{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:30:00Z","timestamp":1787765400623,"version":"build-2784847793"},"reference-count":9,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2020,1]]},"DOI":"10.1016\/j.nmd.2019.11.004","type":"journal-article","created":{"date-parts":[[2019,11,14]],"date-time":"2019-11-14T03:24:12Z","timestamp":1573701852000},"page":"35-37","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype"],"prefix":"10.1016","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4558-1000","authenticated-orcid":false,"given":"Niamh","family":"Shaughnessy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva B.","family":"Forman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Declan","family":"O\u2019Rourke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.nmd.2019.11.004_bib0001","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1750-3639.2001.tb00395.x","article-title":"Spinal muscular atrophy: present state","volume":"11","author":"Schmalbruch","year":"2001","journal-title":"Brain Pathol"},{"issue":"1","key":"10.1016\/j.nmd.2019.11.004_bib0002","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ajhg.2007.09.009","article-title":"Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy","volume":"82","author":"Ramser","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.nmd.2019.11.004_bib0003","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1093\/hmg\/4.7.1213","article-title":"A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2","volume":"4","author":"Kobayashi","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.nmd.2019.11.004_bib0004","doi-asserted-by":"crossref","first-page":"e32835","DOI":"10.1371\/journal.pone.0032835","article-title":"Mutation in E1, the ubiquitin activating enzyme, reduces Drosophila lifespan and results in motor impairment","volume":"8","author":"Liu","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2019.11.004_bib0005","unstructured":"Prior TW, Finanger E.Spinal muscular atrophy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors GeneReviews((R)). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993."},{"issue":"2","key":"10.1016\/j.nmd.2019.11.004_bib0006","first-page":"217","article-title":"X-linked infantile spinal muscular atrophy","volume":"142","author":"Greenberg","year":"1988","journal-title":"Am J Dis Child"},{"issue":"8","key":"10.1016\/j.nmd.2019.11.004_bib0007","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.nmd.2015.05.001","article-title":"X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene","volume":"25","author":"Jedrzejowska","year":"2015","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2019.11.004_bib0008","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.nmd.2013.02.001","article-title":"Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene","volume":"23","author":"Dlamini","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.11.004_bib0009","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.12688\/f1000research.11878.1","article-title":"Functional characterizations of rare UBA1 variants in X-linked spinal muscular atrophy","volume":"6","author":"Balak","year":"2017","journal-title":"F1000Res"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619311733?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896619311733?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:29Z","timestamp":1760774909000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896619311733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S0960896619311733"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.11.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.11.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}