{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:56:06Z","timestamp":1791190566633,"version":"4.1.0"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1093\/brain\/awt095","type":"journal-article","created":{"date-parts":[[2013,5,18]],"date-time":"2013-05-18T01:50:09Z","timestamp":1368841809000},"page":"1708-1717","source":"Crossref","is-referenced-by-count":224,"title":["Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation"],"prefix":"10.1093","volume":"136","author":[{"given":"Susan J.","family":"Hayflick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C.","family":"Kruer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Gregory","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry H.","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Sanford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami I.","family":"Harik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasuki H.","family":"Dandu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nardo","family":"Nardocci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zorzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd","family":"Dunaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Tarnopolsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Skinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Frucht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Era","family":"Hanspal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Connie","family":"Schrander-Stumpel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"H\u00e9ron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn E.","family":"Saunders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Kaminska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Lascelles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan M.","family":"Cuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajith","family":"de Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Crisp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lunt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martyn","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope","family":"Hogarth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,5,17]]},"reference":[{"key":"key\n\t\t\t\t20170405111142_awt095-B1","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"},{"key":"key\n\t\t\t\t20170405111142_awt095-B2","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature09204","article-title":"Network organization of the human autophagy system","volume":"466","author":"Behrends","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170405111142_awt095-B3","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1093\/bioinformatics\/btl423","article-title":"Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information","volume":"22","author":"Capriotti","year":"2006","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170405111142_awt095-B4","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajo.2005.03.024","article-title":"Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)","volume":"140","author":"Egan","year":"2005","journal-title":"Am J Ophthalmol"},{"key":"key\n\t\t\t\t20170405111142_awt095-B5","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1148\/radiology.204.2.9240529","article-title":"Paramagnetic metal scavenging by melanin: MR imaging","volume":"204","author":"Enochs","year":"1997","journal-title":"Radiology"},{"key":"key\n\t\t\t\t20170405111142_awt095-B6","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1046\/j.1471-4159.2003.01923.x","article-title":"Neuromelanin associated redox-active iron is increased in the substantia nigra of patients with Parkinson's disease","volume":"86","author":"Faucheux","year":"2003","journal-title":"J Neurochem"},{"key":"key\n\t\t\t\t20170405111142_awt095-B7","doi-asserted-by":"crossref","first-page":"3176","DOI":"10.1093\/bioinformatics\/bti486","article-title":"PMUT: a web-based tool for the annotation of pathological mutations on proteins","volume":"21","author":"Ferrer-Costa","year":"2005","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170405111142_awt095-B8","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1148\/rg.322105761","article-title":"Intracranial lesions with high signal intensity on T1-weighted MR images: differential diagnosis","volume":"32","author":"Ginat","year":"2012","journal-title":"Radiographics"},{"key":"key\n\t\t\t\t20170405111142_awt095-B9","article-title":"Pantothenate Kinase-Associated Neurodegeneration","author":"Gregory"},{"key":"key\n\t\t\t\t20170405111142_awt095-B10","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1007\/s11910-011-0181-3","article-title":"Genetics of neurodegeneration with brain iron accumulation","volume":"11","author":"Gregory","year":"2011","journal-title":"Current neurology and neuroscience reports"},{"key":"key\n\t\t\t\t20170405111142_awt095-B11","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.2008.061929","article-title":"Clinical and genetic delineation of neurodegeneration with brain iron accumulation","volume":"46","author":"Gregory","year":"2009","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20170405111142_awt095-B12","first-page":"11444","article-title":"Exome sequencing reveals de novo mutations in WDR45 causing a phenotypically distinct, X-linked dominant form of NBIA","volume":"7","author":"Haack","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170405111142_awt095-B13","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1212\/WNL.0b013e31827e07be","article-title":"New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN","volume":"80","author":"Hogarth","year":"2013","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170405111142_awt095-B14","doi-asserted-by":"crossref","first-page":"407","DOI":"10.3174\/ajnr.A2677","article-title":"Neuroimaging features of neurodegeneration with brain iron accumulation","volume":"33","author":"Kruer","year":"2012","journal-title":"AJNR Am J Neuroradiol"},{"issue":"Pt 4","key":"key\n\t\t\t\t20170405111142_awt095-B15","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1093\/brain\/awr042","article-title":"Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration","volume":"134","author":"Kruer","year":"2011","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170405111142_awt095-B16","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/1741-7007-10-78","article-title":"Autophagy impairment: a crossroad between neurodegeneration and tauopathies","volume":"10","author":"Nassif","year":"2012","journal-title":"BMC Biol"},{"key":"key\n\t\t\t\t20170405111142_awt095-B17","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20170405111142_awt095-B18","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s12640-009-9140-z","article-title":"Neuromelanin activates microglia and induces degeneration of dopaminergic neurons: implications for progression of Parkinson's disease","volume":"19","author":"Zhang","year":"2011","journal-title":"Neurotox Res"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/136\/6\/1708\/11138929\/awt095.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,13]],"date-time":"2019-07-13T19:10:33Z","timestamp":1563045033000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awt095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,17]]},"references-count":18,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2013,5,17]]},"published-print":{"date-parts":[[2013,6]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awt095","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5,17]]}}}