{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T01:03:47Z","timestamp":1780535027812,"version":"3.54.1"},"reference-count":68,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,9,11]],"date-time":"2020-09-11T00:00:00Z","timestamp":1599782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objective: The developmental maturation of forward and backward digit spans\u2014indices of working memory\u2014in boys with nonsense (nm) Duchenne muscular dystrophy (DMD) (nmDMD) was assessed using prospective, longitudinal data. Methods: Fifty-five boys of the 57 subjects with genetically confirmed nmDMD\u2014who were from the placebo arm of a 48-week-long phase 2b clinical trial\u2014were evaluated. Forward and backward digit spans were obtained every 12 weeks for a total of five assessments in all study subjects. Changes in forward and backward digit spans were evaluated based on age, corticosteroid treatment, and DMD mutation location. Results: Boys with nmDMD had lower mean scores on normalized forward digit span. Normalized forward digit spans were comparable between subjects stratified by age and between corticosteroid-na\u00efve and corticosteroid-treated subjects. When stratified by DMD mutation location, normalized forward digit spans were lower in nmDMD subjects with mutations downstream of DMD exon 30, exon 45, and exon 63, both at baseline evaluation and at follow-up evaluation at 48 weeks. On average, normalized backward digit span scores were stable over 48 weeks in these subjects. Developmental growth modeling showed that subjects with nmDMD mutations upstream of DMD exon 30, upstream of DMD exon 45, and upstream of DMD exon 63 appeared to make better gains in working memory than subjects with mutations downstream of DMD exon 30, downstream of DMD exon 45, and downstream of DMD exon 63. Conclusion: Performance in working memory shows deficits in nmDMD and differed based on nmDMD location. Maturation in cognition was seen over a 48-week period. The developmental trajectory of working memory in this cohort was influenced by DMD mutation location.<\/jats:p>","DOI":"10.3390\/jcm9092940","type":"journal-article","created":{"date-parts":[[2020,9,11]],"date-time":"2020-09-11T09:05:16Z","timestamp":1599815116000},"page":"2940","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Longitudinal Evaluation of Working Memory in Duchenne Muscular Dystrophy"],"prefix":"10.3390","volume":"9","author":[{"given":"Mathula","family":"Thangarajh","sequence":"first","affiliation":[{"name":"Department of Neurology, Virginia Commonwealth University, 1101 East Marshall Street, P.O. Box 980599, Richmond, VA 23298, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary L.","family":"Elfring","sequence":"additional","affiliation":[{"name":"PTC Therapeutics Inc., South Plainfield, NJ 07080, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panayiota","family":"Trifillis","sequence":"additional","affiliation":[{"name":"PTC Therapeutics Inc., South Plainfield, NJ 07080, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,11]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., and Ardinger, H.H. (2000). Dystrophinopathies. GeneReviews, University of Washington."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S1474-4422(18)30026-7","article-title":"DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","article-title":"Dystrophin: The protein product of the duchenne muscular dystrophy locus","volume":"51","author":"Hoffman","year":"1987","journal-title":"Cell"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: One gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/hmg\/4.3.329","article-title":"Dp140: A novel 140 kDa CNS transcript from the dystrophin locus","volume":"4","author":"Lidov","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/338509a0","article-title":"Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus","volume":"338","author":"Feener","year":"1989","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1083\/jcb.147.3.645","article-title":"Different dystrophin-like complexes are expressed in neurons and glia","volume":"147","author":"Blake","year":"1999","journal-title":"J. Cell Biol."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Aranmolate, A., Tse, N., and Colognato, H. (2017). Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy. BMC Neurosci., 18.","DOI":"10.1186\/s12868-017-0381-0"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/ana.410380315","article-title":"Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy","volume":"38","author":"Kim","year":"1995","journal-title":"Ann. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1111\/j.1471-4159.2011.07600.x","article-title":"Dystroglycan promotes filopodial formation and process branching in differentiating oligodendroglia","volume":"120","author":"Eyermann","year":"2012","journal-title":"J. Neurochem."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3295","DOI":"10.1002\/jnr.22484","article-title":"Dystroglycan modulates the ability of insulin-like growth factor-1 to promote oligodendrocyte differentiation","volume":"88","author":"Galvin","year":"2010","journal-title":"J. Neurosci. Res."},{"key":"ref_12","first-page":"71","article-title":"Oligodendrocyte, Astrocyte, and Microglia Crosstalk in Myelin Development, Damage, and Repair","volume":"4","author":"Domingues","year":"2016","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1083\/jcb.122.4.809","article-title":"A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin","volume":"122","author":"Ervasti","year":"1993","journal-title":"J. Cell Biol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1083\/jcb.150.5.1209","article-title":"The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin","volume":"150","author":"Rybakova","year":"2000","journal-title":"J. Cell Biol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0955-0674(05)80012-2","article-title":"Dystrophin and the membrane skeleton","volume":"5","author":"Ervasti","year":"1993","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.nmd.2013.04.005","article-title":"MDA DMD Clinical Research Network. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: Results from the Muscular Dystrophy Association DMD Clinical Research Network","volume":"23","author":"Connolly","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"275","DOI":"10.3390\/brainsci5030275","article-title":"Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains","volume":"5","author":"Nichols","year":"2015","journal-title":"Brain Sci."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Chieffo, D., Brogna, C., Berardinelli, A., D\u2019Angelo, G., Mallardi, M., D\u2019Amico, A., Alfieri, P., Mercuri, E., and Pane, M. (2015). Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0133214"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/dmcn.12922","article-title":"Neurodevelopmental, emotional, and behavioral problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations","volume":"58","author":"Ricotti","year":"2016","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1177\/08830738050200100201","article-title":"Association of Duchenne muscular dystrophy with autism spectrum disorder","volume":"20","author":"Wu","year":"2005","journal-title":"J. Child Neurol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1177\/0883073807309775","article-title":"Neuropsychiatric disorders in males with duchenne muscular dystrophy: Frequency rate of attention-deficient hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder","volume":"23","author":"Hendriksen","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1017\/S0012162205000496","article-title":"Association between intellectual functioning and age in children and young adults with Duchenne muscular dystrophy: Further results from a meta-analysis","volume":"47","author":"Cotton","year":"2005","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_23","first-page":"544","article-title":"Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy","volume":"93","author":"Ogasawara","year":"1989","journal-title":"Am. J. Ment. Retard."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0960-8966(06)80008-8","article-title":"Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy","volume":"2","author":"Billard","year":"1992","journal-title":"Neuromuscul. Disord."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ana.24222","article-title":"Reduced cerebral grey matter and altered white matter in boys with Duchenne muscular dystrophy","volume":"76","author":"Doorenweerd","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1212\/WNL.55.4.559","article-title":"Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy","volume":"55","author":"Felisari","year":"2000","journal-title":"Neurology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1111\/j.1469-8749.1988.tb14556.x","article-title":"Language and learning disorders of older boys with Duchenne muscular dystrophy","volume":"30","author":"Dorman","year":"1988","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jocn.2010.07.118","article-title":"Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy","volume":"18","author":"Wingeier","year":"2011","journal-title":"J. Clin. Neurosci."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1017\/S135561770808106X","article-title":"Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)","volume":"14","author":"Cyrulnik","year":"2008","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1017\/S1355617701711058","article-title":"Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy","volume":"7","author":"Hinton","year":"2001","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.jpeds.2006.12.045","article-title":"Delayed developmental language milestones in children with Duchenne\u2019s muscular dystrophy","volume":"150","author":"Cyrulnik","year":"2007","journal-title":"J. Pediatr."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1212\/WNL.54.11.2127","article-title":"Poor verbal working memory across intellectual level in boys with Duchenne dystrophy","volume":"54","author":"Hinton","year":"2000","journal-title":"Neurology"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1017\/S1355617716000461","article-title":"Digit Span Performance in Children with Dystrophinopathy: A Verbal Span or Working Memory Contribution?","volume":"22","author":"Leaffer","year":"2016","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e1215","DOI":"10.1212\/WNL.0000000000006245","article-title":"The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy","volume":"91","author":"Thangarajh","year":"2018","journal-title":"Neurology"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1002\/pon.3222","article-title":"Working memory training in survivors of pediatric cancer: A randomized pilot study","volume":"22","author":"Hardy","year":"2013","journal-title":"Psychooncology"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1200\/JCO.2015.61.6672","article-title":"Computerized Cognitive Training for Amelioration of Cognitive Late Effects among Childhood Cancer Survivors: A Randomized Controlled Trial","volume":"33","author":"Conklin","year":"2015","journal-title":"J. Clin. Oncol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1111\/epi.13195","article-title":"Near-transfer effects following working memory intervention (Cogmed) in children with symptomatic epilepsy: An open randomized clinical trial","volume":"56","author":"Kerr","year":"2015","journal-title":"Epilepsia"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/mus.24332","article-title":"Ataluren treatment of patients with nonsense mutation dystrophinopathy","volume":"50","author":"Bushby","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_39","unstructured":"Weschler, D. (2003). Weschler Intelligence Scale for Children, The Psychological Corporation. [4th ed.]."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Fokkema","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Juan-Mateu, J., Gonz\u00e1lez-Quereda, L., Rodr\u00edguez, M.J., Verdura, E., L\u00e1zaro, K., Jou, C., Nascimento, A., Jim\u00e9nez-Mallebrera, C., Colomer, J., and Monges, S. (2013). Interplay between DMD point mutations and splicing signals in Dystrophinpathy phenotypes. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0059916"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1080\/15374418109533032","article-title":"Digits forward and digits backward as two separate tests: Normative data on 1567 school children","volume":"10","author":"Gardner","year":"1981","journal-title":"J. Clin. Child Psychol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1515\/revneuro-2017-0073","article-title":"The neurophysiology of working memory development: From childhood to adolescence and young adulthood","volume":"29","author":"Arjona","year":"2018","journal-title":"Rev. Neurosci."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"9315","DOI":"10.1073\/pnas.0510088103","article-title":"Neurocognitive development of the ability to manipulate information in working memory","volume":"103","author":"Crone","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Kolsk\u00e5r, K.K., Aln\u00e6s, D., Kaufmann, T., Richard, G., Sanders, A.M., Ulrichsen, K.M., Moberget, T., Andreassen, O.A., Nordvik, J.E., and Westlye, L.T. (2018). Key Brain Network Nodes Show Differential Cognitive Relevance and Developmental Trajectories during Childhood and Adolescence. eNeuro, 5.","DOI":"10.1523\/ENEURO.0092-18.2018"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1467-7687.2005.00454.x","article-title":"A shift from diffuse to focal cortical activity with development","volume":"9","author":"Durston","year":"2006","journal-title":"Dev. Sci."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1076\/jcen.20.3.339.822","article-title":"Practice effects during repeated administrations of memory tests with and without alternate forms","volume":"20","author":"Benedict","year":"1998","journal-title":"J. Clin. Exp. Neuropsychol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1017\/S1355617700644053","article-title":"Improvement or simply practice? The effects of twenty repeated assessments on people with and without brain injury","volume":"6","author":"Wilson","year":"2000","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_49","unstructured":"Lezak, M.D., Howieson, D.B., and Loring, D.W. (1995). Neuropsychological Assessment, Oxford University Press. [3rd ed.]."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1037\/a0012950","article-title":"The serial use of child neurocognitive tests: Development versus practice effects","volume":"20","author":"Slade","year":"2008","journal-title":"Psychol. Assess."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1080\/13854048908401484","article-title":"Reliability of tests and measures used in the neuropsychological assessment of children","volume":"3","author":"Brown","year":"1989","journal-title":"Clin. Neuropsychol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1017\/S1355617799544056","article-title":"Test-retest reliability and practice effects of expanded Halstead-Reitan Neuropsychological Test Battery","volume":"5","author":"Dikmen","year":"1999","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.ejpn.2020.01.002","article-title":"Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy","volume":"25","author":"Hellebrekers","year":"2020","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/pbc.26019","article-title":"Feasibility of Home-Based Computerized Working Memory Training with Children and Adolescents with Sickle Cell Disease","volume":"63","author":"Hardy","year":"2016","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_55","first-page":"220","article-title":"Long-Term Efficacy of Computerized Cognitive Training among Survivors of Childhood Cancer: A Single-Blind Randomized Control Trial","volume":"42","author":"Conklin","year":"2017","journal-title":"J. Pediatr. Psychol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.yebeh.2016.12.016","article-title":"Maintenance effects of working memory intervention (Cogmed) in children with symptomatic epilepsy","volume":"67","author":"Fuentes","year":"2017","journal-title":"Epilepsy Behav."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1007\/s00787-015-0804-3","article-title":"Long-term far-transfer effects of working memory training in children with ADHD: A randomized controlled trial","volume":"25","author":"Bigorra","year":"2016","journal-title":"Eur. Child Adolesc. Psychiatry"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/acp.934","article-title":"Working memory skills and educational attainment: Evidence from national curriculum assessments at 7 and 14 years of age","volume":"18","author":"Gathercole","year":"2003","journal-title":"Appl. Cogn. Psychol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.jecp.2009.11.003","article-title":"Investigating the predictive roles of working memory and IQ in academic attainment","volume":"106","author":"Alloway","year":"2010","journal-title":"J. Exp. Child Psychol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1515\/ppb-2016-0011","article-title":"Three functional aspects of working memory as strong predictors of early school achievements: The review and illustrative evidence","volume":"47","author":"Sedek","year":"2016","journal-title":"Pol. Psychol. Bull."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1111\/j.1540-5826.2004.00098.x","article-title":"Investigation of Poor Academic Achievement in Children with Duchenne Muscular Dystrophy","volume":"19","author":"Hinton","year":"2004","journal-title":"Learn. Disabil. Res. Pract."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"386","DOI":"10.3389\/fnins.2016.00386","article-title":"A Bidirectional Relationship between Executive Function and Health Behavior: Evidence, Implications, and Future Directions","volume":"10","author":"Allan","year":"2016","journal-title":"Front. Neurosci."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1037\/0278-7393.29.2.298","article-title":"Impulsive decision making and working memory","volume":"29","author":"Hinson","year":"2003","journal-title":"J. Exp. Psychol. Learn. Mem. Cogn."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.biopsych.2010.08.017","article-title":"Remember the future: Working memory training decreases delay discounting among stimulant addicts","volume":"69","author":"Bickel","year":"2011","journal-title":"Biol. Psychiatry"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.nmd.2016.11.012","article-title":"Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan","volume":"27","author":"Saito","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.rehab.2013.06.002","article-title":"Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011","volume":"56","author":"Kieny","year":"2013","journal-title":"Ann. Phys. Rehabil. Med."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Baker, M., Griggs, R., Bryne, B., Connolly, A.M., Finkel, R., Grajkowska, L., Haidet-Phillips, A., Hagerty, L., Ostrander, R., and Orlando, L. (2019). Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps. JAMA Neurol.","DOI":"10.1001\/jamaneurol.2019.1206"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1002\/acn3.50867","article-title":"The NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy","volume":"6","author":"Thangarajh","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/9\/2940\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:09:14Z","timestamp":1760177354000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/9\/2940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,11]]},"references-count":68,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2020,9]]}},"alternative-id":["jcm9092940"],"URL":"https:\/\/doi.org\/10.3390\/jcm9092940","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,11]]}}}