","volume":"36","author":"Werlauff","year":"2014","journal-title":"Disabil Rehabil"},{"issue":"6","key":"10.1016\/j.nmd.2025.105341_bib0166","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.nmd.2007.02.013","article-title":"ACTIVLIM: a Rasch-built measure of activity limitations in children and adults with neuromuscular disorders","volume":"17","author":"Vandervelde","year":"2007","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"10.1016\/j.nmd.2025.105341_bib0167","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1016\/j.apmr.2008.01.024","article-title":"A comparison between self-reported and observed activity limitations in adults with neuromuscular disorders","volume":"89","author":"Vandervelde","year":"2008","journal-title":"Arch Phys Med Rehabil"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0168","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.nmd.2015.12.004","article-title":"How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?","volume":"26","author":"Batcho","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2025.105341_bib0169","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2021.120059","article-title":"Development of the SMA independence scale\u2013upper limb module (SMAIS\u2013ULM): a novel scale for individuals with type 2 and non-ambulant type 3 SMA","volume":"432","author":"Trundell","year":"2022","journal-title":"J Neurol Sci"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0170","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/mus.27785","article-title":"Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis","volume":"67","author":"Sadjadi","year":"2023","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0171","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.nmd.2025.105341_bib0172","doi-asserted-by":"crossref","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."},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0173","doi-asserted-by":"crossref","first-page":"353","DOI":"10.2165\/00019053-199304050-00006","article-title":"The validity and reproducibility of a work productivity and activity impairment instrument","volume":"4","author":"MC","year":"1993","journal-title":"Pharmacoeconomics"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0174","doi-asserted-by":"crossref","DOI":"10.1186\/ar3141","article-title":"Validity of the work productivity and activity impairment questionnaire\u2013general health version in patients with rheumatoid arthritis","volume":"12","author":"Zhang","year":"2010","journal-title":"Arthritis Res Ther"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0175","doi-asserted-by":"crossref","first-page":"225","DOI":"10.2165\/00019053-200422040-00002","article-title":"A review of self-report instruments measuring health-related work productivity: a patient-reported outcomes perspective","volume":"22","author":"Prasad","year":"2004","journal-title":"Pharmacoeconomics"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0176","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1097\/BPO.0b013e31820fc522","article-title":"Development and initial validation of the assessment of caregiver experience with neuromuscular disease","volume":"31","author":"Matsumoto","year":"2011","journal-title":"J Pediatr Orthopaed"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0177","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3233\/JND-180342","article-title":"Perceived fatigue in spinal muscular atrophy: a pilot study","volume":"6","author":"Dunaway Young","year":"2019","journal-title":"J Neuromuscul Dis"},{"issue":"10","key":"10.1016\/j.nmd.2025.105341_bib0178","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1001\/archneur.1989.00520460115022","article-title":"The fatigue severity scale: application to patients with multiple sclerosis and systemic lupus erythematosus","volume":"46","author":"Krupp","year":"1989","journal-title":"Arch Neurol"},{"issue":"8","key":"10.1016\/j.nmd.2025.105341_bib0179","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1212\/WNL.53.8.1648","article-title":"Fatigue in immune-mediated polyneuropathies","volume":"53","author":"Merkies","year":"1999","journal-title":"Neurology"},{"issue":"11","key":"10.1016\/j.nmd.2025.105341_bib0180","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1093\/sleep\/31.11.1601","article-title":"Validation of the fatigue severity scale in a Swiss cohort","volume":"31","author":"Valko","year":"2008","journal-title":"Sleep"},{"issue":"7","key":"10.1016\/j.nmd.2025.105341_bib0181","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00415-006-0434-2","article-title":"Fatigue: an important feature of late-onset Pompe disease","volume":"254","author":"Hagemans","year":"2007","journal-title":"J Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0182","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1023\/A:1008960710415","article-title":"Psychometric evaluation of the fatigue severity scale for use in chronic hepatitis C","volume":"9","author":"Kleinman","year":"2000","journal-title":"Q Life Res"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0183","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s11136-010-9769-3","article-title":"Psychometric evaluation of the fatigue severity scale in patients with major depression","volume":"20","author":"Ferentinos","year":"2011","journal-title":"Q Life Res"},{"issue":"12","key":"10.1016\/j.nmd.2025.105341_bib0184","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1016\/j.nmd.2013.06.370","article-title":"184th ENMC international workshop: pain and fatigue in neuromuscular disorders. 20-22 May 2011, Naarden, The Netherlands","volume":"23","author":"De Groot","year":"2013","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0185","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1007\/s11136-013-0565-8","article-title":"Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale","volume":"23","author":"Werlauff","year":"2014","journal-title":"Qual Life Res"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0186","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1080\/14034940410028406","article-title":"Fatigue in the general population: a translation and test of the psychometric properties of the Norwegian version of the fatigue severity scale","volume":"33","author":"Lerdal","year":"2005","journal-title":"Scand J Public Health"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0187","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-68051-w","article-title":"Fatigue in adults with spinal muscular atrophy under treatment with nusinersen","volume":"10","author":"Kizina","year":"2020","journal-title":"Sci Rep"},{"issue":"5","key":"10.1016\/j.nmd.2025.105341_bib0188","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.outlook.2014.05.009","article-title":"Patient-reported outcomes measurement information system (PROMIS): efficient, standardized tools to measure self-reported health and quality of life","volume":"62","author":"Bevans","year":"2014","journal-title":"Nurs Outlook"},{"issue":"4","key":"10.1016\/j.nmd.2025.105341_bib0189","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1097\/NNR.0000000000000162","article-title":"Psychometric evaluation of the patient-reported outcomes measurement information system fatigue-short form across diverse populations","volume":"65","author":"Ameringer","year":"2016","journal-title":"Nurs Res"},{"key":"10.1016\/j.nmd.2025.105341_bib0190","unstructured":"Northwestern University \u2022 funding for HealthMeasures was provided by the National Institutes of Health grant U2C CA186878. https:\/\/www.healthmeasures.net\/[Internet]. 2022. Available from: https:\/\/www.healthmeasures.net\/score-and-interpret\/interpret-scores\/promis\/t-score-maps."},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0191","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0304-3959(83)90143-4","article-title":"Development of the Wisconsin Brief Pain Questionnaire to assess pain in cancer and other diseases","volume":"17","author":"Daut","year":"1983","journal-title":"Pain."},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0192","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.jphys.2015.07.001","article-title":"The Brief pain Inventory (BPI)","volume":"62","author":"Poquet","year":"2016","journal-title":"J Physiother"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0193","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/0304-3959(87)91074-8","article-title":"The short-form McGill Pain Questionnaire","volume":"30","author":"Melzack","year":"1987","journal-title":"Pain."},{"issue":"18","key":"10.1016\/j.nmd.2025.105341_bib0194","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":"12","key":"10.1016\/j.nmd.2025.105341_bib0195","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","article-title":"Spinal muscular atrophy - insights and challenges in the treatment era","volume":"16","author":"Mercuri","year":"2020","journal-title":"Nat Rev Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2025.105341_bib0196","doi-asserted-by":"crossref","first-page":"56","DOI":"10.3390\/ijns10030056","article-title":"Systematic review of presymptomatic treatment for spinal muscular atrophy","volume":"10","author":"Cooper","year":"2024","journal-title":"Int J Neonatal Screen"},{"key":"10.1016\/j.nmd.2025.105341_bib0197","first-page":"1","article-title":"Patients with spinal muscular atrophy type 1 achieve and maintain bulbar function following Onasemnogene Abeparvovec treatment","author":"McGrattan","year":"2023","journal-title":"J Neuromuscul Dis"},{"issue":"2","key":"10.1016\/j.nmd.2025.105341_bib0198","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1093\/brain\/awac252","article-title":"Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy","volume":"146","author":"Pechmann","year":"2023","journal-title":"Brain"},{"issue":"Suppl 1","key":"10.1016\/j.nmd.2025.105341_bib0199","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s40273-021-01118-2","article-title":"Patient and caregiver treatment preferences in type 2 and non-ambulatory type 3 spinal muscular atrophy: a discrete choice experiment survey in five European countries","volume":"40","author":"Lo","year":"2022","journal-title":"Pharmacoeconomics"},{"key":"10.1016\/j.nmd.2025.105341_bib0200","doi-asserted-by":"crossref","first-page":"639","DOI":"10.3233\/JND-221672","article-title":"Development of an International SMA Bulbar Assessment for inter-professional administration","volume":"10","author":"Young","year":"2023","journal-title":"J Neuromuscul Dis"},{"issue":"1","key":"10.1016\/j.nmd.2025.105341_bib0201","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3233\/JND-180342","article-title":"Perceived fatigue in spinal muscular atrophy: a pilot study","volume":"6","author":"Dunaway Young","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2025.105341_bib0202","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.3390\/jcm12103458","article-title":"Measuring fatigue and fatigability in spinal muscular atrophy (SMA): challenges and opportunities","volume":"12","author":"Rodriguez-Torres","year":"2023","journal-title":"J Clin Med"}],"updated-by":[{"DOI":"10.1016\/j.nmd.2025.105391","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000}}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896625000689?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896625000689?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:17:16Z","timestamp":1746749836000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896625000689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":202,"alternative-id":["S0960896625000689"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2025.105341","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2025.105341","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"105341"}}