{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T04:51:53Z","timestamp":1782276713282,"version":"3.54.5"},"reference-count":13,"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","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.ejmg.2019.01.012","type":"journal-article","created":{"date-parts":[[2019,1,27]],"date-time":"2019-01-27T05:17:58Z","timestamp":1548566278000},"page":"103622","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Expanded PCH1D phenotype linked to EXOSC9 mutation"],"prefix":"10.1016","volume":"63","author":[{"given":"Sami","family":"Bizzari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul Rezzak","family":"Hamzeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madiha","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Taleb","family":"Al-Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Bastaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2019.01.012_bib1","doi-asserted-by":"crossref","first-page":"4287","DOI":"10.1038\/ncomms5287","article-title":"EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia","volume":"5","author":"Boczonadi","year":"2014","journal-title":"Nat. Commun."},{"issue":"5","key":"10.1016\/j.ejmg.2019.01.012_bib2","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.ajhg.2018.03.011","article-title":"Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy","volume":"102","author":"Burns","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2019.01.012_bib3","series-title":"GeneReviews((R))","article-title":"EXOSC3-Related pontocerebellar hypoplasia","author":"Eggens","year":"1993"},{"issue":"1","key":"10.1016\/j.ejmg.2019.01.012_bib4","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1534\/genetics.116.195917","article-title":"Insight into the RNA exosome complex through modeling pontocerebellar hypoplasia type 1b disease mutations in yeast","volume":"205","author":"Fasken","year":"2017","journal-title":"Genetics"},{"issue":"11","key":"10.1016\/j.ejmg.2019.01.012_bib5","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1007\/s00415-014-7457-x","article-title":"Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia","volume":"261","author":"Halevy","year":"2014","journal-title":"J. Neurol."},{"issue":"4","key":"10.1016\/j.ejmg.2019.01.012_bib6","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.ejpn.2018.03.011","article-title":"Pontocerebellar hypoplasia type 1 for the neuropediatrician: genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature","volume":"22","author":"Ivanov","year":"2018","journal-title":"Eur. J. Paediatr. Neurol.: EJPN: Offic. J. Eur. Paediatr. Neurol. Soc."},{"issue":"4","key":"10.1016\/j.ejmg.2019.01.012_bib7","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/nrm.2015.15","article-title":"The regulation and functions of the nuclear RNA exosome complex","volume":"17","author":"Kilchert","year":"2016","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"7439","key":"10.1016\/j.ejmg.2019.01.012_bib8","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/nature11870","article-title":"Crystal structure of an RNA-bound 11-subunit eukaryotic exosome complex","volume":"495","author":"Makino","year":"2013","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.ejmg.2019.01.012_bib9","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.stem.2012.04.022","article-title":"Progenitor function in self-renewing human epidermis is maintained by the exosome","volume":"11","author":"Mistry","year":"2012","journal-title":"Cell Stem Cell"},{"issue":"2","key":"10.1016\/j.ejmg.2019.01.012_bib10","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1261\/rna.064626.117","article-title":"The RNA exosome and RNA exosome-linked disease","volume":"24","author":"Morton","year":"2018","journal-title":"RNA (New York, N.Y.)"},{"key":"10.1016\/j.ejmg.2019.01.012_bib11","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.ejrnm.2015.10.010","article-title":"MR Spectroscopy evaluation of white matter signal abnormalities of different non-neoplastic brain lesions","volume":"47","author":"Randa","year":"2016","journal-title":"Egypt. J. Radiol. Nucl. Med."},{"issue":"20","key":"10.1016\/j.ejmg.2019.01.012_bib12","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1101\/gad.224923.113","article-title":"A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage","volume":"27","author":"Richard","year":"2013","journal-title":"Genes Dev."},{"key":"10.1016\/j.ejmg.2019.01.012_bib13","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.mito.2017.06.007","article-title":"Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia","volume":"37","author":"Schottmann","year":"2017","journal-title":"Mitochondrion"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218307067?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218307067?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:48:10Z","timestamp":1761709690000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721218307067"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S1769721218307067"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.01.012","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanded PCH1D phenotype linked to EXOSC9 mutation","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.01.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"103622"}}