{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T17:54:26Z","timestamp":1791568466902,"version":"4.3.4"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2019,3,8]],"date-time":"2019-03-08T00:00:00Z","timestamp":1552003200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"South Eastern Health region","award":["2014018"],"award-info":[{"award-number":["2014018"]}]},{"name":"Southeastern Norway Regional Health Authorities Technology Platform for Structural Biology","award":["2015095"],"award-info":[{"award-number":["2015095"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4,1]]},"DOI":"10.1093\/brain\/awz041","type":"journal-article","created":{"date-parts":[[2019,2,5]],"date-time":"2019-02-05T12:29:05Z","timestamp":1549369745000},"page":"e12-e12","source":"Crossref","is-referenced-by-count":31,"title":["Biallelic <i>POLR3A<\/i> variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis"],"prefix":"10.1093","volume":"142","author":[{"given":"Siri L","family":"Rydning","sequence":"first","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, Norway"},{"name":"Department of Neurology, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanette","family":"Koht","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, Norway"},{"name":"Department of Neurology, Vestre Viken Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Sheng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Sowa","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne S","family":"Hjorthaug","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iselin M","family":"Wedding","sequence":"additional","affiliation":[{"name":"Department of Neurology, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Kjersti","family":"Erichsen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inger Anette","family":"Hovden","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul H","family":"Backe","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, University of Oslo, Norway"},{"name":"Department of Microbiology, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal M E","family":"Tallaksen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus D","family":"Vigeland","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, Norway"},{"name":"Department of Medical Genetics, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaja K","family":"Selmer","sequence":"additional","affiliation":[{"name":"Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Norway"},{"name":"National Centre for Epilepsy, Oslo University Hospital, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,3,7]]},"reference":[{"key":"key\n\t\t\t\t2019032903594460400_awz041-B1","doi-asserted-by":"crossref","first-page":"4302","DOI":"10.1093\/hmg\/ddw263","article-title":"Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement","volume":"25","author":"Azmanov","year":"2016","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B2","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1093\/brain\/awx290","article-title":"POLR3A variants in hereditary spastic paraplegia and ataxia","volume":"141","author":"Gauquelin","year":"2018","journal-title":"Brain"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B3","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1212\/WNL.0000000000002612","article-title":"Diffuse hypomyelination is not obligate for POLR3-related disorders","volume":"86","author":"La Piana","year":"2016","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B4","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1177\/0883073813503902","article-title":"Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies","volume":"29","author":"La Piana","year":"2014","journal-title":"J Child Neurol"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B5","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1093\/brain\/awx291","article-title":"Reply: POLR3A variants in hereditary spastic paraplegia and ataxia","volume":"141","author":"Minnerop","year":"2018","journal-title":"Brain"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B6","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1093\/brain\/awx095","article-title":"Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia","volume":"140","author":"Minnerop","year":"2017","journal-title":"Brain"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B7","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1136\/jmedgenet-2018-105528","article-title":"Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome","volume":"55","author":"Paolacci","year":"2018","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B8","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1002\/mds.27415","article-title":"The genetic nomenclature of recessive cerebellar ataxias","volume":"33","author":"Rossi","year":"2018","journal-title":"Mov Disord"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B9","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1093\/brain\/121.4.561","article-title":"The cerebellar cognitive affective syndrome","volume":"121","author":"Schmahmann","year":"1998","journal-title":"Brain"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B10","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","article-title":"Scale for the assessment and rating of ataxia: development of a new clinical scale","volume":"66","author":"Schmitz-Hubsch","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B11","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","article-title":"The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity","volume":"67","author":"Schule","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B12","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1055\/s-0037-1599141","article-title":"4H leukodystrophy: a brain magnetic resonance imaging scoring system","volume":"48","author":"Vrij-van den Bos","year":"2017","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B13","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1186\/s13023-015-0328-4","article-title":"Friedreich ataxia in Norway\u2014an epidemiological, molecular and clinical study","volume":"10","author":"Wedding","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t2019032903594460400_awz041-B14","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/j.ophtha.2015.03.018","article-title":"Increasing prevalence of myopia in Europe and the impact of education","volume":"122","author":"Williams","year":"2015","journal-title":"Ophthalmology"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/142\/4\/e12\/28229573\/awz041.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,29]],"date-time":"2019-03-29T07:59:58Z","timestamp":1553846398000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/142\/4\/e12\/5371510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,7]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,3,7]]},"published-print":{"date-parts":[[2019,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awz041","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,4]]},"published":{"date-parts":[[2019,3,7]]}}}