{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T19:03:39Z","timestamp":1793387019492,"version":"4.5.0"},"reference-count":65,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T00:00:00Z","timestamp":1672358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","pediatr-neonatol.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics &amp; Neonatology"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1016\/j.pedneo.2022.09.016","type":"journal-article","created":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T11:57:06Z","timestamp":1672747026000},"page":"109-118","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7282-6018","authenticated-orcid":false,"given":"Melissa","family":"Borrelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Terrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Evangelisti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Fedele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Corcione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9375-7429","authenticated-orcid":false,"given":"Francesca","family":"Santamaria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pedneo.2022.09.016_bib1","doi-asserted-by":"crossref","first-page":"826","DOI":"10.4187\/respcare.05250","article-title":"Respiratory implications of pediatric neuromuscular disease","volume":"62","author":"Panitch","year":"2017","journal-title":"Respir Care"},{"key":"10.1016\/j.pedneo.2022.09.016_bib2","doi-asserted-by":"crossref","first-page":"2734054","DOI":"10.1155\/2019\/2734054","article-title":"Respiratory involvement in patients with neuromuscular diseases: a narrative review","volume":"2019","author":"Voulgaris","year":"2019","journal-title":"Pulm Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib3","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ccm.2018.01.009","article-title":"Sleep-disordered breathing in neuromuscular and chest wall diseases","volume":"39","author":"Hilbert","year":"2018","journal-title":"Clin Chest Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib4","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1159\/000072896","article-title":"Polysomnography in chronic neuromuscular disease","volume":"70","author":"Weinberg","year":"2003","journal-title":"Respiration"},{"key":"10.1016\/j.pedneo.2022.09.016_bib5","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/adc.46.249.623","article-title":"Effect of scoliosis on growth of alveoli and pulmonary arteries and on right ventricle","volume":"46","author":"Davies","year":"1971","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.pedneo.2022.09.016_bib6","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1164\/rccm.201412-2224CI","article-title":"Sleep-disordered breathing in neuromuscular disease","volume":"191","author":"Aboussouan","year":"2015","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib7","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.pcl.2020.09.006","article-title":"Respiratory complications of pediatric neuromuscular diseases","volume":"68","author":"Bach","year":"2021","journal-title":"Pediatr Clin North Am"},{"key":"10.1016\/j.pedneo.2022.09.016_bib8","series-title":"ERS handbook of paediatric respiratory medicine","first-page":"657","article-title":"Neuromuscular disorders","author":"Simonds","year":"2021"},{"key":"10.1016\/j.pedneo.2022.09.016_bib9","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.pedneo.2022.09.016_bib10","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"},{"key":"10.1016\/j.pedneo.2022.09.016_bib11","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1111\/jcmm.14874","article-title":"Spinal muscular atrophy with respiratory distress type 1: clinical phenotypes, molecular pathogenesis and therapeutic insights","volume":"24","author":"Saladini","year":"2020","journal-title":"J Cell Mol Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib12","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1212\/WNL.0000000000000305","article-title":"Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis","volume":"82","author":"Butterfield","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.pedneo.2022.09.016_bib13","first-page":"46","article-title":"Myotonic disorders: a review article","volume":"15","author":"Hahn","year":"2016","journal-title":"Iran J Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib14","doi-asserted-by":"crossref","first-page":"66","DOI":"10.5409\/wjcp.v4.i4.66","article-title":"Congenital and childhood myotonic dystrophy: current aspects of disease and future directions","volume":"4","author":"Ho","year":"2015","journal-title":"World J Clin Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib15","series-title":"GeneReviews\u00ae [internet]","first-page":"1993","article-title":"Congenital myasthenic syndromes overview","author":"Abicht","year":"2003"},{"key":"10.1016\/j.pedneo.2022.09.016_bib16","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1824-7288-39-9","article-title":"Hypertransaminasemia and fatal lung disease: a case report","volume":"39","author":"Santamaria","year":"2013","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib17","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1067\/mpd.2000.107112","article-title":"Identification of two subtypes of infantile acid maltase deficiency","volume":"137","author":"Slonim","year":"2000","journal-title":"J Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib18","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/ajmg.a.37007","article-title":"Longitudinal polysomnographic findings in infantile Pompe disease","volume":"167A","author":"Kansagra","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.pedneo.2022.09.016_bib19","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1212\/WNL.36.11.1465","article-title":"Fatal infantile form of muscle phosphofructokinase deficiency","volume":"36","author":"Servidei","year":"1986","journal-title":"Neurology"},{"key":"10.1016\/j.pedneo.2022.09.016_bib20","doi-asserted-by":"crossref","first-page":"3419","DOI":"10.3390\/ijms20143419","article-title":"Charcot-marie-tooth: from molecules to therapy","volume":"20","author":"Morena","year":"2019","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.pedneo.2022.09.016_bib21","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/gim.2014.177","article-title":"Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society","volume":"17","author":"Parikh","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib22","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13052-017-0419-z","article-title":"Congenital myopathies: clinical phenotypes and new diagnostic tools","volume":"43","author":"Cassandrini","year":"2017","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib23","doi-asserted-by":"crossref","first-page":"2288","DOI":"10.1002\/acn3.51218","article-title":"Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials","volume":"7","author":"Silwal","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib24","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1002\/ana.20077","article-title":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene","volume":"55","author":"Ferreiro","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib25","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2010.09.011","article-title":"New molecular findings in congenital myopathies due to selenoprotein N gene mutations","volume":"300","author":"Cagliani","year":"2011","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.pedneo.2022.09.016_bib26","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.neurol.2016.08.004","article-title":"Nemaline myopathies: state of the art","volume":"172","author":"Malfatti","year":"2016","journal-title":"Rev Neurol (Paris)"},{"key":"10.1016\/j.pedneo.2022.09.016_bib27","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.braindev.2017.04.018","article-title":"Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients","volume":"39","author":"Kaneko","year":"2017","journal-title":"Brain Dev"},{"issue":"Suppl 1","key":"10.1016\/j.pedneo.2022.09.016_bib28","doi-asserted-by":"crossref","first-page":"i1","DOI":"10.1136\/thoraxjnl-2012-201964","article-title":"British Thoracic Society guideline for respiratory management of children with neuromuscular weakness","volume":"67","author":"Hull","year":"2012","journal-title":"Thorax"},{"key":"10.1016\/j.pedneo.2022.09.016_bib29","doi-asserted-by":"crossref","first-page":"e587","DOI":"10.1212\/WNL.0000000000011051","article-title":"Respiratory trajectories in type 2 and 3 spinal muscular atrophy in the iSMAC cohort study","volume":"96","author":"Trucco","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.pedneo.2022.09.016_bib30","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.sleep.2019.03.005","article-title":"Effects of long-term non-invasive ventilation on sleep structure in children with Spinal Muscular Atrophy type 2","volume":"58","author":"Verrillo","year":"2019","journal-title":"Sleep Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib31","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.pedneo.2022.09.016_bib32","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"},{"key":"10.1016\/j.pedneo.2022.09.016_bib33","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.sleep.2019.12.004","article-title":"Polysomnography findings in pediatric spinal muscular atrophy types 1-3","volume":"68","author":"Chacko","year":"2020","journal-title":"Sleep Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib34","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management","volume":"9","author":"Bushby","year":"2010","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib35","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S1474-4422(18)30025-5","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib36","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.jpeds.2014.12.006","article-title":"Sleep disordered breathing in young boys with Duchenne muscular dystrophy","volume":"166","author":"Sawnani","year":"2015","journal-title":"J Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib37","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/mus.27011","article-title":"The CINRG becker natural history study: baseline characteristics","volume":"62","author":"Clemens","year":"2020","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.pedneo.2022.09.016_bib38","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.nmd.2006.06.007","article-title":"Sleep disorders in childhood-onset myotonic dystrophy type 1","volume":"16","author":"Quera Salva","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.pedneo.2022.09.016_bib39","first-page":"207","article-title":"LGMD. Identification, description and classification","volume":"39","author":"Angelini","year":"2020","journal-title":"Acta Myol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib40","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, The Netherlands, 17\u201319 March 2017","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.pedneo.2022.09.016_bib41","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1055\/s-0037-1601860","article-title":"Dystrophinopathies and limb-girdle muscular dystrophies","volume":"48","author":"Domingos","year":"2017","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.pedneo.2022.09.016_bib42","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/s43441-019-00038-w","article-title":"Updating the clinical picture of Facioscapulohumeral muscular dystrophy: ramifications for drug development with potential solutions","volume":"54","author":"Huml","year":"2020","journal-title":"Ther Innov Regul Sci"},{"key":"10.1016\/j.pedneo.2022.09.016_bib43","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jnnp-2013-307052","article-title":"Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)","volume":"86","author":"Yonekawa","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"23 Suppl 2","key":"10.1016\/j.pedneo.2022.09.016_bib44","first-page":"S4","article-title":"Diagnosis of glycogenosis type II","volume":"71","author":"Bembi","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.pedneo.2022.09.016_bib45","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1164\/rccm.200307-885ST","article-title":"Respiratory care of the patient with duchenne muscular dystrophy: ATS consensus statement","volume":"170","author":"Finder","year":"2004","journal-title":"Am J Respir Crit Care Med"},{"issue":"Suppl 2","key":"10.1016\/j.pedneo.2022.09.016_bib46","doi-asserted-by":"crossref","first-page":"S62","DOI":"10.1542\/peds.2018-0333H","article-title":"Respiratory management of the patient with duchenne muscular dystrophy","volume":"142","author":"Sheehan","year":"2018","journal-title":"Pediatrics"},{"key":"10.1016\/j.pedneo.2022.09.016_bib47","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet Med"},{"key":"10.1016\/j.pedneo.2022.09.016_bib48","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1177\/0883073812436605","article-title":"Consensus statement on standard of care for congenital myopathies","volume":"27","author":"Wang","year":"2012","journal-title":"J Child Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib49","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/mus.22329","article-title":"Consensus treatment recommendations for late-onset Pompe disease","volume":"45","author":"Cupler","year":"2012","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.pedneo.2022.09.016_bib50","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1097\/MOP.0000000000000498","article-title":"Respiratory complications, management and treatments for neuromuscular disease in children","volume":"29","author":"Buu","year":"2017","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib51","doi-asserted-by":"crossref","first-page":"3","DOI":"10.3345\/kjp.2019.00626","article-title":"High-flow nasal cannula oxygen therapy in children: a clinical review","volume":"63","author":"Kwon","year":"2020","journal-title":"Clin Exp Pediatr"},{"key":"10.1016\/j.pedneo.2022.09.016_bib52","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ppul.23229","article-title":"A comparison of invasive and noninvasive ventilation in children less than 1 year of age: a long-term follow-up study","volume":"51","author":"Kherani","year":"2016","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib53","first-page":"A02200100","article-title":"Nusinersen treatment of spinal muscular atrophy - a systematic review","volume":"67","author":"Albrechtsen","year":"2020","journal-title":"Dan Med J"},{"key":"10.1016\/j.pedneo.2022.09.016_bib54","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3390\/genes13020257","article-title":"Antisense and gene therapy options for duchenne muscular dystrophy Arising from mutations in the N-terminal hotspot","volume":"13","author":"Wilton-Clark","year":"2022","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.pedneo.2022.09.016_bib55","doi-asserted-by":"crossref","first-page":"3038","DOI":"10.1007\/s00415-020-09936-8","article-title":"Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start","volume":"267","author":"Stockton","year":"2020","journal-title":"J Neurol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib56","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1089\/hum.2012.250","article-title":"Phase I\/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes","volume":"24","author":"Smith","year":"2013","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.pedneo.2022.09.016_bib57","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ppul.25142","article-title":"Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen","volume":"56","author":"G\u00f3mez-Garc\u00eda de la Banda","year":"2021","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.pedneo.2022.09.016_bib58","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1007\/s12325-019-00923-8","article-title":"Survival, motor function, and motor milestones: comparison of AVXS-101 relative to nusinersen for the treatment of infants with spinal muscular atrophy type 1","volume":"36","author":"Dabbous","year":"2019","journal-title":"Adv Ther"},{"key":"10.1016\/j.pedneo.2022.09.016_bib59","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1007\/s13311-020-01004-3","article-title":"Reldesemtiv in patients with spinal muscular atrophy: a phase 2 hypothesis-generating study","volume":"18","author":"Rudnicki","year":"2021","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.pedneo.2022.09.016_bib60","doi-asserted-by":"crossref","first-page":"341","DOI":"10.2217\/cer-2019-0171","article-title":"Safety and effectiveness of ataluren: comparison of results from the STRIDE registry and CINRG DMD natural history study","volume":"9","author":"Mercuri","year":"2020","journal-title":"J Comp Eff Res"},{"key":"10.1016\/j.pedneo.2022.09.016_bib61","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.pedneo.2022.09.016_bib62","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3233\/JND-170272","article-title":"Long-term pulmonary function in duchenne muscular dystrophy: comparison of eteplirsen-treated patients to natural history","volume":"5","author":"Kinane","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.pedneo.2022.09.016_bib63","doi-asserted-by":"crossref","first-page":"989","DOI":"10.3233\/JND-210643","article-title":"Open-label evaluation of eteplirsen in patients with duchenne muscular dystrophy Amenable to exon 51 skipping: PROMOVI trial","volume":"8","author":"McDonald","year":"2021","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.pedneo.2022.09.016_bib64","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1089\/nat.2021.0043","article-title":"Long-term safety and efficacy data of golodirsen in ambulatory patients with duchenne muscular dystrophy Amenable to exon 53 skipping: a first-in-human, multicenter, two-part, open-label, phase 1\/2 trial","volume":"32","author":"Servais","year":"2022","journal-title":"Nucleic Acid Ther"},{"key":"10.1016\/j.pedneo.2022.09.016_bib65","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.pedneo.2018.09.008","article-title":"Emergency room visits and admission rates of children with neuromuscular disorders: a 10-year experience in a medical center in Taiwan","volume":"60","author":"Kao","year":"2019","journal-title":"Pediatr Neonatol"}],"container-title":["Pediatrics &amp; Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1875957222002728?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1875957222002728?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T14:56:15Z","timestamp":1761749775000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1875957222002728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":65,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["S1875957222002728"],"URL":"https:\/\/doi.org\/10.1016\/j.pedneo.2022.09.016","relation":{},"ISSN":["1875-9572"],"issn-type":[{"value":"1875-9572","type":"print"}],"subject":[],"published":{"date-parts":[[2023,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians","name":"articletitle","label":"Article Title"},{"value":"Pediatrics & Neonatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pedneo.2022.09.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Taiwan Pediatric Association. Published by Elsevier Taiwan LLC.","name":"copyright","label":"Copyright"}]}}