{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:08:24Z","timestamp":1790064504357,"version":"4.0.1"},"reference-count":37,"publisher":"Oxford University Press (OUP)","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.1093\/jnen\/nlw124","type":"journal-article","created":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T18:44:30Z","timestamp":1489171470000},"source":"Crossref","is-referenced-by-count":6,"title":["Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations"],"prefix":"10.1093","author":[{"given":"Annie","family":"Laquerriere","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Maillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Cavallin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Chapon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Marguet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Molin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Sigaudy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Blouet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Benoist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Poirier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,3,10]]},"reference":[{"key":"key\n\t\t\t\t20170315215659_nlw124-B1","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","year":"2012","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B2","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/2051-5960-2-69","article-title":"Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly","volume":"2","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B3","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/S1474-4422(14)70040-7","article-title":"Malformations of cortical development: clinical features and genetic causes","volume":"13","year":"2014","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B4","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","year":"2013","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B5","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1093\/brain\/awu082","article-title":"The wide spectrum of tubulinopathies: what are the key features for the diagnosis?","volume":"137","year":"2014","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B6","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1097\/NEN.0b013e31821ccf1c","article-title":"Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization","volume":"70","year":"2011","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B7","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.nmd.2008.04.016","article-title":"Autosomal dominant congenital spinal muscular atrophy\u2014a possible developmental deficiency of motor neurons?","volume":"18","year":"2008","journal-title":"Neuromusc Dis"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B8","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.ajhg.2011.07.002","article-title":"Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot\u2013Marie\u2013Tooth disease","volume":"89","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B9","doi-asserted-by":"crossref","first-page":"1714","DOI":"10.1212\/WNL.0b013e3182556c05","article-title":"Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy","volume":"78","year":"2012","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B10","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s10048-012-0337-6","article-title":"A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance","volume":"13","year":"2012","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B11","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1002\/humu.22491","article-title":"Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development","volume":"35","year":"2014","journal-title":"Hum Mut"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B12","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.pcl.2015.03.002","article-title":"Genomic variants and variations in malformations of cortical development","volume":"62","year":"2015","journal-title":"Ped Clin North Am"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B13","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/ejhg.2015.192","article-title":"Mosaic parental germline mutations causing recurrent forms of malformations of cortical development","volume":"24","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B14","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/nature10955","article-title":"The 2.8\u2009\u00c5 crystal structure of the dynein motor domain","volume":"484","year":"2012","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B15","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1007\/s10024-002-0036-7","article-title":"Organ weights in human fetuses after formalin fixation: standards by gestational age and body weight","volume":"5","year":"2002","journal-title":"Ped Devel Pathol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0378-3782(90)90126-4","article-title":"Differential growth between the fetal brain and its infratentorial part","volume":"23","year":"1990","journal-title":"Early Hum Devel"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B17","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","year":"2010","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B18","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.cell.2014.10.018","article-title":"Allosteric communication in the dynein motor domain","volume":"159","year":"2014","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B19","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.bbamcr.2011.06.014","article-title":"Structure and function of the AAA+ nucleotide binding pocket","volume":"1823","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B20","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/ncb2420","article-title":"Multiple modes of cytoplasmic dynein regulation","volume":"14","year":"2012","journal-title":"Nat Cell Biol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B21","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nrm3667","article-title":"Functions and mechanics of dynein motor proteins","volume":"14","year":"2013","journal-title":"Nat Rev Mol Cell Biol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B22","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.devcel.2011.06.012","article-title":"Mitotic spindle orientation in asymmetric and symmetric cell divisions during animal development","volume":"21","year":"2011","journal-title":"Dev Cell"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B23","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.15252\/embr.201642292","article-title":"Regulation of mitotic spindle orientation: an integrated view","volume":"17","year":"2016","journal-title":"EMBO Rep"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B24","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1242\/jcs.115030","article-title":"Microtubule-based transport \u2013 basic mechanisms, traffic rules and role in neurological pathogenesis","volume":"126","year":"2013","journal-title":"J Cell Sci"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B25","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1126\/science.1164424","article-title":"Structure and functional role of dynein's microtubule-binding domain","volume":"322","year":"2008","journal-title":"Science"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B26","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1136\/jmedgenet-2011-100542","article-title":"Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects","volume":"49","year":"2012","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B27","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.mgene.2016.05.004","article-title":"A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract","volume":"9","year":"2016","journal-title":"Meta Gene"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B28","doi-asserted-by":"crossref","first-page":"340","DOI":"10.5414\/NP300638","article-title":"Clinical neuropathology practice guide 5-2013: markers of neuronal maturation","volume":"32","year":"2013","journal-title":"Clin Neuropathol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B29","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/s40478-014-0080-3","article-title":"Polymicrogyria: pathology, fetal origins and mechanisms","volume":"2","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B30","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1126\/science.1092780","article-title":"G protein-coupled receptor-dependent development of human frontal cortex","volume":"303","year":"2004","journal-title":"Science"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B31","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","year":"2009","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B32","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00401-010-0714-x","article-title":"Focal cortical dysplasias: clinical implication of neuropathological classification systems","volume":"120","year":"2010","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B33","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.cell.2010.02.035","article-title":"LIS1 and NudE induce a persistent dynein force-producing state","volume":"141","year":"2010","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B34","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]","volume":"88","year":"2011","journal-title":"Am J Hum Gen"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B35","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/humu.22744","article-title":"Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies","volume":"36","year":"2015","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B36","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1212\/WNL.0000000000001269","article-title":"Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy","volume":"84","year":"2015","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170315215659_nlw124-B37","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1007\/s00415-015-7727-2","article-title":"Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1","volume":"262","year":"2015","journal-title":"J Neurol"}],"container-title":["Journal of Neuropathology & Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jnen\/article-pdf\/76\/3\/195\/11008377\/nlw124.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T19:45:47Z","timestamp":1503603947000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnen\/article\/3065807\/Neuropathological"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,10]]},"references-count":37,"URL":"https:\/\/doi.org\/10.1093\/jnen\/nlw124","relation":{},"ISSN":["0022-3069","1554-6578"],"issn-type":[{"value":"0022-3069","type":"print"},{"value":"1554-6578","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,10]]}}}