{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T21:33:23Z","timestamp":1784064803501,"version":"3.55.0"},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"crossref","award":["#2877"],"award-info":[{"award-number":["#2877"]}],"id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","prd-journal.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism & Related Disorders"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1016\/j.parkreldis.2019.04.017","type":"journal-article","created":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T11:20:16Z","timestamp":1556191216000},"page":"328-331","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum"],"prefix":"10.1016","volume":"64","author":[{"given":"Faiza","family":"Aslam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaf","family":"Naz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.parkreldis.2019.04.017_bib1","doi-asserted-by":"crossref","first-page":"e209","DOI":"10.1212\/NXG.0000000000000209","article-title":"Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function","volume":"4","author":"Mendoza-Ferreira","year":"2018","journal-title":"Neurol. Genet."},{"issue":"3","key":"10.1016\/j.parkreldis.2019.04.017_bib2","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/01376517-199106000-00012","article-title":"Proposed guidelines for videotaping individuals with movement disorders","volume":"23","author":"Moskowitz","year":"1991","journal-title":"J. Neurosci. Nurs."},{"issue":"3","key":"10.1016\/j.parkreldis.2019.04.017_bib3","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"issue":"2","key":"10.1016\/j.parkreldis.2019.04.017_bib4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s10048-017-0508-6","article-title":"TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum","volume":"18","author":"Tariq","year":"2017","journal-title":"Neurogenetics"},{"issue":"1","key":"10.1016\/j.parkreldis.2019.04.017_bib5","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1006\/bbrc.2001.4305","article-title":"Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages","volume":"281","author":"Kaminski","year":"2001","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.parkreldis.2019.04.017_bib6","doi-asserted-by":"crossref","first-page":"9124","DOI":"10.1038\/srep09124","article-title":"Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS","volume":"5","author":"Steinberg","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.parkreldis.2019.04.017_bib7","first-page":"1","article-title":"Autozygome and high throughput confirmation of disease genes candidacy","author":"Maddirevula","year":"2018","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.parkreldis.2019.04.017_bib8","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1128\/MCB.01824-06","article-title":"\u201cSkittish\u201d Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system","volume":"27","author":"Mack","year":"2007","journal-title":"Mol. Cell Biol."},{"issue":"27","key":"10.1016\/j.parkreldis.2019.04.017_bib9","doi-asserted-by":"crossref","first-page":"19692","DOI":"10.1074\/jbc.M611056200","article-title":"ABCA2 deficiency results in abnormal sphingolipid metabolism in mouse brain","volume":"282","author":"Sakai","year":"2007","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.parkreldis.2019.04.017_bib10","first-page":"118","article-title":"The role of ATP-binding cassette transporter A2 in childhood acute lymphoblastic leukemia multidrug resistance, Iran","volume":"4","author":"Aberuyi","year":"2014","journal-title":"J. Ped. Hematol. Oncol."}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019302123?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019302123?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T10:21:20Z","timestamp":1574072480000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802019302123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":10,"alternative-id":["S1353802019302123"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.04.017","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.04.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}