{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T08:53:17Z","timestamp":1783587197172,"version":"3.55.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.braindev.2021.08.004","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T07:43:23Z","timestamp":1629963803000},"page":"63-67","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["A patient with early-onset SMAX3 and a novel variant of ATP7A"],"prefix":"10.1016","volume":"44","author":[{"given":"Moriei","family":"Shibuya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisao","family":"Yaoita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Kodama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukimune","family":"Okubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wakaba","family":"Endo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takehiko","family":"Inui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Togashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Takayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Tamiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuo","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Haginoya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.braindev.2021.08.004_b0005","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.abb.2007.04.021","article-title":"Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis","volume":"463","author":"La Fontaine","year":"2007","journal-title":"Arch Biochem Biophys"},{"issue":"1","key":"10.1016\/j.braindev.2021.08.004_b0010","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/nyas.12427","article-title":"ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A","volume":"1314","author":"Yi","year":"2014","journal-title":"Ann N Y Acad Sci"},{"issue":"3","key":"10.1016\/j.braindev.2021.08.004_b0015","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2010.01.027","article-title":"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy","volume":"86","author":"Kennerson","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"10","key":"10.1016\/j.braindev.2021.08.004_b0020","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.nmd.2019.08.008","article-title":"Report of a novel ATP7A mutation causing distal motor neuropathy","volume":"29","author":"Gualandi","year":"2019","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.braindev.2021.08.004_b0025","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1177\/088307389701200102","article-title":"Study of nerve conduction and late responses in normal Chinese infants, children, and adults","volume":"12","author":"Cai","year":"1997","journal-title":"J Child Neurol"},{"issue":"5","key":"10.1016\/j.braindev.2021.08.004_b0030","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1002\/acn3.551","article-title":"Genomic analysis identifies masqueraders of full-term cerebral palsy","volume":"5","author":"Takezawa","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"10.1016\/j.braindev.2021.08.004_b0035","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-020-20146-8","article-title":"Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference","volume":"12","author":"Takayama","year":"2021","journal-title":"Nat Commun"},{"issue":"7809","key":"10.1016\/j.braindev.2021.08.004_b0040","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.braindev.2021.08.004_b0045","doi-asserted-by":"crossref","unstructured":"Tadaka S, Saigusa D, Motoike IN, Inoue J, Aoki Y, Shirota M, et al. jMorp: Japanese multi omics reference panel. Nucleic Acids Res 2018;46:D551-D7.","DOI":"10.1093\/nar\/gkx978"},{"key":"10.1016\/j.braindev.2021.08.004_b0050","doi-asserted-by":"crossref","unstructured":"Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 2012;40:W452-7.","DOI":"10.1093\/nar\/gks539"},{"issue":"4","key":"10.1016\/j.braindev.2021.08.004_b0055","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"4","key":"10.1016\/j.braindev.2021.08.004_b0060","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1016\/j.braindev.2021.08.004_b0065","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","article-title":"CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores","volume":"13","author":"Rentzsch","year":"2021","journal-title":"Genome Med"},{"issue":"5","key":"10.1016\/j.braindev.2021.08.004_b0070","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2021.08.004_b0075","doi-asserted-by":"crossref","unstructured":"Desai V, Kaler SG. Role of copper in human neurological disorders. Am J Clin Nutr 2008;88:855S-58S.","DOI":"10.1093\/ajcn\/88.3.855S"},{"issue":"3","key":"10.1016\/j.braindev.2021.08.004_b0080","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.mcn.2006.11.018","article-title":"ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis","volume":"34","author":"El Meskini","year":"2007","journal-title":"Mol Cell Neurosci"},{"issue":"3","key":"10.1016\/j.braindev.2021.08.004_b0085","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/humu.22266","article-title":"An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome","volume":"34","author":"T\u00fcmer","year":"2013","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.braindev.2021.08.004_b0090","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1007\/s00415-019-09646-w","article-title":"MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients","volume":"267","author":"Brogna","year":"2020","journal-title":"J Neurol"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760421001546?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760421001546?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:50:28Z","timestamp":1759953028000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760421001546"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S0387760421001546"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2021.08.004","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A patient with early-onset SMAX3 and a novel variant of ATP7A","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2021.08.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}