{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T19:57:18Z","timestamp":1792526238483,"version":"4.5.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,6,1]]},"DOI":"10.1093\/brain\/awu082","type":"journal-article","created":{"date-parts":[[2014,5,23]],"date-time":"2014-05-23T11:16:56Z","timestamp":1400843816000},"page":"1676-1700","source":"Crossref","is-referenced-by-count":319,"title":["The wide spectrum of tubulinopathies: what are the key features for the diagnosis?"],"prefix":"10.1093","volume":"137","author":[{"given":"Nadia","family":"Bahi-Buisson","sequence":"first","affiliation":[{"name":"1 Institut Cochin, Universit\u00e9 Paris-Descartes, CNRS (UMR 8104), Paris, France"},{"name":"2 Inserm, U1016, Paris, France"},{"name":"3 Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Institut Imagine, Paris, France"},{"name":"4 INSERM UMR-1163, Embryology and genetics of congenital malformations, Paris, France"},{"name":"5 Service de Neurologie p\u00e9diatrique, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), h\u00f4pital Necker, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Poirier","sequence":"additional","affiliation":[{"name":"1 Institut Cochin, Universit\u00e9 Paris-Descartes, CNRS (UMR 8104), Paris, France"},{"name":"2 Inserm, U1016, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Fourniol","sequence":"additional","affiliation":[{"name":"6 CRUK London Research Institute, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Saillour","sequence":"additional","affiliation":[{"name":"1 Institut Cochin, Universit\u00e9 Paris-Descartes, CNRS (UMR 8104), Paris, France"},{"name":"2 Inserm, U1016, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Valence","sequence":"additional","affiliation":[{"name":"1 Institut Cochin, Universit\u00e9 Paris-Descartes, CNRS (UMR 8104), Paris, France"},{"name":"2 Inserm, U1016, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Lebrun","sequence":"additional","affiliation":[{"name":"1 Institut Cochin, Universit\u00e9 Paris-Descartes, CNRS (UMR 8104), Paris, France"},{"name":"2 Inserm, U1016, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Hully","sequence":"additional","affiliation":[{"name":"5 Service de Neurologie p\u00e9diatrique, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), h\u00f4pital Necker, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Fallet Bianco","sequence":"additional","affiliation":[{"name":"7 Universit\u00e9 de Montreal\u2013CHU Sainte Justine, Montreal (QC), Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[{"name":"8 Service de Radiologie P\u00e9diatrique, AP-HP, h\u00f4pital Necker, Paris, France"},{"name":"9 Inserm, U797-INSERM-CEA, Service Hospitalier Fr\u00e9d\u00e9ric Joliot, CEA, 4, place du General Leclerc, 91406, Orsay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Elie","sequence":"additional","affiliation":[{"name":"10 BioInformatic Department-AP-HP, h\u00f4pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Lascelles","sequence":"additional","affiliation":[{"name":"11 Evelina Children\u2019s Hospital, St Thomas Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Souville","sequence":"additional","affiliation":[{"name":"12 Service de Biologie Moleculaire et Genetique, Pavillon Cassini AP-HP, H\u00f4pital Cochin, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"LIS-Tubulinopathies Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherif","family":"Beldjord","sequence":"additional","affiliation":[{"name":"12 Service de Biologie Moleculaire et Genetique, Pavillon Cassini AP-HP, H\u00f4pital Cochin, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[{"name":"1 Institut Cochin, Universit\u00e9 Paris-Descartes, CNRS (UMR 8104), Paris, France"},{"name":"2 Inserm, U1016, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,5,22]]},"reference":[{"key":"key\n\t\t\t\t20180328164257_awu082-B1","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.ajhg.2009.10.007","article-title":"Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia","volume":"85","author":"Abdollahi","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B2","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1111\/cge.12141","article-title":"Polymicrogyria with dysmorphic basal ganglia? Think tubulin!","volume":"85","author":"Amrom","year":"2014","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B3","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1136\/jmg.2008.058073","article-title":"Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations","volume":"45","author":"Bahi-Buisson","year":"2008","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B4","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/s00234-009-0644-2","article-title":"Current concepts of polymicrogyria","volume":"52","author":"Barkovich","year":"2010","journal-title":"Neuroradiology"},{"issue":"Pt. 5","key":"key\n\t\t\t\t20180328164257_awu082-B5","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A developmental and genetic classification for malformations of cortical development: update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328164257_awu082-B6","first-page":"1814","article-title":"Syndromes of bilateral symmetrical polymicrogyria","volume":"20","author":"Barkovich","year":"1999","journal-title":"AJNR Am J Neuroradiol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B7","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1212\/01.wnl.0000183747.05269.2d","article-title":"A developmental and genetic classification for malformations of cortical development","volume":"65","author":"Barkovich","year":"2005","journal-title":"Neurology"},{"issue":"Pt 2","key":"key\n\t\t\t\t20180328164257_awu082-B8","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1093\/brain\/awt001","article-title":"Complication begets clarification in classification","volume":"136","author":"Barkovich","year":"2013","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328164257_awu082-B9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilguvar","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328164257_awu082-B10","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1016\/j.celrep.2012.11.017","article-title":"Mutations in the beta-Tubulin Gene TUBB5 cause microcephaly with structural brain abnormalities","volume":"2","author":"Breuss","year":"2012","journal-title":"Cell Rep"},{"key":"key\n\t\t\t\t20180328164257_awu082-B11","doi-asserted-by":"crossref","first-page":"5484","DOI":"10.1093\/hmg\/dds393","article-title":"An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation","volume":"21","author":"Cederquist","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"Pt 2","key":"key\n\t\t\t\t20180328164257_awu082-B12","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1093\/brain\/aws345","article-title":"A novel syndrome caused by the E410K amino acid substitution in the neuronal beta-tubulin isotype 3","volume":"136","author":"Chew","year":"2013","journal-title":"Brain"},{"issue":"Pt 2","key":"key\n\t\t\t\t20180328164257_awu082-B13","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1093\/brain\/aws338","article-title":"Overlapping cortical malformations and mutations in TUBB2B and TUBA1A","volume":"136","author":"Cushion","year":"2013","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328164257_awu082-B14","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1212\/WNL.53.2.270","article-title":"Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly","volume":"53","author":"Dobyns","year":"1999","journal-title":"Neurology"},{"issue":"Pt 9","key":"key\n\t\t\t\t20180328164257_awu082-B15","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1093\/brain\/awn155","article-title":"Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A","volume":"131","author":"Fallet-Bianco","year":"2008","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328164257_awu082-B16","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/ejhg.2012.21","article-title":"Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations","volume":"20","author":"Guerrini","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B17","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.tins.2007.04.001","article-title":"The centrosome in neuronal development","volume":"30","author":"Higginbotham","year":"2007","journal-title":"Trends Neurosci"},{"key":"key\n\t\t\t\t20180328164257_awu082-B18","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.braindev.2013.02.006","article-title":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease","volume":"36","author":"Hikita","year":"2014","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20180328164257_awu082-B19","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/j.tcb.2009.08.006","article-title":"Control of neuronal polarity and plasticity\u2014a renaissance for microtubules?","volume":"19","author":"Hoogenraad","year":"2009","journal-title":"Trends Cell Biol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B20","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.tig.2009.10.003","article-title":"Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects","volume":"25","author":"Jaglin","year":"2009","journal-title":"Trends Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B21","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/ng.380","article-title":"Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria","volume":"41","author":"Jaglin","year":"2009","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B22","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1212\/WNL.0b013e31821043f5","article-title":"TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria","volume":"76","author":"Jansen","year":"2011","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180328164257_awu082-B23","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/cm.970160302","article-title":"Diversity among tubulin subunits: toward what functional end?","volume":"16","author":"Joshi","year":"1990","journal-title":"Cell Motility Cytoskeleton"},{"key":"key\n\t\t\t\t20180328164257_awu082-B24","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.cell.2006.12.017","article-title":"Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans","volume":"128","author":"Keays","year":"2007","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180328164257_awu082-B25","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1093\/hmg\/ddq182","article-title":"TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins","volume":"19","author":"Kumar","year":"2010","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B26","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1007\/s00401-010-0684-z","article-title":"Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype","volume":"119","author":"Lecourtois","year":"2010","journal-title":"Acta Neuropathol"},{"issue":"Pt 5","key":"key\n\t\t\t\t20180328164257_awu082-B27","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/brain\/awq078","article-title":"Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients","volume":"133","author":"Leventer","year":"2010","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328164257_awu082-B28","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1083\/jcb.105.4.1707","article-title":"In vivo microtubules are copolymers of available beta-tubulin isotypes: localization of each of six vertebrate beta-tubulin isotypes using polyclonal antibodies elicited by synthetic peptide antigens","volume":"105","author":"Lopata","year":"1987","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B29","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1006\/jmbi.2001.5077","article-title":"Refined structure of alpha beta-tubulin at 3.5 A resolution","volume":"313","author":"Lowe","year":"2001","journal-title":"J Mol Biol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B30","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1091\/mbc.4.5.445","article-title":"Are tubulin isotypes functionally significant","volume":"4","author":"Luduena","year":"1993","journal-title":"Mol Biol Cell"},{"key":"key\n\t\t\t\t20180328164257_awu082-B31","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1177\/0883073811436326","article-title":"Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary","volume":"27","author":"Mokanszki","year":"2012","journal-title":"J Child Neurol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B32","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/j.1399-0004.2008.01093.x","article-title":"Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly","volume":"74","author":"Morris-Rosendahl","year":"2008","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B33","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/34465","article-title":"Structure of the alpha beta tubulin dimer by electron crystallography","volume":"391","author":"Nogales","year":"1998","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328164257_awu082-B34","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1017\/S0317167100025981","article-title":"Lissencephaly","volume":"3","author":"Norman","year":"1976","journal-title":"Can J Neurol Sci"},{"key":"key\n\t\t\t\t20180328164257_awu082-B35","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.braindev.2012.05.006","article-title":"Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation","volume":"35","author":"Okumura","year":"2013","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20180328164257_awu082-B36","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/humu.20572","article-title":"Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)","volume":"28","author":"Poirier","year":"2007","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180328164257_awu082-B37","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/ng.2613","article-title":"Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly","volume":"45","author":"Poirier","year":"2013","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B38","doi-asserted-by":"crossref","first-page":"4462","DOI":"10.1093\/hmg\/ddq377","article-title":"Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects","volume":"19","author":"Poirier","year":"2010","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B39","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ejhg.2012.195","article-title":"Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria","volume":"21","author":"Poirier","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180328164257_awu082-B40","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1111\/j.1469-8749.2012.04316.x","article-title":"A novel mutation in the beta-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance","volume":"54","author":"Romaniello","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B41","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1055\/s-2001-19120","article-title":"Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations","volume":"32","author":"Ross","year":"2001","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20180328164257_awu082-B42","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.pediatrneurol.2011.11.017","article-title":"TUBA1A mutation-associated lissencephaly: case report and review of the literature","volume":"46","author":"Sohal","year":"2012","journal-title":"Pediatric Neurol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B43","first-page":"788","article-title":"The changing MR imaging appearance of polymicrogyria: a consequence of myelination","volume":"24","author":"Takanashi","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"key":"key\n\t\t\t\t20180328164257_awu082-B44","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.cell.2009.12.011","article-title":"Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance","volume":"140","author":"Tischfield","year":"2010","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180328164257_awu082-B45","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.gde.2011.01.003","article-title":"Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations","volume":"21","author":"Tischfield","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"key\n\t\t\t\t20180328164257_awu082-B46","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/j.ejpn.2012.12.006","article-title":"Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis","volume":"17","author":"Zanni","year":"2013","journal-title":"Eur J Paediatric Neurol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/137\/6\/1676\/13797957\/awu082.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,29]],"date-time":"2018-03-29T01:35:12Z","timestamp":1522287312000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/137\/6\/1676\/340334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,22]]},"references-count":46,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2014,5,22]]},"published-print":{"date-parts":[[2014,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awu082","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published-other":{"date-parts":[[2014,6]]},"published":{"date-parts":[[2014,5,22]]}}}