{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T10:08:20Z","timestamp":1792490900554,"version":"4.5.0"},"reference-count":81,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T00:00:00Z","timestamp":1704758400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T00:00:00Z","timestamp":1704758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["108-2638-B-010-001-MY2"],"award-info":[{"award-number":["108-2638-B-010-001-MY2"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["108-2321-B-010-011-MY2"],"award-info":[{"award-number":["108-2321-B-010-011-MY2"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["110-2628-B-A49A-506"],"award-info":[{"award-number":["110-2628-B-A49A-506"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["111-2628-B-A49-016"],"award-info":[{"award-number":["111-2628-B-A49-016"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["112-2628-B-A49-005"],"award-info":[{"award-number":["112-2628-B-A49-005"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["112-2314-B-A49-075"],"award-info":[{"award-number":["112-2314-B-A49-075"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["110-2314-B-182-057-MY3"],"award-info":[{"award-number":["110-2314-B-182-057-MY3"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["110-2314-B-182A-076-MY3"],"award-info":[{"award-number":["110-2314-B-182A-076-MY3"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004737","name":"National Health Research Institutes","doi-asserted-by":"publisher","award":["NHRI-EX109-10904NI"],"award-info":[{"award-number":["NHRI-EX109-10904NI"]}],"id":[{"id":"10.13039\/501100004737","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010002","name":"Ministry of Education","doi-asserted-by":"publisher","award":["Higher Education Sprout Project"],"award-info":[{"award-number":["Higher Education Sprout Project"]}],"id":[{"id":"10.13039\/100010002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004737","name":"National Health Research Institutes","doi-asserted-by":"crossref","award":["NHRI-EX111-11022NI"],"award-info":[{"award-number":["NHRI-EX111-11022NI"]}],"id":[{"id":"10.13039\/501100004737","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004606","name":"Chang Gung Medical Foundation","doi-asserted-by":"publisher","award":["CMRPG8K0632"],"award-info":[{"award-number":["CMRPG8K0632"]}],"id":[{"id":"10.13039\/501100004606","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004606","name":"Chang Gung Medical Foundation","doi-asserted-by":"publisher","award":["CMRP8L1331"],"award-info":[{"award-number":["CMRP8L1331"]}],"id":[{"id":"10.13039\/501100004606","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004606","name":"Chang Gung Medical Foundation","doi-asserted-by":"publisher","award":["CMRPG8M1091"],"award-info":[{"award-number":["CMRPG8M1091"]}],"id":[{"id":"10.13039\/501100004606","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Yang Ming Chiao Tung University"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The development of the cerebral cortex involves a series of dynamic events, including cell proliferation and migration, which rely on the motor protein dynein and its regulators NDE1 and NDEL1. While the loss of function in NDE1 leads to microcephaly-related malformations of cortical development (MCDs),\n                    <jats:italic>NDEL1<\/jats:italic>\n                    variants have not been detected in MCD patients. Here, we identified two patients with pachygyria, with or without subcortical band heterotopia (SBH), carrying the same de novo somatic mosaic\n                    <jats:italic>NDEL1<\/jats:italic>\n                    variant, p.Arg105Pro (p.R105P). Through single-cell RNA sequencing and spatial transcriptomic analysis, we observed complementary expression of\n                    <jats:italic>Nde1<\/jats:italic>\n                    \/\n                    <jats:italic>NDE1<\/jats:italic>\n                    and\n                    <jats:italic>Ndel1<\/jats:italic>\n                    \/\n                    <jats:italic>NDEL1<\/jats:italic>\n                    in neural progenitors and post-mitotic neurons, respectively.\n                    <jats:italic>Ndel1<\/jats:italic>\n                    knockdown by in utero electroporation resulted in impaired neuronal migration, a phenotype that could not be rescued by p.R105P. Remarkably, p.R105P expression alone strongly disrupted neuronal migration, increased the length of the leading process, and impaired nucleus\u2013centrosome coupling, suggesting a failure in nucleokinesis. Mechanistically, p.R105P disrupted NDEL1 binding to the dynein regulator LIS1. This study identifies the first lissencephaly-associated\n                    <jats:italic>NDEL1<\/jats:italic>\n                    variant and sheds light on the distinct roles of NDE1 and NDEL1 in nucleokinesis and MCD pathogenesis.\n                  <\/jats:p>","DOI":"10.1007\/s00401-023-02665-y","type":"journal-article","created":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T11:02:29Z","timestamp":1704798149000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations"],"prefix":"10.1007","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4570-5712","authenticated-orcid":false,"given":"Meng-Han","family":"Tsai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Chen","family":"Ke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Cian","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang-Shin","family":"Nian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Wei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haw-Yuan","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi-Sin","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Granata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Hui","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Castellotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-Yi","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio M.","family":"Doniselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng-Ju","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ragona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Shan","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Canafoglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Yi","family":"Tung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Hsuan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won-Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0135-759X","authenticated-orcid":false,"given":"Jin-Wu","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,9]]},"reference":[{"key":"2665_CR1","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1212\/01.wnl.0000042091.90361.d2","volume":"60","author":"L Aigner","year":"2003","unstructured":"Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D et al (2003) Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. Neurology 60:329\u2013332. https:\/\/doi.org\/10.1212\/01.wnl.0000042091.90361.d2","journal-title":"Neurology"},{"key":"2665_CR2","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","volume":"88","author":"FS Alkuraya","year":"2011","unstructured":"Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM et al (2011) Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet 88:536\u2013547. https:\/\/doi.org\/10.1016\/j.ajhg.2011.04.003","journal-title":"Am J Hum Genet"},{"key":"2665_CR3","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab003","author":"J Alquicira-Hernandez","year":"2021","unstructured":"Alquicira-Hernandez J, Powell JE (2021) Nebulosa recovers single cell gene expression signals by kernel density estimation. Bioinformatics. https:\/\/doi.org\/10.1093\/bioinformatics\/btab003","journal-title":"Bioinformatics"},{"key":"2665_CR4","doi-asserted-by":"publisher","first-page":"5101","DOI":"10.1111\/j.1742-4658.2005.04945.x","volume":"272","author":"SF Altschul","year":"2005","unstructured":"Altschul SF, Wootton JC, Gertz EM, Agarwala R, Morgulis A, Sch\u00e4ffer AA et al (2005) Protein database searches using compositionally adjusted substitution matrices. Febs j 272:5101\u20135109. https:\/\/doi.org\/10.1111\/j.1742-4658.2005.04945.x","journal-title":"Febs j"},{"key":"2665_CR5","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1016\/j.ajhg.2011.03.019","volume":"88","author":"M Bakircioglu","year":"2011","unstructured":"Bakircioglu M, Carvalho O, Khurshid M, Cox J, Tuysuz B, Barak T et al (2011) The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet 88:523\u2013535. https:\/\/doi.org\/10.1016\/j.ajhg.2011.03.019","journal-title":"Am J Hum Genet"},{"key":"2665_CR6","doi-asserted-by":"publisher","first-page":"5691","DOI":"10.1523\/jneurosci.1030-05.2005","volume":"25","author":"A Bellion","year":"2005","unstructured":"Bellion A, Baudoin JP, Alvarez C, Bornens M, M\u00e9tin C (2005) Nucleokinesis in tangentially migrating neurons comprises two alternating phases: forward migration of the Golgi\/centrosome associated with centrosome splitting and myosin contraction at the rear. J Neurosci 25:5691\u20135699. https:\/\/doi.org\/10.1523\/jneurosci.1030-05.2005","journal-title":"J Neurosci"},{"key":"2665_CR7","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1038\/s41586-021-03910-8","volume":"598","author":"A Bhaduri","year":"2021","unstructured":"Bhaduri A, Sandoval-Espinosa C, Otero-Garcia M, Oh I, Yin R, Eze UC et al (2021) An atlas of cortical arealization identifies dynamic molecular signatures. Nature 598:200\u2013204. https:\/\/doi.org\/10.1038\/s41586-021-03910-8","journal-title":"Nature"},{"key":"2665_CR8","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1007\/s00018-016-2395-7","volume":"74","author":"NJ Bradshaw","year":"2017","unstructured":"Bradshaw NJ, Hayashi MA (2017) NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness. Cell Mol Life Sci 74:1191\u20131210. https:\/\/doi.org\/10.1007\/s00018-016-2395-7","journal-title":"Cell Mol Life Sci"},{"key":"2665_CR9","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1515\/bmc-2013-0023","volume":"4","author":"NJ Bradshaw","year":"2013","unstructured":"Bradshaw NJ, Hennah W, Soares DC (2013) NDE1 and NDEL1: twin neurodevelopmental proteins with similar \u2018nature\u2019 but different \u2018nurture.\u2019 Biomol Concepts 4:447\u2013464. https:\/\/doi.org\/10.1515\/bmc-2013-0023","journal-title":"Biomol Concepts"},{"key":"2665_CR10","doi-asserted-by":"publisher","first-page":"4775","DOI":"10.1073\/pnas.93.10.4775","volume":"93","author":"KS Bruno","year":"1996","unstructured":"Bruno KS, Tinsley JH, Minke PF, Plamann M (1996) Genetic interactions among cytoplasmic dynein, dynactin, and nuclear distribution mutants of Neurospora crassa. Proc Natl Acad Sci U S A 93:4775\u20134780. https:\/\/doi.org\/10.1073\/pnas.93.10.4775","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2665_CR11","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1038\/s41586-019-1338-5","volume":"571","author":"M Cardoso-Moreira","year":"2019","unstructured":"Cardoso-Moreira M, Halbert J, Valloton D, Velten B, Chen C, Shao Y et al (2019) Gene expression across mammalian organ development. Nature 571:505\u2013509. https:\/\/doi.org\/10.1038\/s41586-019-1338-5","journal-title":"Nature"},{"key":"2665_CR12","doi-asserted-by":"publisher","first-page":"1777","DOI":"10.1016\/j.cell.2022.04.003","volume":"185","author":"A Chen","year":"2022","unstructured":"Chen A, Liao S, Cheng M, Ma K, Wu L, Lai Y et al (2022) Spatiotemporal transcriptomic atlas of mouse organogenesis using DNA nanoball-patterned arrays. Cell 185:1777\u20131792. https:\/\/doi.org\/10.1016\/j.cell.2022.04.003","journal-title":"Cell"},{"key":"2665_CR13","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1093\/cercor\/bhx356","volume":"29","author":"JL Chen","year":"2019","unstructured":"Chen JL, Chang CH, Tsai JW (2019) Gli2 rescues delays in brain development Induced by Kif3a dysfunction. Cereb Cortex 29:751\u2013764. https:\/\/doi.org\/10.1093\/cercor\/bhx356","journal-title":"Cereb Cortex"},{"key":"2665_CR14","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081208","author":"G Contro","year":"2021","unstructured":"Contro G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S et al (2021) Posterior lissencephaly associated with subcortical band heterotopia due to a variation in the CEP85L gene: a case report and refining of the phenotypic spectrum. Genes (Basel). https:\/\/doi.org\/10.3390\/genes12081208","journal-title":"Genes (Basel)"},{"key":"2665_CR15","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1002\/cm.21293","volume":"73","author":"TJ Dantas","year":"2016","unstructured":"Dantas TJ, Carabalona A, Hu DJ, Vallee RB (2016) Emerging roles for motor proteins in progenitor cell behavior and neuronal migration during brain development. Cytoskeleton (Hoboken) 73:566\u2013576. https:\/\/doi.org\/10.1002\/cm.21293","journal-title":"Cytoskeleton (Hoboken)"},{"key":"2665_CR16","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1016\/j.cell.2008.07.017","volume":"134","author":"F Del Bene","year":"2008","unstructured":"Del Bene F, Wehman AM, Link BA, Baier H (2008) Regulation of neurogenesis by interkinetic nuclear migration through an apical-basal notch gradient. Cell 134:1055\u20131065. https:\/\/doi.org\/10.1016\/j.cell.2008.07.017","journal-title":"Cell"},{"key":"2665_CR17","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.1016\/j.str.2007.09.015","volume":"15","author":"U Derewenda","year":"2007","unstructured":"Derewenda U, Tarricone C, Choi WC, Cooper DR, Lukasik S, Perrina F et al (2007) The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly. Structure 15:1467\u20131481. https:\/\/doi.org\/10.1016\/j.str.2007.09.015","journal-title":"Structure"},{"key":"2665_CR18","doi-asserted-by":"publisher","first-page":"12551","DOI":"10.1038\/ncomms12551","volume":"7","author":"DJ Doobin","year":"2016","unstructured":"Doobin DJ, Kemal S, Dantas TJ, Vallee RB (2016) Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages. Nat Commun 7:12551. https:\/\/doi.org\/10.1038\/ncomms12551","journal-title":"Nat Commun"},{"key":"2665_CR19","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1083\/jcb.150.3.681","volume":"150","author":"VP Efimov","year":"2000","unstructured":"Efimov VP, Morris NR (2000) The Lis1-related nudf protein of aspergillus nidulans interacts with the coiled-coil domain of the Nude\/Ro11 protein. J Cell Biol 150:681\u2013688. https:\/\/doi.org\/10.1083\/jcb.150.3.681","journal-title":"J Cell Biol"},{"key":"2665_CR20","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1016\/s0896-6273(00)00145-8","volume":"28","author":"Y Feng","year":"2000","unstructured":"Feng Y, Olson EC, Stukenberg PT, Flanagan LA, Kirschner MW, Walsh CA (2000) LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron 28:665\u2013679. https:\/\/doi.org\/10.1016\/s0896-6273(00)00145-8","journal-title":"Neuron"},{"key":"2665_CR21","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.neuron.2004.09.023","volume":"44","author":"Y Feng","year":"2004","unstructured":"Feng Y, Walsh CA (2004) Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron 44:279\u2013293. https:\/\/doi.org\/10.1016\/j.neuron.2004.09.023","journal-title":"Neuron"},{"key":"2665_CR22","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.3174\/ajnr.A2542","volume":"32","author":"C Garel","year":"2011","unstructured":"Garel C, Cont I, Alberti C, Josserand E, Moutard ML, Ducou le Pointe H (2011) Biometry of the corpus callosum in children: MR imaging reference data. AJNR Am J Neuroradiol 32:1436\u20131443. https:\/\/doi.org\/10.3174\/ajnr.A2542","journal-title":"AJNR Am J Neuroradiol"},{"key":"2665_CR23","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1091\/mbc.e05-04-0360","volume":"17","author":"J Guo","year":"2006","unstructured":"Guo J, Yang Z, Song W, Chen Q, Wang F, Zhang Q et al (2006) Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly. Mol Biol Cell 17:680\u2013689. https:\/\/doi.org\/10.1091\/mbc.e05-04-0360","journal-title":"Mol Biol Cell"},{"key":"2665_CR24","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s10048-012-0326-9","volume":"13","author":"A Guven","year":"2012","unstructured":"Guven A, Gunduz A, Bozoglu T, Yal\u00e7inkaya C, Tolun A (2012) Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics 13:189\u2013194. https:\/\/doi.org\/10.1007\/s10048-012-0326-9","journal-title":"Neurogenetics"},{"key":"2665_CR25","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/s13073-017-0467-4","volume":"9","author":"A Haque","year":"2017","unstructured":"Haque A, Engel J, Teichmann SA, L\u00f6nnberg T (2017) A practical guide to single-cell RNA-sequencing for biomedical research and clinical applications. Genome Medicine 9:75. https:\/\/doi.org\/10.1186\/s13073-017-0467-4","journal-title":"Genome Medicine"},{"key":"2665_CR26","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1038\/370216a0","volume":"370","author":"M Hattori","year":"1994","unstructured":"Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K (1994) Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. Nature 370:216\u2013218. https:\/\/doi.org\/10.1038\/370216a0","journal-title":"Nature"},{"key":"2665_CR27","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/j.neuron.2010.09.027","volume":"68","author":"S Hippenmeyer","year":"2010","unstructured":"Hippenmeyer S, Youn YH, Moon HM, Miyamichi K, Zong H, Wynshaw-Boris A et al (2010) Genetic mosaic dissection of Lis1 and Ndel1 in neuronal migration. Neuron 68:695\u2013709. https:\/\/doi.org\/10.1016\/j.neuron.2010.09.027","journal-title":"Neuron"},{"key":"2665_CR28","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12890","author":"CW Huang","year":"2023","unstructured":"Huang CW, Lee KY, Lin PT, Nian FS, Cheng HY, Chang CH et al (2023) Muscleblind-Like 2 knockout shifts adducin 1 isoform expression and alters dendritic spine dynamics of cortical neurons during brain development. Neuropathol Appl Neurobiol. https:\/\/doi.org\/10.1111\/nan.12890","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2665_CR29","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1016\/j.cell.2012.07.022","volume":"150","author":"J Huang","year":"2012","unstructured":"Huang J, Roberts AJ, Leschziner AE, Reck-Peterson SL (2012) Lis1 acts as a \u201cclutch\u201d between the ATPase and microtubule-binding domains of the dynein motor. Cell 150:975\u2013986. https:\/\/doi.org\/10.1016\/j.cell.2012.07.022","journal-title":"Cell"},{"issue":"246\u2013255","key":"2665_CR30","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2020.01.030","volume":"106","author":"A Kodani","year":"2020","unstructured":"Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM et al (2020) Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole-dependent activation of CDK5. Neuron 106(246\u2013255):e246. https:\/\/doi.org\/10.1016\/j.neuron.2020.01.030","journal-title":"Neuron"},{"key":"2665_CR31","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/s0925-4773(01)00396-3","volume":"105","author":"C Lambert de Rouvroit","year":"2001","unstructured":"Lambert de Rouvroit C, Goffinet AM (2001) Neuronal migration. Mech Dev 105:47\u201356. https:\/\/doi.org\/10.1016\/s0925-4773(01)00396-3","journal-title":"Mech Dev"},{"key":"2665_CR32","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1093\/jnen\/nlw124","volume":"76","author":"A Laquerriere","year":"2017","unstructured":"Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A et al (2017) Neuropathological hallmarks of brain malformations in extreme phenotypes related to DYNC1H1 mutations. J Neuropathol Exp Neurol 76:195\u2013205. https:\/\/doi.org\/10.1093\/jnen\/nlw124","journal-title":"J Neuropathol Exp Neurol"},{"key":"2665_CR33","doi-asserted-by":"publisher","first-page":"2878","DOI":"10.1002\/ajmg.a.63380","volume":"191","author":"H Leduc-Pessah","year":"2023","unstructured":"Leduc-Pessah H, White-Brown A, Miller E, McMillan HJ, Boycott KM (2023) Further characterization of CEP85L-associated lissencephaly type 10: report of a three-generation family and review of the literature. Am J Med Genet A 191:2878\u20132883. https:\/\/doi.org\/10.1002\/ajmg.a.63380","journal-title":"Am J Med Genet A"},{"key":"2665_CR34","doi-asserted-by":"publisher","first-page":"10096","DOI":"10.1073\/pnas.90.21.10096","volume":"90","author":"YY Li","year":"1993","unstructured":"Li YY, Yeh E, Hays T, Bloom K (1993) Disruption of mitotic spindle orientation in a yeast dynein mutant. Proc Natl Acad Sci U S A 90:10096\u201310100. https:\/\/doi.org\/10.1073\/pnas.90.21.10096","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2665_CR35","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1083\/jcb.200308058","volume":"164","author":"Y Liang","year":"2004","unstructured":"Liang Y, Yu W, Li Y, Yang Z, Yan X, Huang Q et al (2004) Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein. J Cell Biol 164:557\u2013566. https:\/\/doi.org\/10.1083\/jcb.200308058","journal-title":"J Cell Biol"},{"key":"2665_CR36","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1111\/epi.17198","volume":"63","author":"JR Lin","year":"2022","unstructured":"Lin JR, Cheng JF, Liu YT, Hsu TR, Lin KM, Chen C et al (2022) Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics. Epilepsia 63:1253\u20131265. https:\/\/doi.org\/10.1111\/epi.17198","journal-title":"Epilepsia"},{"key":"2665_CR37","doi-asserted-by":"publisher","first-page":"2498","DOI":"10.1038\/s41467-018-04880-8","volume":"9","author":"IL Lu","year":"2018","unstructured":"Lu IL, Chen C, Tung CY, Chen HH, Pan JP, Chang CH et al (2018) Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen in mice. Nat Commun 9:2498. https:\/\/doi.org\/10.1038\/s41467-018-04880-8","journal-title":"Nat Commun"},{"key":"2665_CR38","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.cell.2011.06.030","volume":"146","author":"JH Lui","year":"2011","unstructured":"Lui JH, Hansen DV, Kriegstein AR (2011) Development and evolution of the human neocortex. Cell 146:18\u201336. https:\/\/doi.org\/10.1016\/j.cell.2011.06.030","journal-title":"Cell"},{"key":"2665_CR39","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/j.cell.2010.02.035","volume":"141","author":"RJ McKenney","year":"2010","unstructured":"McKenney RJ, Vershinin M, Kunwar A, Vallee RB, Gross SP (2010) LIS1 and NudE induce a persistent dynein force-producing state. Cell 141:304\u2013314. https:\/\/doi.org\/10.1016\/j.cell.2010.02.035","journal-title":"Cell"},{"key":"2665_CR40","doi-asserted-by":"publisher","first-page":"39615","DOI":"10.1074\/jbc.M111.289017","volume":"286","author":"RJ McKenney","year":"2011","unstructured":"McKenney RJ, Weil SJ, Scherer J, Vallee RB (2011) Mutually exclusive cytoplasmic dynein regulation by NudE-Lis1 and dynactin. J Biol Chem 286:39615\u201339622. https:\/\/doi.org\/10.1074\/jbc.M111.289017","journal-title":"J Biol Chem"},{"key":"2665_CR41","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1046\/j.1365-2958.1999.01421.x","volume":"32","author":"PF Minke","year":"1999","unstructured":"Minke PF, Lee IH, Tinsley JH, Bruno KS, Plamann M (1999) Neurospora crassa ro-10 and ro-11 genes encode novel proteins required for nuclear distribution. Mol Microbiol 32:1065\u20131076. https:\/\/doi.org\/10.1046\/j.1365-2958.1999.01421.x","journal-title":"Mol Microbiol"},{"key":"2665_CR42","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1016\/j.neuron.2014.12.014","volume":"84","author":"K Mishra-Gorur","year":"2014","unstructured":"Mishra-Gorur K, Caglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F et al (2014) Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84:1226\u20131239. https:\/\/doi.org\/10.1016\/j.neuron.2014.12.014","journal-title":"Neuron"},{"key":"2665_CR43","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.seizure.2022.10.018","volume":"103","author":"PB Moloney","year":"2022","unstructured":"Moloney PB, Benson KA, Phelan E, O\u2019Regan M, Redmond J (2022) Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation. Seizure 103:58\u201360. https:\/\/doi.org\/10.1016\/j.seizure.2022.10.018","journal-title":"Seizure"},{"key":"2665_CR44","doi-asserted-by":"publisher","first-page":"6095","DOI":"10.1007\/s12035-019-1471-z","volume":"56","author":"FS Nian","year":"2019","unstructured":"Nian FS, Li LL, Cheng CY, Wu PC, Lin YT, Tang CY et al (2019) Rab18 collaborates with Rab7 to modulate lysosomal and autophagy activities in the nervous system: an overlapping mechanism for warburg micro syndrome and charcot-marie-tooth neuropathy Type 2B. Mol Neurobiol 56:6095\u20136105. https:\/\/doi.org\/10.1007\/s12035-019-1471-z","journal-title":"Mol Neurobiol"},{"key":"2665_CR45","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1016\/s0896-6273(00)00147-1","volume":"28","author":"M Niethammer","year":"2000","unstructured":"Niethammer M, Smith DS, Ayala R, Peng J, Ko J, Lee MS et al (2000) NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Neuron 28:697\u2013711. https:\/\/doi.org\/10.1016\/s0896-6273(00)00147-1","journal-title":"Neuron"},{"key":"2665_CR46","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1002\/ajmg.a.35969","volume":"161","author":"AR Paciorkowski","year":"2013","unstructured":"Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL et al (2013) Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A 161:1523\u20131530. https:\/\/doi.org\/10.1002\/ajmg.a.35969","journal-title":"Am J Med Genet A"},{"key":"2665_CR47","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35969","author":"AR Paciorkowski","year":"2013","unstructured":"Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL et al (2013) Deletion 16p1311 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. https:\/\/doi.org\/10.1002\/ajmg.a.35969","journal-title":"Am J Med Genet A"},{"key":"2665_CR48","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001172","volume":"9","author":"AS Pawlisz","year":"2011","unstructured":"Pawlisz AS, Feng Y (2011) Three-dimensional regulation of radial glial functions by Lis1-Nde1 and dystrophin glycoprotein complexes. PLoS Biol 9:e1001172. https:\/\/doi.org\/10.1371\/journal.pbio.1001172","journal-title":"PLoS Biol"},{"key":"2665_CR49","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1083\/jcb.127.1.139","volume":"127","author":"M Plamann","year":"1994","unstructured":"Plamann M, Minke PF, Tinsley JH, Bruno KS (1994) Cytoplasmic dynein and actin-related protein Arp1 are required for normal nuclear distribution in filamentous fungi. J Cell Biol 127:139\u2013149. https:\/\/doi.org\/10.1083\/jcb.127.1.139","journal-title":"J Cell Biol"},{"key":"2665_CR50","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1007\/s10048-012-0339-4","volume":"13","author":"C Quelin","year":"2012","unstructured":"Quelin C, Saillour Y, Souville I, Poirier K, N\u2019Guyen-Morel MA, Vercueil L et al (2012) Mosaic DCX deletion causes subcortical band heterotopia in males. Neurogenetics 13:367\u2013373. https:\/\/doi.org\/10.1007\/s10048-012-0339-4","journal-title":"Neurogenetics"},{"key":"2665_CR51","doi-asserted-by":"publisher","first-page":"7812","DOI":"10.1128\/MCB.25.17.7812-7827.2005","volume":"25","author":"S Sasaki","year":"2005","unstructured":"Sasaki S, Mori D, Toyo-oka K, Chen A, Garrett-Beal L, Muramatsu M et al (2005) Complete loss of Ndel1 results in neuronal migration defects and early embryonic lethality. Mol Cell Biol 25:7812\u20137827. https:\/\/doi.org\/10.1128\/MCB.25.17.7812-7827.2005","journal-title":"Mol Cell Biol"},{"key":"2665_CR52","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/s0079-6123(03)43036-7","volume":"143","author":"S Sasaki","year":"2004","unstructured":"Sasaki S, Yoshimura K, Naito K (2004) The neural control of orienting: role of multiple-branching reticulospinal neurons. Prog Brain Res 143:383\u2013389. https:\/\/doi.org\/10.1016\/s0079-6123(03)43036-7","journal-title":"Prog Brain Res"},{"key":"2665_CR53","doi-asserted-by":"publisher","first-page":"13652","DOI":"10.1073\/pnas.0506008102","volume":"102","author":"BT Schaar","year":"2005","unstructured":"Schaar BT, McConnell SK (2005) Cytoskeletal coordination during neuronal migration. Proc Natl Acad Sci U S A 102:13652\u201313657. https:\/\/doi.org\/10.1073\/pnas.0506008102","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2665_CR54","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.neuron.2004.09.030","volume":"44","author":"T Shu","year":"2004","unstructured":"Shu T, Ayala R, Nguyen MD, Xie Z, Gleeson JG, Tsai LH (2004) Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron 44:263\u2013277. https:\/\/doi.org\/10.1016\/j.neuron.2004.09.030","journal-title":"Neuron"},{"key":"2665_CR55","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1212\/wnl.61.8.1042","volume":"61","author":"F Sicca","year":"2003","unstructured":"Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F et al (2003) Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 61:1042\u20131046. https:\/\/doi.org\/10.1212\/wnl.61.8.1042","journal-title":"Neurology"},{"key":"2665_CR56","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/msb.2011.75","volume":"7","author":"F Sievers","year":"2011","unstructured":"Sievers F, Wilm A, Dineen D, Gibson TJ, Karplus K, Li W et al (2011) Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol Syst Biol 7:539. https:\/\/doi.org\/10.1038\/msb.2011.75","journal-title":"Mol Syst Biol"},{"key":"2665_CR57","doi-asserted-by":"publisher","first-page":"32381","DOI":"10.1074\/jbc.M112.393439","volume":"287","author":"DC Soares","year":"2012","unstructured":"Soares DC, Bradshaw NJ, Zou J, Kennaway CK, Hamilton RS, Chen ZA et al (2012) The mitosis and neurodevelopment proteins NDE1 and NDEL1 form dimers, tetramers, and polymers with a folded back structure in solution. J Biol Chem 287:32381\u201332393. https:\/\/doi.org\/10.1074\/jbc.M112.393439","journal-title":"J Biol Chem"},{"key":"2665_CR58","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1038\/nn1332","volume":"7","author":"DJ Solecki","year":"2004","unstructured":"Solecki DJ, Model L, Gaetz J, Kapoor TM, Hatten ME (2004) Par6alpha signaling controls glial-guided neuronal migration. Nat Neurosci 7:1195\u20131203. https:\/\/doi.org\/10.1038\/nn1332","journal-title":"Nat Neurosci"},{"key":"2665_CR59","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1083\/jcb.200610112","volume":"178","author":"SA Stehman","year":"2007","unstructured":"Stehman SA, Chen Y, McKenney RJ, Vallee RB (2007) NudE and NudEL are required for mitotic progression and are involved in dynein recruitment to kinetochores. J Cell Biol 178:583\u2013594. https:\/\/doi.org\/10.1083\/jcb.200610112","journal-title":"J Cell Biol"},{"issue":"Suppl 2","key":"2665_CR60","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1186\/s12864-016-2722-2","volume":"17","author":"G Stelzer","year":"2016","unstructured":"Stelzer G, Plaschkes I, Oz-Levi D, Alkelai A, Olender T, Zimmerman S et al (2016) VarElect: the phenotype-based variation prioritizer of the GeneCards Suite. BMC Genomics 17(Suppl 2):444. https:\/\/doi.org\/10.1186\/s12864-016-2722-2","journal-title":"BMC Genomics"},{"key":"2665_CR61","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1186\/s12881-017-0501-9","volume":"18","author":"L Tan","year":"2017","unstructured":"Tan L, Bi B, Zhao P, Cai X, Wan C, Shao J et al (2017) Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review. BMC Med Genet 18:141. https:\/\/doi.org\/10.1186\/s12881-017-0501-9","journal-title":"BMC Med Genet"},{"key":"2665_CR62","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1083\/jcb.200309025","volume":"165","author":"T Tanaka","year":"2004","unstructured":"Tanaka T, Serneo FF, Higgins C, Gambello MJ, Wynshaw-Boris A, Gleeson JG (2004) Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol 165:709\u2013721. https:\/\/doi.org\/10.1083\/jcb.200309025","journal-title":"J Cell Biol"},{"key":"2665_CR63","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1146\/annurev-cellbio-101011-155801","volume":"30","author":"E Taverna","year":"2014","unstructured":"Taverna E, G\u00f6tz M, Huttner WB (2014) The cell biology of neurogenesis: toward an understanding of the development and evolution of the neocortex. Annu Rev Cell Dev Biol 30:465\u2013502. https:\/\/doi.org\/10.1146\/annurev-cellbio-101011-155801","journal-title":"Annu Rev Cell Dev Biol"},{"key":"2665_CR64","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1042\/BSR20100025","volume":"30","author":"M Tischfield","year":"2010","unstructured":"Tischfield M, Engle E (2010) Distinct \u03b1- and \u03b2-tubulin isotypes are required for the positioning, differentiation and survival of neurons: New support for the \u2018multi-tubulin\u2019 hypothesis. Biosci Rep 30:319\u2013330. https:\/\/doi.org\/10.1042\/BSR20100025","journal-title":"Biosci Rep"},{"key":"2665_CR65","doi-asserted-by":"publisher","first-page":"1463","DOI":"10.1038\/nn.2665","volume":"13","author":"J-W Tsai","year":"2010","unstructured":"Tsai J-W, Lian W-N, Kemal S, Kriegstein AR, Vallee RB (2010) Kinesin 3 and cytoplasmic dynein mediate interkinetic nuclear migration in neural stem cells. Nat Neurosci 13:1463\u20131471. https:\/\/doi.org\/10.1038\/nn.2665","journal-title":"Nat Neurosci"},{"key":"2665_CR66","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1038\/nn1934","volume":"10","author":"JW Tsai","year":"2007","unstructured":"Tsai JW, Bremner KH, Vallee RB (2007) Dual subcellular roles for LIS1 and dynein in radial neuronal migration in live brain tissue. Nat Neurosci 10:970\u2013979. https:\/\/doi.org\/10.1038\/nn1934","journal-title":"Nat Neurosci"},{"key":"2665_CR67","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1083\/jcb.200505166","volume":"170","author":"JW Tsai","year":"2005","unstructured":"Tsai JW, Chen Y, Kriegstein AR, Vallee RB (2005) LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages. J Cell Biol 170:935\u2013945. https:\/\/doi.org\/10.1083\/jcb.200505166","journal-title":"J Cell Biol"},{"key":"2665_CR68","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.neuron.2005.04.013","volume":"46","author":"LH Tsai","year":"2005","unstructured":"Tsai LH, Gleeson JG (2005) Nucleokinesis in neuronal migration. Neuron 46:383\u2013388. https:\/\/doi.org\/10.1016\/j.neuron.2005.04.013","journal-title":"Neuron"},{"key":"2665_CR69","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1111\/cge.12992","volume":"92","author":"MH Tsai","year":"2017","unstructured":"Tsai MH, Chan CK, Chang YC, Yu YT, Chuang ST, Fan WL et al (2017) DEPDC5 mutations in familial and sporadic focal epilepsy. Clin Genet 92:397\u2013404. https:\/\/doi.org\/10.1111\/cge.12992","journal-title":"Clin Genet"},{"key":"2665_CR70","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1186\/s40478-020-00971-0","volume":"8","author":"MH Tsai","year":"2020","unstructured":"Tsai MH, Cheng HY, Nian FS, Liu C, Chao NH, Chiang KL et al (2020) Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation. Acta Neuropathol Commun 8:106. https:\/\/doi.org\/10.1186\/s40478-020-00971-0","journal-title":"Acta Neuropathol Commun"},{"key":"2665_CR71","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.neuron.2020.01.027","volume":"106","author":"MH Tsai","year":"2020","unstructured":"Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH et al (2020) Pathogenic variants in CEP85L cause sporadic and familial posterior predominant lissencephaly. Neuron 106:237-245.e238. https:\/\/doi.org\/10.1016\/j.neuron.2020.01.027","journal-title":"Neuron"},{"key":"2665_CR72","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1111\/epi.14725","volume":"60","author":"MH Tsai","year":"2019","unstructured":"Tsai MH, Nian FS, Hsu MH, Liu WS, Liu YT, Liu C et al (2019) PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization. Epilepsia 60:807\u2013817. https:\/\/doi.org\/10.1111\/epi.14725","journal-title":"Epilepsia"},{"key":"2665_CR73","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"key":"2665_CR74","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1038\/nn.2807","volume":"14","author":"X Wang","year":"2011","unstructured":"Wang X, Tsai JW, LaMonica B, Kriegstein AR (2011) A new subtype of progenitor cell in the mouse embryonic neocortex. Nat Neurosci 14:555\u2013561. https:\/\/doi.org\/10.1038\/nn.2807","journal-title":"Nat Neurosci"},{"key":"2665_CR75","doi-asserted-by":"publisher","first-page":"2100","DOI":"10.1073\/pnas.91.6.2100","volume":"91","author":"X Xiang","year":"1994","unstructured":"Xiang X, Beckwith SM, Morris NR (1994) Cytoplasmic dynein is involved in nuclear migration in aspergillus nidulans. Proc Natl Acad Sci U S A 91:2100\u20132104. https:\/\/doi.org\/10.1073\/pnas.91.6.2100","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2665_CR76","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1091\/mbc.6.3.297","volume":"6","author":"X Xiang","year":"1995","unstructured":"Xiang X, Osmani AH, Osmani SA, Xin M, Morris NR (1995) NudF, a nuclear migration gene in aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration. Mol Biol Cell 6:297\u2013310. https:\/\/doi.org\/10.1091\/mbc.6.3.297","journal-title":"Mol Biol Cell"},{"key":"2665_CR77","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1038\/nmeth.3484","volume":"12","author":"H Yang","year":"2015","unstructured":"Yang H, Robinson PN, Wang K (2015) Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nat Methods 12:841\u2013843. https:\/\/doi.org\/10.1038\/nmeth.3484","journal-title":"Nat Methods"},{"key":"2665_CR78","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1128\/mcb.23.1.26-37.2003","volume":"23","author":"HS Yang","year":"2003","unstructured":"Yang HS, Jansen AP, Komar AA, Zheng X, Merrick WC, Costes S et al (2003) The transformation suppressor Pdcd4 is a novel eukaryotic translation initiation factor 4A binding protein that inhibits translation. Mol Cell Biol 23:26\u201337. https:\/\/doi.org\/10.1128\/mcb.23.1.26-37.2003","journal-title":"Mol Cell Biol"},{"key":"2665_CR79","doi-asserted-by":"publisher","first-page":"15520","DOI":"10.1523\/JNEUROSCI.4630-09.2009","volume":"29","author":"YH Youn","year":"2009","unstructured":"Youn YH, Pramparo T, Hirotsune S, Wynshaw-Boris A (2009) Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice. J Neurosci 29:15520\u201315530. https:\/\/doi.org\/10.1523\/JNEUROSCI.4630-09.2009","journal-title":"J Neurosci"},{"key":"2665_CR80","doi-asserted-by":"publisher","first-page":"12944","DOI":"10.1074\/jbc.M111.227744","volume":"286","author":"W Zeng","year":"2011","unstructured":"Zeng W, Horrocks KJ, Robevska G, Wong CY, Azzopardi K, Tauschek M et al (2011) A modular approach to assembly of totally synthetic self-adjuvanting lipopeptide-based vaccines allows conformational epitope building. J Biol Chem 286:12944\u201312951. https:\/\/doi.org\/10.1074\/jbc.M111.227744","journal-title":"J Biol Chem"},{"key":"2665_CR81","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1083\/jcb.201011142","volume":"192","author":"E \u017by\u0142kiewicz","year":"2011","unstructured":"\u017by\u0142kiewicz E, Kija\u0144ska M, Choi W-C, Derewenda U, Derewenda ZS, Stukenberg PT (2011) The N-terminal coiled-coil of Ndel1 is a regulated scaffold that recruits LIS1 to dynein. J Cell Biol 192:433\u2013445. https:\/\/doi.org\/10.1083\/jcb.201011142","journal-title":"J Cell Biol"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-023-02665-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00401-023-02665-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-023-02665-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T11:06:03Z","timestamp":1704798363000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00401-023-02665-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,9]]},"references-count":81,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["2665"],"URL":"https:\/\/doi.org\/10.1007\/s00401-023-02665-y","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,9]]},"assertion":[{"value":"23 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 November 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 November 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 January 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors report no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"13"}}