{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:17:33Z","timestamp":1790864253382,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T00:00:00Z","timestamp":1308268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:p>A group of disorders with disparate symptomatology, including congenital cerebellar ataxia, retinal blindness, liver fibrosis, polycystic kidney disease, and polydactyly, have recently been united under a single disease mechanism called \u2018ciliopathies\u2019. The ciliopathies are due to defects of the cellular antenna known as the primary cilium, a microtubule\u2010based extension of cellular membranes found in nearly all cell types. Key among these ciliopathies is Joubert syndrome, displaying ataxia, oculomotor apraxia, and mental retardation<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#fn1\">*<\/jats:ext-link> with a pathognomonic \u2018molar tooth sign\u2019 on brain magnetic resonance imaging. The importance of ciliary function in neuronal development has been appreciated only in the last decade with the classification of Joubert syndrome as a ciliopathy. This, together with the identification of many of the clinical features of ciliopathies in individuals with Joubert syndrome and the localization of Joubert syndrome\u2019s causative gene products at or near the primary cilium, have defined a new class of neurological disease. Cilia are involved in diverse cellular processes including protein trafficking, photoreception, embryonic axis patterning, and cell cycle regulation. Ciliary dysfunction can affect a single tissue or manifest as multi\u2010organ involvement. Ciliary defects have been described in retinopathies such as retinitis pigmentosa and Leber congenital amaurosis (defects in photoreceptor ciliary protein complexes), renal syndromes with nephronophthisis and cystic dysplastic kidneys, and liver conditions such as fibrosis and biliary cirrhosis. Recognizing the diverse presentations of the ciliopathies and screening strategies following diagnosis is an important part of the treatment plan of children with cilia\u2010related disorders.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04021.x","type":"journal-article","created":{"date-parts":[[2011,6,18]],"date-time":"2011-06-18T01:08:48Z","timestamp":1308359328000},"page":"793-798","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":141,"title":["The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome\u2010related disorders"],"prefix":"10.1111","volume":"53","author":[{"given":"SHIFTEH","family":"SATTAR","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JOSEPH G","family":"GLEESON","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,17]]},"reference":[{"key":"e_1_2_12_2_2","first-page":"302","article-title":"Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation","volume":"18","author":"Joubert M","year":"1968","journal-title":"Neurology"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400605"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20437"},{"key":"e_1_2_12_5_2","first-page":"68","article-title":"The birth prevalence of Joubert syndrome: a population based study in the Netherlands","volume":"15","author":"Kroes HY","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp247"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20749"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036608"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01047.x"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.002"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30294"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/421846"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/519026"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052027"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1786"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1805"},{"key":"e_1_2_12_18_2","first-page":"831","article-title":"Cerebellar vermis and midbrain dysgenesis in oculomotor apraxia: MR findings","volume":"16","author":"Whitsel EA","year":"1995","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.106225"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.03320410"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-981466"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700514"},{"key":"e_1_2_12_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0804-9"},{"key":"e_1_2_12_24_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071365"},{"key":"e_1_2_12_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082552"},{"key":"e_1_2_12_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.97"},{"key":"e_1_2_12_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mri.2010.06.024"},{"key":"e_1_2_12_28_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.2.119"},{"key":"e_1_2_12_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.594"},{"key":"e_1_2_12_30_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"e_1_2_12_31_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067249"},{"key":"e_1_2_12_32_2","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1867"}],"container-title":["Developmental Medicine &amp; 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