{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:01:45Z","timestamp":1790816505550,"version":"4.1.0"},"reference-count":56,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T00:00:00Z","timestamp":1693267200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004423","name":"World Health Organization","doi-asserted-by":"publisher","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}],"id":[{"id":"10.13039\/100004423","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Sri Jayewardenepura","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}]},{"name":"University of Sri Jayewardenepura","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}]},{"name":"University of Sri Jayewardenepura","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}]},{"name":"University of Sri Jayewardenepura","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}]},{"name":"University of Sri Jayewardenepura","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}]},{"name":"University of Sri Jayewardenepura","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}]},{"name":"University of Sri Jayewardenepura","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}]},{"name":"University of Sri Jayewardenepura","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}]},{"name":"University of Sri Jayewardenepura","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}]},{"name":"University of Sri Jayewardenepura","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}]},{"name":"Ministry of Primary Industries","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}]},{"name":"Ministry of Primary Industries","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}]},{"name":"Ministry of Primary Industries","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}]},{"name":"Ministry of Primary Industries","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}]},{"name":"Ministry of Primary Industries","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}]},{"name":"Ministry of Primary Industries","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}]},{"name":"Ministry of Primary Industries","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}]},{"name":"Ministry of Primary Industries","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}]},{"name":"Ministry of Primary Industries","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}]},{"name":"Ministry of Primary Industries","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}]},{"name":"General Sir John Kotelawala Defence University","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}]},{"name":"General Sir John Kotelawala Defence University","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}]},{"name":"General Sir John Kotelawala Defence University","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}]},{"name":"General Sir John Kotelawala Defence University","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}]},{"name":"General Sir John Kotelawala Defence University","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}]},{"name":"General Sir John Kotelawala Defence University","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}]},{"name":"General Sir John Kotelawala Defence University","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}]},{"name":"General Sir John Kotelawala Defence University","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}]},{"name":"General Sir John Kotelawala Defence University","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}]},{"name":"General Sir John Kotelawala Defence University","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}]},{"name":"National Institutes of Health","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}]},{"name":"National Institutes of Health","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}]},{"name":"National Institutes of Health","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}]},{"name":"National Institutes of Health","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}]},{"name":"National Institutes of Health","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}]},{"name":"National Institutes of Health","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}]},{"name":"National Institutes of Health","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}]},{"name":"National Institutes of Health","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}]},{"name":"National Institutes of Health","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}]},{"name":"National Institutes of Health","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["FMS\/7090\/2010"],"award-info":[{"award-number":["FMS\/7090\/2010"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["2010\/81594-0"],"award-info":[{"award-number":["2010\/81594-0"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["WCUP\/Ph.D.\/19\/2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19\/2013"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["WCUP\/Ph.D.\/19B 2013"],"award-info":[{"award-number":["WCUP\/Ph.D.\/19B 2013"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["ASP\/06\/RE\/2010\/07"],"award-info":[{"award-number":["ASP\/06\/RE\/2010\/07"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["ASP\/06\/RE\/2012\/18"],"award-info":[{"award-number":["ASP\/06\/RE\/2012\/18"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["ASP\/06\/RE\/2013\/28"],"award-info":[{"award-number":["ASP\/06\/RE\/2013\/28"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["SP\/CIN\/2016\/02"],"award-info":[{"award-number":["SP\/CIN\/2016\/02"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["KDU\/RG\/2021\/CARE\/005"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/005"]}]},{"name":"IBRO-APRC and the International Society for Neurochemistry (ISN)","award":["KDU\/RG\/2021\/CARE\/006"],"award-info":[{"award-number":["KDU\/RG\/2021\/CARE\/006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Brain function and its effect on motor performance in Duchenne muscular dystrophy (DMD) is an emerging concept. The present study explored how cumulative dystrophin isoform loss, age, and a corticosteroid treatment affect DMD motor outcomes. A total of 133 genetically confirmed DMD patients from Sri Lanka were divided into two groups based on whether their shorter dystrophin isoforms (Dp140, Dp116, and Dp71) were affected: Group 1, containing patients with Dp140, Dp116, and Dp71 affected (n = 98), and Group 2, containing unaffected patients (n = 35). A subset of 52 patients (Group 1, n = 38; Group 2, n = 14) was followed for up to three follow-ups performed in an average of 28-month intervals. The effect of the cumulative loss of shorter dystrophin isoforms on the natural history of DMD was analyzed. A total of 74\/133 (56%) patients encountered developmental delays, with 66\/74 (89%) being in Group 1 and 8\/74 (11%) being in Group 2 (p &lt; 0.001). Motor developmental delays were predominant. The hip and knee muscular strength, according to the Medical Research Council (MRC) scale and the North Star Ambulatory Assessment (NSAA) activities, \u201cstanding on one leg R\u201d, \u201cstanding on one leg L\u201d, and \u201cwalk\u201d, declined rapidly in Group 1 (p &lt; 0.001 In the follow-up analysis, Group 1 patients became wheelchair-bound at a younger age than those of Group 2 (p = 0.004). DMD motor dysfunction is linked to DMD mutations that affect shorter dystrophin isoforms. When stratifying individuals for clinical trials, considering the DMD mutation site and its impact on a shorter dystrophin isoform is crucial.<\/jats:p>","DOI":"10.3390\/jcm12175637","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T10:09:49Z","timestamp":1693390189000},"page":"5637","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3599-5357","authenticated-orcid":false,"given":"Nalaka","family":"Wijekoon","sequence":"first","affiliation":[{"name":"Interdisciplinary Center for Innovation in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda 10250, Sri Lanka"},{"name":"Department of Cellular and Translational Neuroscience, School for Mental Health and Neuroscience, Faculty of Health, Medicine & Life Sciences, Maastricht University, 6200 Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9651-7498","authenticated-orcid":false,"given":"Lakmal","family":"Gonawala","sequence":"additional","affiliation":[{"name":"Interdisciplinary Center for Innovation in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda 10250, Sri Lanka"},{"name":"Department of Cellular and Translational Neuroscience, School for Mental Health and Neuroscience, Faculty of Health, Medicine & Life Sciences, Maastricht University, 6200 Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pyara","family":"Ratnayake","sequence":"additional","affiliation":[{"name":"Lady Ridgway Children\u2019s Hospital, Colombo 00800, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhammika","family":"Amaratunga","sequence":"additional","affiliation":[{"name":"Princeton Data Analytics, Princeton, NJ 08544, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yetrib","family":"Hathout","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Pharmaceutical Sciences, Binghamton University, Binghamton, NY 13902, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandra","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, University of Houston, Houston, TX 77204, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7667-0604","authenticated-orcid":false,"given":"Harry W. M.","family":"Steinbusch","sequence":"additional","affiliation":[{"name":"Department of Cellular and Translational Neuroscience, School for Mental Health and Neuroscience, Faculty of Health, Medicine & Life Sciences, Maastricht University, 6200 Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad 500039, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Pharmaceutical Sciences, Binghamton University, Binghamton, NY 13902, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8738-9412","authenticated-orcid":false,"given":"K. Ranil D.","family":"de Silva","sequence":"additional","affiliation":[{"name":"Interdisciplinary Center for Innovation in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda 10250, Sri Lanka"},{"name":"Department of Cellular and Translational Neuroscience, School for Mental Health and Neuroscience, Faculty of Health, Medicine & Life Sciences, Maastricht University, 6200 Maastricht, The Netherlands"},{"name":"Institute for Combinatorial Advanced Research and Education (KDU-CARE), General Sir John Kotelawala Defence University, Ratmalana 10390, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s13018-022-02996-8","article-title":"Global prevalence of Duchenne and Becker muscular dystrophy: A systematic review and meta-analysis","volume":"17","author":"Salari","year":"2022","journal-title":"J. Orthop. Surg. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1002\/humu.23561","article-title":"DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype","volume":"39","author":"Wang","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_3","first-page":"135","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 Off. J. Am. Assoc. Electrodiagn. Med."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Taylor, P.J., Betts, G.A., Maroulis, S., Gilissen, C., Pedersen, R.L., Mowat, D.R., Johnston, H.M., and Buckley, M.F. (2010). Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0008803"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"12575","DOI":"10.1038\/s41598-017-12981-5","article-title":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy","volume":"7","author":"Doorenweerd","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"S89","DOI":"10.1016\/j.nmd.2021.07.158","article-title":"DMD-BRAIN: EP. 133 Expression and localization of dystrophin isoforms transcripts in human adult control brain areas","volume":"31","author":"Falzarano","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1093\/brain\/awac048","article-title":"Startle responses in Duchenne muscular dystrophy: A novel biomarker of brain dystrophin deficiency","volume":"146","author":"Maresh","year":"2023","journal-title":"Brain"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e18530","DOI":"10.1016\/j.heliyon.2023.e18530","article-title":"Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology","volume":"9","author":"Wijekoon","year":"2023","journal-title":"Heliyon"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<32::AID-AJMG6>3.0.CO;2-Y","article-title":"Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?","volume":"80","author":"Moizard","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/dmcn.12922","article-title":"Neurodevelopmental, emotional, and behavioural 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_11","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_12","doi-asserted-by":"crossref","unstructured":"Coratti, G., Lenkowicz, J., Norcia, G., Lucibello, S., Ferraroli, E., d\u2019Amico, A., Bello, L., Pegoraro, E., Messina, S., and Ricci, F. (2022). Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0271681"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.nmd.2020.05.001","article-title":"Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy-a narrative review","volume":"30","author":"Doorenweerd","year":"2020","journal-title":"Neuromuscul. Disord."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1002\/jcsm.12914","article-title":"Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy","volume":"13","author":"Chesshyre","year":"2022","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.nmd.2010.04.005","article-title":"Best practice guidelines on molecular diagnostics in Duchenne\/Becker muscular dystrophies","volume":"20","author":"Abbs","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/s41431-020-0643-7","article-title":"EMQN best practice guidelines for genetic testing in dystrophinopathies","volume":"28","author":"Fratter","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"519","DOI":"10.2174\/1389202920666191107142754","article-title":"Repurposing pathogenic variants of DMD gene and its isoforms for DMD exon skipping intervention","volume":"20","author":"Tyagi","year":"2019","journal-title":"Curr. Genom."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3988\/jcn.2017.13.1.91","article-title":"Duchenne muscular dystrophy and Becker muscular dystrophy confirmed by multiplex ligation-dependent probe amplification: Genotype-phenotype correlation in a large cohort","volume":"13","author":"Vengalil","year":"2017","journal-title":"J. Clin. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1007\/s00415-019-09380-3","article-title":"Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: A study in an Indian large single-center cohort","volume":"266","author":"Polavarapu","year":"2019","journal-title":"J. Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1089\/gtmb.2018.0262","article-title":"MLPA analyses reveal a spectrum of dystrophin gene deletions\/duplications in Pakistani patients suspected of having Duchenne\/Becker muscular dystrophy: A retrospective study","volume":"23","author":"Ansar","year":"2019","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.jpeds.2014.07.006","article-title":"Motor and cognitive delay in Duchenne muscular dystrophy: Implication for early diagnosis","volume":"165","author":"Mirski","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.nmd.2013.04.005","article-title":"Motor and Cognitive Assessment of Infants and Young Boys with Duchenne Muscular Dystrophy; Results from the Muscular Dystrophy Association DMD Clinical Research Center Network (P04. 084)","volume":"23","author":"Connolly","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"ref_23","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_24","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.ejpn.2004.01.009","article-title":"Developmental progress in Duchenne muscular dystrophy: Lessons for earlier detection","volume":"8","author":"Parsons","year":"2004","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1111\/dmcn.14623","article-title":"Early developmental milestones in Duchenne muscular dystrophy","volume":"62","author":"Verkerk","year":"2020","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.pediatrneurol.2020.08.013","article-title":"Natural history of steroid-treated young boys with Duchenne muscular dystrophy using the NSAA, 100m, and timed functional tests","volume":"113","author":"Miller","year":"2020","journal-title":"Pediatr. Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.nmd.2019.09.010","article-title":"Longitudinal natural history in young boys with Duchenne muscular dystrophy","volume":"29","author":"Coratti","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/j.pediatrneurol.2014.02.006","article-title":"One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development","volume":"50","author":"Connolly","year":"2014","journal-title":"Pediatr. Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.nmd.2013.02.012","article-title":"Early neurodevelopmental assessment in Duchenne muscular dystrophy","volume":"23","author":"Pane","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1177\/0972753120950069","article-title":"What we fail to see in neuro-genetic diseases: A bird\u2019s eye view from the developing world","volume":"27","author":"Samaranayake","year":"2020","journal-title":"Ann. Neurosci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/mus.26720","article-title":"Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors","volume":"61","author":"Counterman","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.jpeds.2009.02.007","article-title":"Delayed diagnosis in duchenne muscular dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)","volume":"155","author":"Ciafaloni","year":"2009","journal-title":"J. Pediatr."},{"key":"ref_33","unstructured":"Darras, B., Korf, B., and Urion, D. (2000). Gene Reviews, University of Washington."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"303","DOI":"10.4103\/0972-2327.138508","article-title":"Duchenne\/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India","volume":"17","author":"Rao","year":"2014","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Zamani, G., Hosseinpour, S., Ashrafi, M.R., Mohammadi, M., Badv, R.S., Tavasoli, A.R., Akbari, M.G., Bereshneh, A.H., Malamiri, R.A., and Heidari, M. (2022). Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy. BMC Neurol., 22.","DOI":"10.1186\/s12883-022-02687-1"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1020059","DOI":"10.3389\/fped.2022.1020059","article-title":"Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia","volume":"10","author":"AlSaman","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"99","DOI":"10.3233\/JND-140005","article-title":"Forty-five years of Duchenne muscular dystrophy in the Netherlands","volume":"1","author":"Ginjaar","year":"2014","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Muntoni, F., Domingos, J., Manzur, A.Y., Mayhew, A., Guglieri, M., Network, U.N., Sajeev, G., Signorovitch, J., and Ward, S.J. (2019). Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0221097"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1186\/s13023-021-01837-x","article-title":"Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy","volume":"16","author":"Zhang","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1212\/WNL.0000000000002891","article-title":"DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study","volume":"87","author":"Bello","year":"2016","journal-title":"Neurology"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2217\/nmt-2019-0002","article-title":"Current management of Duchenne muscular dystrophy in the Middle East: Expert report","volume":"9","author":"Jumah","year":"2019","journal-title":"Neurodegener. Dis. Manag."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.tics.2017.02.005","article-title":"The cerebellum: Adaptive prediction for movement and cognition","volume":"21","author":"Sokolov","year":"2017","journal-title":"Trends Cogn. Sci."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.nic.2016.03.003","article-title":"The role of the pediatric cerebellum in motor functions, cognition, and behavior: A clinical perspective","volume":"26","author":"Salman","year":"2016","journal-title":"Neuroimaging Clin."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/1467-8624.00117","article-title":"Close interrelation of motor development and cognitive development and of the cerebellum and prefrontal cortex","volume":"71","author":"Diamond","year":"2000","journal-title":"Child Dev."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3779","DOI":"10.1093\/hmg\/ddp320","article-title":"Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression","volume":"18","author":"Daoud","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Kawaguchi, T., Niba, E.T.E., Rani, A.Q.M., Onishi, Y., Koizumi, M., Awano, H., Matsumoto, M., Nagai, M., Yoshida, S., and Sakakibara, S. (2018). Detection of dystrophin Dp71 in human skeletal muscle using an automated capillary western assay system. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19061546"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1007\/s12035-019-01845-w","article-title":"Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy","volume":"57","author":"Naidoo","year":"2020","journal-title":"Mol. Neurobiol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e75521","DOI":"10.7554\/eLife.75521","article-title":"Loss of full-length dystrophin expression results in major cell-autonomous abnormalities in proliferating myoblasts","volume":"11","author":"Gosselin","year":"2022","journal-title":"eLife"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"17123","DOI":"10.1038\/s41598-020-74157-y","article-title":"Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells","volume":"10","author":"Farea","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"877612","DOI":"10.3389\/fcell.2022.877612","article-title":"Human Dystrophin Dp71ab Enhances the Proliferation of Myoblasts Across Species But Not Human Nonmyoblast Cells","volume":"10","author":"Farea","year":"2022","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1111\/dmcn.15176","article-title":"Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy","volume":"64","author":"Zambon","year":"2022","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.nmd.2004.05.001","article-title":"Deflazacort in Duchenne muscular dystrophy: A comparison of two different protocols","volume":"14","author":"Biggar","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.braindev.2019.12.005","article-title":"Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania","volume":"42","author":"Takeuchi","year":"2020","journal-title":"Brain Dev."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S1474-4422(18)30026-7","article-title":"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_56","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ibneur.2023.01.009","article-title":"Gene Therapy for selected Neuromuscular and Trinucleotide Repeat Disorders-An Insight to Subsume South Asia for Multicenter Clinical Trials","volume":"14","author":"Wijekoon","year":"2023","journal-title":"IBRO Neurosci. Rep."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/17\/5637\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:42:11Z","timestamp":1760128931000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/17\/5637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,29]]},"references-count":56,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["jcm12175637"],"URL":"https:\/\/doi.org\/10.3390\/jcm12175637","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,29]]}}}