{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T07:55:54Z","timestamp":1770191754587,"version":"3.49.0"},"reference-count":12,"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":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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.2021.02.004","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T19:37:16Z","timestamp":1612899436000},"page":"462-465","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype"],"prefix":"10.1016","volume":"31","author":[{"given":"Christian","family":"Pe\u00f1a-Padilla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iv\u00f3n","family":"Romero-Valenzuela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra","family":"Baldomero-L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Karen","family":"Sandoval-Talamantes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abril","family":"Castellanos-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter L.","family":"Nagy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca R.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Rom\u00e1n","family":"Corona-Rivera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2021.02.004_bib0001","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1038\/ejhg.2012.301","article-title":"Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK)","volume":"21","author":"Moat","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.004_bib0002","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1111\/jpc.12868","article-title":"Duchenne muscular dystrophy","volume":"51","author":"Yiu","year":"2015","journal-title":"J Paediatr Child Health"},{"key":"10.1016\/j.nmd.2021.02.004_bib0003","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/s40261-017-0595-z","article-title":"West syndrome: a review and guide for paediatricians","volume":"38","author":"D'Alonzo","year":"2018","journal-title":"Clin Drug Investig"},{"key":"10.1016\/j.nmd.2021.02.004_bib0004","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1111\/j.1528-1167.2010.02695.x","article-title":"The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification","volume":"51","author":"Osborne","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.nmd.2021.02.004_bib0005","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1093\/brain\/awf012","article-title":"Brain function in Duchenne muscular dystrophy","volume":"125","author":"Anderson","year":"2002","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2021.02.004_bib0006","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":"10.1016\/j.nmd.2021.02.004_bib0007","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.nmd.2013.01.011","article-title":"Duchenne muscular dystrophy and epilepsy","volume":"23","author":"Pane","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.02.004_bib0008","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":"10.1016\/j.nmd.2021.02.004_bib0009","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/sj.ejhg.5200488","article-title":"Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening","volume":"8","author":"Moizard","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.004_bib0010","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/j.nmd.2017.07.008","article-title":"DMD and west syndrome","volume":"27","author":"Cardas","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.02.004_bib0011","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":"10.1016\/j.nmd.2021.02.004_bib0012","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"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662100033X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662100033X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:11:01Z","timestamp":1760775061000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089662100033X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["S096089662100033X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2021.02.004","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":"Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2021.02.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}