{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:25Z","timestamp":1791293125198,"version":"4.1.0"},"reference-count":91,"publisher":"Oxford University Press (OUP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain"],"published-print":{"date-parts":[[2015,7]]},"DOI":"10.1093\/brain\/awv117","type":"journal-article","created":{"date-parts":[[2015,5,16]],"date-time":"2015-05-16T20:10:58Z","timestamp":1431807058000},"page":"1817-1832","source":"Crossref","is-referenced-by-count":147,"title":["<i>De novo<\/i>\n                    point mutations in patients diagnosed with ataxic cerebral palsy"],"prefix":"10.1093","volume":"138","author":[{"given":"Ricardo","family":"Parolin Schnekenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma M.","family":"Perkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack W.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne I. L.","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"D\u2019Adamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Pessia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A.","family":"Fawcett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sims","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Gillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Hudspith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Skehel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"O\u2019Regan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Jayawant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalind","family":"Jefferson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Lustenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiannis","family":"Ragoussis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J.","family":"Tucker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea H.","family":"N\u00e9meth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,5,16]]},"reference":[{"key":"2015071503050645000_138.7.1817.1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"2015071503050645000_138.7.1817.2","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"2015071503050645000_138.7.1817.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.05.017"},{"key":"2015071503050645000_138.7.1817.4","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20443"},{"key":"2015071503050645000_138.7.1817.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.018"},{"key":"2015071503050645000_138.7.1817.6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001053"},{"key":"2015071503050645000_138.7.1817.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2011.03366.x"},{"key":"2015071503050645000_138.7.1817.8","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3389\/fgene.2012.00035","article-title":"Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift","volume":"3","author":"Cingolani","year":"2012","journal-title":"Front Genet"},{"key":"2015071503050645000_138.7.1817.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq279"},{"key":"2015071503050645000_138.7.1817.10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu103"},{"key":"2015071503050645000_138.7.1817.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61835-8"},{"key":"2015071503050645000_138.7.1817.12","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"2015071503050645000_138.7.1817.13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1983.tb00973.x"},{"key":"2015071503050645000_138.7.1817.14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8817.2004.00105.x"},{"key":"2015071503050645000_138.7.1817.15","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.5.1200"},{"key":"2015071503050645000_138.7.1817.16","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr330"},{"key":"2015071503050645000_138.7.1817.17","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.73"},{"key":"2015071503050645000_138.7.1817.18","doi-asserted-by":"publisher","DOI":"10.2144\/000112588"},{"key":"2015071503050645000_138.7.1817.19","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"2015071503050645000_138.7.1817.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.01.007"},{"key":"2015071503050645000_138.7.1817.21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.012"},{"key":"2015071503050645000_138.7.1817.22","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.150"},{"key":"2015071503050645000_138.7.1817.23","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21165"},{"key":"2015071503050645000_138.7.1817.24","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017811"},{"key":"2015071503050645000_138.7.1817.25","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.44"},{"key":"2015071503050645000_138.7.1817.26","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1111\/j.1469-8749.1996.tb15043.x","article-title":"Marsden CD, Dyskinetic cerebral palsy: a clinical and genetic study","volume":"38","author":"Fletcher","year":"1996","journal-title":"Dev Med Child Neurol"},{"key":"2015071503050645000_138.7.1817.27","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq1064"},{"key":"2015071503050645000_138.7.1817.28","doi-asserted-by":"publisher","DOI":"10.1038\/nature13394"},{"key":"2015071503050645000_138.7.1817.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2008.06.094"},{"key":"2015071503050645000_138.7.1817.30","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550030047032"},{"key":"2015071503050645000_138.7.1817.31","doi-asserted-by":"publisher","DOI":"10.1042\/bj20030110"},{"key":"2015071503050645000_138.7.1817.32","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-67"},{"key":"2015071503050645000_138.7.1817.33","doi-asserted-by":"publisher","DOI":"10.1038\/ng1728"},{"key":"2015071503050645000_138.7.1817.34","doi-asserted-by":"publisher","DOI":"10.1007\/s004240000406"},{"key":"2015071503050645000_138.7.1817.35","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2006.05186.x"},{"key":"2015071503050645000_138.7.1817.36","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812454331"},{"key":"2015071503050645000_138.7.1817.37","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsa1012370"},{"key":"2015071503050645000_138.7.1817.38","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31227"},{"key":"2015071503050645000_138.7.1817.39","doi-asserted-by":"publisher","DOI":"10.1038\/nature11396"},{"key":"2015071503050645000_138.7.1817.40","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23971"},{"key":"2015071503050645000_138.7.1817.41","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"2015071503050645000_138.7.1817.42","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.113.3.389"},{"key":"2015071503050645000_138.7.1817.43","doi-asserted-by":"publisher","DOI":"10.1007\/s12017-014-8331-9"},{"key":"2015071503050645000_138.7.1817.44","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp528"},{"key":"2015071503050645000_138.7.1817.45","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003074"},{"key":"2015071503050645000_138.7.1817.46","doi-asserted-by":"publisher","DOI":"10.1126\/science.1116269"},{"key":"2015071503050645000_138.7.1817.47","doi-asserted-by":"crossref","first-page":"18","DOI":"10.3389\/fnana.2013.00018","article-title":"Cellular and molecular basis of cerebellar development","volume":"7","author":"Martinez","year":"2013","journal-title":"Front Neuroanat"},{"key":"2015071503050645000_138.7.1817.48","first-page":"450","article-title":"Cellular commitment in the developing cerebellum","volume":"8","author":"Marzban","year":"2014","journal-title":"Front Cell Neurosci"},{"key":"2015071503050645000_138.7.1817.49","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"2015071503050645000_138.7.1817.50","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ejhg.2013.93","article-title":"Rare copy number variation in cerebral palsy","volume":"22","author":"McMichael","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"2015071503050645000_138.7.1817.51","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1006\/scel.1994.1033","article-title":"Structure and function of IP3 receptors","volume":"5","author":"Mikoshiba","year":"1994","journal-title":"Semin Cell Biol"},{"key":"2015071503050645000_138.7.1817.52","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2010.12.006"},{"key":"2015071503050645000_138.7.1817.53","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2014.213"},{"key":"2015071503050645000_138.7.1817.54","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082263"},{"key":"2015071503050645000_138.7.1817.55","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70287-3"},{"key":"2015071503050645000_138.7.1817.56","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"2015071503050645000_138.7.1817.57","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80169-0"},{"key":"2015071503050645000_138.7.1817.58","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsb035364"},{"key":"2015071503050645000_138.7.1817.59","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt236"},{"key":"2015071503050645000_138.7.1817.60","doi-asserted-by":"publisher","DOI":"10.1097\/GRF.0b013e3181870ba7"},{"key":"2015071503050645000_138.7.1817.61","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12080"},{"key":"2015071503050645000_138.7.1817.62","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0710010105"},{"key":"2015071503050645000_138.7.1817.63","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200409197"},{"key":"2015071503050645000_138.7.1817.64","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.6065-09.2010"},{"key":"2015071503050645000_138.7.1817.65","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"},{"key":"2015071503050645000_138.7.1817.66","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2007.07.010"},{"key":"2015071503050645000_138.7.1817.67","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.3.445"},{"key":"2015071503050645000_138.7.1817.68","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/dmcn.12228","article-title":"Population-based studies of brain imaging patterns in cerebral palsy","volume":"56","author":"Reid","year":"2013","journal-title":"Dev Med Child Neurol"},{"key":"2015071503050645000_138.7.1817.69","first-page":"8","article-title":"A report: the definition and classification of cerebral palsy April 2006","volume":"109","author":"Rosenbaum","year":"2007","journal-title":"Dev Med Child Neurol Suppl"},{"key":"2015071503050645000_138.7.1817.70","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7742(08)60363-3"},{"key":"2015071503050645000_138.7.1817.71","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2012-302881"},{"key":"2015071503050645000_138.7.1817.72","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1038\/ejhg.2013.91","article-title":"Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease","volume":"21","author":"Shanks","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"2015071503050645000_138.7.1817.73","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.172"},{"key":"2015071503050645000_138.7.1817.74","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"2015071503050645000_138.7.1817.75","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"2015071503050645000_138.7.1817.76","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12262"},{"key":"2015071503050645000_138.7.1817.77","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24251"},{"key":"2015071503050645000_138.7.1817.78","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(98)00019-9"},{"key":"2015071503050645000_138.7.1817.79","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/j.1469-8749.1998.tb15438.x","article-title":"Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects","volume":"40","author":"Steinlin","year":"1998","journal-title":"Dev Med Child Neurol"},{"key":"2015071503050645000_138.7.1817.80","volume-title":"Spinocerebellar Ataxia Type 15","author":"Storey","year":"1993"},{"key":"2015071503050645000_138.7.1817.81","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"2015071503050645000_138.7.1817.82","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000487"},{"key":"2015071503050645000_138.7.1817.83","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0030108"},{"key":"2015071503050645000_138.7.1817.84","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3241"},{"key":"2015071503050645000_138.7.1817.85","doi-asserted-by":"publisher","DOI":"10.1387\/ijdb.092853cv"},{"key":"2015071503050645000_138.7.1817.86","doi-asserted-by":"publisher","DOI":"10.1038\/ng1758"},{"key":"2015071503050645000_138.7.1817.87","doi-asserted-by":"crossref","DOI":"10.1007\/978-0-387-98141-3","volume-title":"ggplot2: elegant graphics for data analysis","author":"Wickham","year":"2009"},{"key":"2015071503050645000_138.7.1817.88","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03540350075038"},{"key":"2015071503050645000_138.7.1817.89","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"},{"key":"2015071503050645000_138.7.1817.90","doi-asserted-by":"publisher","DOI":"10.1080\/08035250410022413"},{"key":"2015071503050645000_138.7.1817.91","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.07.027"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/138\/7\/1817\/13800053\/awv117.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T20:04:38Z","timestamp":1503432278000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awv117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,16]]},"references-count":91,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2015,6,23]]},"published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1093\/brain\/awv117"],"URL":"https:\/\/doi.org\/10.1093\/brain\/awv117","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,16]]}}}