{"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":1787765400287,"version":"build-2784847793"},"reference-count":22,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004569","name":"Ministry of Science and Higher Education, Republic of Poland","doi-asserted-by":"publisher","award":["N N401 011038"],"award-info":[{"award-number":["N N401 011038"]}],"id":[{"id":"10.13039\/501100004569","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2015,8]]},"DOI":"10.1016\/j.nmd.2015.05.001","type":"journal-article","created":{"date-parts":[[2015,5,8]],"date-time":"2015-05-08T12:35:55Z","timestamp":1431088555000},"page":"661-666","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C&gt;T substitution in the UBA1 gene"],"prefix":"10.1016","volume":"25","author":[{"given":"Maria","family":"J\u0119drzejowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Jakubowska-Pietkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2015.05.001_bib0010","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"},{"key":"10.1016\/j.nmd.2015.05.001_bib0015","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1097\/GIM.0b013e31802d8353","article-title":"X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping","volume":"9","author":"Dressman","year":"2007","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2015.05.001_bib0020","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1681\/ASN.2006010083","article-title":"Protein degradation by the ubiquitin\u2013proteasome pathway in normal and disease states","volume":"17","author":"Lecker","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.nmd.2015.05.001_bib0025","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 muscualar atrophy) maps to human chromosome Xp11.2-q11.2","volume":"4","author":"Kobayashi","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2015.05.001_bib0030","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.nmd.2013.02.001","article-title":"Clinical and neurophysiological 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.2015.05.001_bib0035","first-page":"97","article-title":"Dual-energy X-ray absorptiometry studies of bone mineral status in newborn infants","volume":"11","author":"Koo","year":"1996","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.nmd.2015.05.001_bib0040","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1007\/BF02072628","article-title":"A family with severe X-linked arthrogryposis","volume":"150","author":"Hennekam","year":"1991","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nmd.2015.05.001_bib0045","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmg.28.5.345","article-title":"Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome","volume":"28","author":"Borochowitz","year":"1991","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2015.05.001_bib0050","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.pediatrneurol.2004.10.003","article-title":"Severe lethal spinal muscular atrophy variant with arthrogryposis","volume":"32","author":"Kizilates","year":"2005","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.nmd.2015.05.001_bib0055","first-page":"217","article-title":"X-linked infantile spinal muscular atrophy","volume":"142","author":"Greenberg","year":"1988","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.nmd.2015.05.001_bib0060","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00401-004-0825-3","article-title":"Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion","volume":"107","author":"Garcia-Cabezas","year":"2004","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.nmd.2015.05.001_bib0065","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/ana.1080","article-title":"Nemaline myopathy: a clinical study of 143 cases","volume":"50","author":"Ryan","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2015.05.001_bib0070","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.nmd.2006.07.018","article-title":"Severe nemlaine myopathy caused by mutations of the top codon of the skeletal muscle alpha actin gene (ACTA1)","volume":"16","author":"Wallefeld","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2015.05.001_bib0075","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.nmd.2009.05.001","article-title":"Severe nemaline myopathy associated with consecutive mutations E74D and H75 Y on a single ACTA1 allele","volume":"19","author":"Garcia-Angarita","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2015.05.001_bib0080","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1097\/BPO.0b013e31802b6c73","article-title":"Orthopaedic complications of myotubular myopathy","volume":"27","author":"Cahill","year":"2007","journal-title":"J Pediatr Orthop"},{"key":"10.1016\/j.nmd.2015.05.001_bib0085","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1097\/01241398-200001000-00016","article-title":"Bone mineral density and fractures in boys with Duchenne muscular dystrophy","volume":"20","author":"Larson","year":"2000","journal-title":"J Pediatr Orthop"},{"key":"10.1016\/j.nmd.2015.05.001_bib0090","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1097\/01.bpo.0000235228.45539.c7","article-title":"Fractures in children with cerebral palsy","volume":"26","author":"Leet","year":"2006","journal-title":"J Pediatr Orthop"},{"key":"10.1016\/j.nmd.2015.05.001_bib0095","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1152\/physrev.00014.2014","article-title":"Bone development and mineral homeostasis in the fetus and neonate: roles of the calciotropic and phosphor tropic hormones","volume":"94","author":"Kovacs","year":"2014","journal-title":"Physiol Rev"},{"key":"10.1016\/j.nmd.2015.05.001_bib0100","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.nmd.2009.06.366","article-title":"Nemaline (actin) myopathy with myofibrillar and abnormal ossification","volume":"19","author":"Arai","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2015.05.001_bib0105","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1177\/0883073807305664","article-title":"Congenital bone fracture in spinal muscular atrophy: functional role for SMN protein in bone remodeling","volume":"22","author":"Shanmugarajan","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2015.05.001_bib0110","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":"Hsiu-Yu","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2015.05.001_bib0115","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1172\/JCI71318","article-title":"Dysregulation of ubiquitin homeostasis and b-catenin signaling promote spinal muscular atrophy","volume":"124","author":"Wishart","year":"2014","journal-title":"J Clin Invest"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896615001522?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896615001522?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:03:18Z","timestamp":1760774598000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896615001522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["S0960896615001522"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2015.05.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2015,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2015.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}