{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:46:07Z","timestamp":1790045167548,"version":"4.0.1"},"reference-count":83,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T00:00:00Z","timestamp":1637280000000},"content-version":"vor","delay-in-days":202,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"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":[[2021,5]]},"DOI":"10.1016\/j.nmd.2021.01.012","type":"journal-article","created":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T11:09:30Z","timestamp":1612523370000},"page":"419-430","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"title":["Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy"],"prefix":"10.1016","volume":"31","author":[{"given":"Nicole","family":"Gusset","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Stalens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Stumpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori","family":"Klouvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Mejat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Ouillade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menc\u00eda","family":"de Lemus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2021.01.012_bib0001","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.01.012_bib0002","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.2021.01.012_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 EJHG"},{"key":"10.1016\/j.nmd.2021.01.012_bib0004","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2021.01.012_bib0005","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2021.01.012_bib0006","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"PNAS USA"},{"key":"10.1016\/j.nmd.2021.01.012_bib0007","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13023-020-01356-1","article-title":"Longitudinal natural history of type I spinal muscular atrophy: a critical review","volume":"15","author":"Mercuri","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.01.012_bib0008","doi-asserted-by":"crossref","first-page":"S209","DOI":"10.1016\/j.nmd.2017.06.415","article-title":"Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study update","volume":"27","author":"Mercuri","year":"2017","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0009","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0010","doi-asserted-by":"crossref","first-page":"2695","DOI":"10.1111\/jan.13042","article-title":"Living with illness and self-transcendence: the lived experience of patients with spinal muscular atrophy","volume":"72","author":"Ho","year":"2016","journal-title":"J Adv Nurs"},{"key":"10.1016\/j.nmd.2021.01.012_bib0011","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"},{"key":"10.1016\/j.nmd.2021.01.012_bib0012","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"},{"key":"10.1016\/j.nmd.2021.01.012_bib0013","doi-asserted-by":"crossref","first-page":"88","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"},{"key":"10.1016\/j.nmd.2021.01.012_bib0014","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1186\/1471-2474-14-283","article-title":"Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients","volume":"14","author":"Fujak","year":"2013","journal-title":"BMC Musculoskelet Disord"},{"key":"10.1016\/j.nmd.2021.01.012_bib0015","series-title":"Spinal Muscular Atrophy","author":"Prior","year":"1993"},{"key":"10.1016\/j.nmd.2021.01.012_bib0016","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 NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0017","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1186\/s12883-015-0473-3","article-title":"Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study","volume":"15","author":"Qian","year":"2015","journal-title":"BMC Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0018","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1136\/jnnp-2017-317412","article-title":"Nusinersen for SMA: expanded access programme","volume":"89","author":"Farrar","year":"2018","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2021.01.012_bib0019","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13023-017-0695-0","article-title":"Social\/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain","volume":"12","author":"Lopez-Bastida","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.01.012_bib0020","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1080\/13696998.2016.1198355","article-title":"The economic burden of spinal muscular atrophy","volume":"19","author":"Armstrong","year":"2016","journal-title":"J Med Econ"},{"key":"10.1016\/j.nmd.2021.01.012_bib0021","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1080\/13696998.2016.1202833","article-title":"Counting the cost of spinal muscular atrophy","volume":"19","author":"Gillingwater","year":"2016","journal-title":"J Med Econ"},{"key":"10.1016\/j.nmd.2021.01.012_bib0022","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"},{"key":"10.1016\/j.nmd.2021.01.012_bib0023","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejpn.2019.03.004","article-title":"Quality of life of patients with spinal muscular atrophy: a systematic review","volume":"23","author":"Landfeldt","year":"2019","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"key":"10.1016\/j.nmd.2021.01.012_bib0024","unstructured":"Biogen Inc. SPINRAZA\u24c7 (nusinersen) US prescribing information. Dec 2016 [cited 2020 29 June]; Available from: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2016\/209531lbl.pdf."},{"key":"10.1016\/j.nmd.2021.01.012_bib0025","unstructured":"Biogen Inc. SPINRAZA\u24c7 (nusinersen) EMA prescribing information. Dec 2017 [cited 2020 29 June]; Available from: http:\/\/www.ema.europa.eu\/docs\/en_GB\/document_library\/EPAR_-_Product_Information\/human\/004312\/WC500229704.pdf."},{"key":"10.1016\/j.nmd.2021.01.012_bib0026","unstructured":"AveXis Inc. ZOLGENSMA\u24c7 (onasemnogene abeparvovec-xioi) US prescribing information. May 2019 [cited 2020 29 June]; Available from: https:\/\/www.fda.gov\/media\/126109\/download."},{"key":"10.1016\/j.nmd.2021.01.012_bib0027","unstructured":"European Medicines Agency. Zolgensma. May 2020 [cited 2020 30 June]; Available from: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/zolgensma."},{"key":"10.1016\/j.nmd.2021.01.012_bib0028","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1007\/s40265-019-01162-5","article-title":"Onasemnogene abeparvovec: first global approval","volume":"79","author":"Hoy","year":"2019","journal-title":"Drugs"},{"key":"10.1016\/j.nmd.2021.01.012_bib0029","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J Med Chem"},{"key":"10.1016\/j.nmd.2021.01.012_bib0030","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3233\/JND-190424","article-title":"advances in treatment of spinal muscular atrophy - new phenotypes, new challenges, new implications for care","volume":"7","author":"Schorling","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2021.01.012_bib0031","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","article-title":"Consensus statement for standard of care in spinal muscular atrophy","volume":"22","author":"Wang","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0032","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0033","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1007\/s11940-008-0044-7","article-title":"Spinal muscular atrophy: advances in research and consensus on care of patients","volume":"10","author":"Wang","year":"2008","journal-title":"Curr Treat Opt Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0034","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/dmcn.14027","article-title":"Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps","volume":"61","author":"Gidaro","year":"2019","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0035","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.nmd.2017.01.018","article-title":"Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients","volume":"27","author":"Rouault","year":"2017","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0036","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nrneurol.2018.4","article-title":"Advances in therapy for spinal muscular atrophy: promises and challenges","volume":"14","author":"Groen","year":"2018","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0037","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1212\/WNL.0000000000002445","article-title":"Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy","volume":"86","author":"Chiriboga","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2021.01.012_bib0038","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 (London, England)"},{"key":"10.1016\/j.nmd.2021.01.012_bib0039","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"},{"key":"10.1016\/j.nmd.2021.01.012_bib0040","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1474-4422(20)30037-5","article-title":"Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study","volume":"19","author":"Hagenacker","year":"2020","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0041","series-title":"Presented at the SMA Europe","article-title":"SUNFISH part 2: efficacy and safety of risdiplam (RG7916) in patients with Type 2 or non-ambulant Type 3 spinal muscular atrophy (SMA)","author":"Mercuri","year":"2020"},{"key":"10.1016\/j.nmd.2021.01.012_bib0042","doi-asserted-by":"crossref","DOI":"10.1177\/1756286418776932","article-title":"Antisense oligonucleotides in neurological disorders","volume":"11","author":"Wurster","year":"2018","journal-title":"Ther Adv Neurol Disord"},{"key":"10.1016\/j.nmd.2021.01.012_bib0043","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1212\/CPJ.0000000000000718","article-title":"A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy","volume":"9","author":"Zingariello","year":"2019","journal-title":"Neurol Clin Pract"},{"key":"10.1016\/j.nmd.2021.01.012_bib0044","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1007\/s00247-018-4206-9","article-title":"A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy","volume":"48","author":"Mousa","year":"2018","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0045","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3389\/fneur.2020.00045","article-title":"The need for SMN-independent treatments of spinal muscular atrophy (SMA) to complement SMN-enhancing drugs","volume":"11","author":"Hensel","year":"2020","journal-title":"Front Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0046","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1093\/hmg\/ddv629","article-title":"Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset","volume":"25","author":"Feng","year":"2016","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2021.01.012_bib0047","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1093\/hmg\/ddy382","article-title":"Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy","volume":"28","author":"Long","year":"2019","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2021.01.012_bib0048","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1002\/jcsm.12542","article-title":"Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy","author":"Zhou","year":"2020","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"10.1016\/j.nmd.2021.01.012_bib0049","doi-asserted-by":"crossref","first-page":"270","DOI":"10.3389\/fmed.2018.00270","article-title":"EUPATI guidance for patient involvement in medicines research and development (R&D); guidance for pharmaceutical industry-led medicines R&D","volume":"5","author":"Warner","year":"2018","journal-title":"Front Med (Lausanne)"},{"key":"10.1016\/j.nmd.2021.01.012_bib0050","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13023-019-1002-z","article-title":"The patient's view on rare disease trial design - a qualitative study","volume":"14","author":"Gaasterland","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.01.012_bib0051","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13023-019-1052-2","article-title":"Getting ready for the adult world\": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being","volume":"14","author":"Wan","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2021.01.012_bib0052","doi-asserted-by":"crossref","first-page":"631","DOI":"10.2147\/PPA.S104259","article-title":"Patient involvement in clinical research: why, when, and how","volume":"10","author":"Sacristan","year":"2016","journal-title":"Patient Prefer Adher"},{"key":"10.1016\/j.nmd.2021.01.012_bib0053","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s12883-017-0853-y","article-title":"A qualitative study of perceptions of meaningful change in spinal muscular atrophy","volume":"17","author":"McGraw","year":"2017","journal-title":"BMC Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0054","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A multi-source approach to determine SMA incidence and research ready population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0055","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","article-title":"Patterns of disease progression in type\u00a02\u00a0and 3 SMA: implications for clinical trials","volume":"26","author":"Mercuri","year":"2016","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0056","series-title":"Communication presented at American Academy of Neurology 2019 \u2013 71st Annual Meeting","article-title":"Interim report on the safety and efficacy of longer-term treatment with nusinersen in infantile-onset spinal muscular atrophy (SMA): Updated results from the SHINE study","author":"Finkel","year":"2019"},{"key":"10.1016\/j.nmd.2021.01.012_bib0057","first-page":"512","article-title":"Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4","volume":"25","author":"Wadman","year":"2018","journal-title":"Eur J Neurol Off J Eur Fed Neurol Soc"},{"key":"10.1016\/j.nmd.2021.01.012_bib0058","unstructured":"Inc B, Landmark NURTURE study of infants with spinal muscular atrophy (sMA) treated pre-symptomatically with SPINRAZA\u24c7 (nusinersen) published in Neuromuscular Disorders. 2019."},{"key":"10.1016\/j.nmd.2021.01.012_bib0059","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.nmd.2017.05.011","article-title":"Spinal muscular atrophy: A changing phenotype beyond the clinical trials","volume":"27","author":"Tizzano","year":"2017","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2021.01.012_bib0060","doi-asserted-by":"crossref","first-page":"254","DOI":"10.25122\/jml-2018-0064","article-title":"Lorin purcarea V. The influence of digital media on the success of a health care unit","volume":"11","author":"Radu","year":"2018","journal-title":"J Med Life"},{"key":"10.1016\/j.nmd.2021.01.012_bib0061","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/gt.2017.32","article-title":"New treatments for serious conditions: ethical implications","volume":"24","author":"King","year":"2017","journal-title":"Gene Ther"},{"key":"10.1016\/j.nmd.2021.01.012_bib0062","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"},{"key":"10.1016\/j.nmd.2021.01.012_bib0063","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/j.1365-2648.2010.05459.x","article-title":"Living with advanced Parkinson's disease: a constant struggle with unpredictability","volume":"67","author":"Haahr","year":"2011","journal-title":"J Adv Nurs"},{"key":"10.1016\/j.nmd.2021.01.012_bib0064","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/nhs.12332","article-title":"Uncertainty and depression in people with Parkinson's disease: a cross-sectional study","volume":"19","author":"Ahn","year":"2017","journal-title":"Nurs Health Sci"},{"key":"10.1016\/j.nmd.2021.01.012_bib0065","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1111\/cge.13528","article-title":"Uncertainty, hope, and coping efficacy among mothers of children with Duchenne\/Becker muscular dystrophy","volume":"95","author":"Bell","year":"2019","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2021.01.012_bib0066","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1080\/09638288.2017.1387295","article-title":"Characteristics and correlates of coping with multiple sclerosis: a systematic review","volume":"41","author":"Keramat Kar","year":"2019","journal-title":"Disabil Rehabil"},{"key":"10.1016\/j.nmd.2021.01.012_bib0067","doi-asserted-by":"crossref","first-page":"897","DOI":"10.3109\/09638288.2016.1170212","article-title":"Difficulties in adjustment to multiple sclerosis: vulnerability and unpredictability of illness in the foreground","volume":"39","author":"Giovannetti","year":"2017","journal-title":"Disabil Rehabil"},{"key":"10.1016\/j.nmd.2021.01.012_bib0068","unstructured":"NICE. NICE would welcome further discussions about access to spinal muscular atrophy drug nusinersen. 2018 [cited 2020 29 June]; Available from: https:\/\/www.nice.org.uk\/news\/article\/nice-would-welcome-further-discussions-about-access-to-spinal-muscular-atrophy-drug-nusinersen."},{"key":"10.1016\/j.nmd.2021.01.012_bib0069","article-title":"A comparative study of orphan drug prices in Europe","volume":"5","author":"Young","year":"2017","journal-title":"J Mark Access Health Policy"},{"key":"10.1016\/j.nmd.2021.01.012_bib0070","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.healthpol.2017.12.010","article-title":"The role of the 2011 Patients' rights in cross-border health care directive in shaping seven national health systems: looking beyond patient mobility","volume":"122","author":"Azzopardi-Muscat","year":"2018","journal-title":"Health Policy"},{"key":"10.1016\/j.nmd.2021.01.012_bib0071","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.24864","article-title":"Emerging therapies and challenges in spinal muscular atrophy","volume":"81","author":"Farrar","year":"2017","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0072","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: going beyond the motor neuron","volume":"19","author":"Hamilton","year":"2013","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.nmd.2021.01.012_bib0073","doi-asserted-by":"crossref","first-page":"779","DOI":"10.2174\/1566524016666161128113338","article-title":"Spinal muscular atrophy: more than a disease of motor neurons?","volume":"16","author":"Nash","year":"2016","journal-title":"Curr Mol Med"},{"key":"10.1016\/j.nmd.2021.01.012_bib0074","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/nature10485","article-title":"Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model","volume":"478","author":"Hua","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2021.01.012_bib0075","doi-asserted-by":"crossref","DOI":"10.1177\/1756286418803246","article-title":"Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy","volume":"11","author":"Stolte","year":"2018","journal-title":"Ther Adv Neurol Disord"},{"key":"10.1016\/j.nmd.2021.01.012_bib0076","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s00415-018-9124-0","article-title":"Intrathecal administration of nusinersen in adolescent and adult SMA Type 2 and 3 patients","volume":"266","author":"Wurster","year":"2019","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0077","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2021.01.012_bib0078","doi-asserted-by":"crossref","unstructured":"Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, et al. Drug treatment for spinal muscular atrophy types II and III. The cochrane database of systematic reviews 2020;1:CD006282. doi:10.1002\/14651858.CD006282.pub5.","DOI":"10.1002\/14651858.CD006282.pub5"},{"key":"10.1016\/j.nmd.2021.01.012_bib0079","doi-asserted-by":"crossref","DOI":"10.1136\/medethics-2016-103970","article-title":"Empirical evidence against placebo controls","author":"Batra","year":"2017","journal-title":"J Med Ethics"},{"key":"10.1016\/j.nmd.2021.01.012_bib0080","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1080\/10543406.2020.1726371","article-title":"Innovative design and analysis for rare disease drug development","volume":"30","author":"Chow","year":"2020","journal-title":"J Biopharm Stat"},{"key":"10.1016\/j.nmd.2021.01.012_bib0081","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1001\/jama.2013.281053","article-title":"World medical association declaration of Helsinki. Ethical principles for medical research involving human subjects","volume":"310","author":"World Medical","year":"2013","journal-title":"JAMA"},{"key":"10.1016\/j.nmd.2021.01.012_bib0082","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.euroneuro.2019.12.117","article-title":"Placebo-to be or not to be? Are there really alternatives to placebo-controlled trials?","volume":"32","author":"Krol","year":"2020","journal-title":"Eur Neuropsychopharmacol"},{"key":"10.1016\/j.nmd.2021.01.012_bib0083","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1080\/10543406.2019.1657137","article-title":"Demonstrating effectiveness or demonstrating not ineffectiveness - A potential solution for rare disease drug product development?","volume":"29","author":"Chow","year":"2019","journal-title":"J Biopharm Stat"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896621000286?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896621000286?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:10:25Z","timestamp":1760775025000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896621000286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":83,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["S0960896621000286"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2021.01.012","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2021.01.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 SMA Europe e.V. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}