{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:33:43Z","timestamp":1790660023729,"version":"4.1.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2018,3,21]],"date-time":"2018-03-21T00:00:00Z","timestamp":1521590400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,6,1]]},"DOI":"10.1093\/hmg\/ddy102","type":"journal-article","created":{"date-parts":[[2018,3,20]],"date-time":"2018-03-20T20:20:32Z","timestamp":1521577232000},"page":"1941-1954","source":"Crossref","is-referenced-by-count":59,"title":["Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons"],"prefix":"10.1093","volume":"27","author":[{"given":"Giorgia","family":"Canali","sequence":"first","affiliation":[{"name":"Inserm, UMR-S 839, F-75005 Paris, France"},{"name":"Facult\u00e9 des Sciences et Ing\u00e9nierie, Sorbonne Universit\u00e9, F-75005 Paris, France"},{"name":"Institut du Fer \u00e0 Moulin, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Garcia","sequence":"additional","affiliation":[{"name":"Inserm, UMR-S 839, F-75005 Paris, France"},{"name":"Facult\u00e9 des Sciences et Ing\u00e9nierie, Sorbonne Universit\u00e9, F-75005 Paris, France"},{"name":"Institut du Fer \u00e0 Moulin, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Hivert","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9 \u2013 CNRS, UMR 7286 CRN2M, F-13344 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Pinatel","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9 \u2013 CNRS, UMR 7286 CRN2M, F-13344 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Goullancourt","sequence":"additional","affiliation":[{"name":"Inserm, UMR-S 839, F-75005 Paris, France"},{"name":"Facult\u00e9 des Sciences et Ing\u00e9nierie, Sorbonne Universit\u00e9, F-75005 Paris, France"},{"name":"Institut du Fer \u00e0 Moulin, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ksenia","family":"Oguievetskaia","sequence":"additional","affiliation":[{"name":"Inserm, UMR-S 839, F-75005 Paris, France"},{"name":"Facult\u00e9 des Sciences et Ing\u00e9nierie, Sorbonne Universit\u00e9, F-75005 Paris, France"},{"name":"Institut du Fer \u00e0 Moulin, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Saint-Martin","sequence":"additional","affiliation":[{"name":"CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoG\u00e8ne, Universit\u00e9 Claude Bernard Lyon 1, F-69003 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Antoine","family":"Girault","sequence":"additional","affiliation":[{"name":"Inserm, UMR-S 839, F-75005 Paris, France"},{"name":"Facult\u00e9 des Sciences et Ing\u00e9nierie, Sorbonne Universit\u00e9, F-75005 Paris, France"},{"name":"Institut du Fer \u00e0 Moulin, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Faivre-Sarrailh","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9 \u2013 CNRS, UMR 7286 CRN2M, F-13344 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Goutebroze","sequence":"additional","affiliation":[{"name":"Inserm, UMR-S 839, F-75005 Paris, France"},{"name":"Facult\u00e9 des Sciences et Ing\u00e9nierie, Sorbonne Universit\u00e9, F-75005 Paris, France"},{"name":"Institut du Fer \u00e0 Moulin, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,3,21]]},"reference":[{"key":"key\n\t\t\t\t20180517035555_ddy102-B1","first-page":"36","article-title":"Recent advances in the genetics of autism spectrum disorder","volume":"15","author":"De Rubeis","year":"2015","journal-title":"Curr. Neurol. Neurosci. Rep"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B2","first-page":"103","article-title":"Autism spectrum disorders: developmental disconnection syndromes","volume":"17","author":"Geschwind","year":"2007","journal-title":"Curr. Opin. Neurobiol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B3","first-page":"604","article-title":"Brain connectivity and high functioning autism: a promising path of research that needs refined models, methodological convergence, and stronger behavioral links","volume":"36","author":"Vissers","year":"2012","journal-title":"Neurosci. Biobehav. Rev"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B4","first-page":"223","article-title":"Connectivity in autism: a review of MRI connectivity studies","volume":"23","author":"Rane","year":"2015","journal-title":"Harv. Rev. Psychiatry"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B5","first-page":"359.","article-title":"Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity","volume":"11","author":"Gilbert","year":"2017","journal-title":"Front. Cell. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B6","first-page":"532","article-title":"Axon guidance proteins in neurological disorders","volume":"14","author":"Van Battum","year":"2015","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B7","first-page":"671.","article-title":"Evidence for dysregulation of axonal growth and guidance in the etiology of ASD","volume":"7","author":"McFadden","year":"2013","journal-title":"Front. Hum. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B8","first-page":"171","article-title":"Shining a light on CNTNAP2: complex functions to complex disorders","volume":"22","author":"Rodenas-Cuadrado","year":"2014","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B9","first-page":"156","article-title":"What does CNTNAP2 reveal about autism spectrum disorder?","volume":"18","author":"Penagarikano","year":"2012","journal-title":"Trends Mol. Med"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B10","first-page":"7","article-title":"Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders","volume":"6","author":"Poot","year":"2015","journal-title":"Mol. Syndromol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B11","first-page":"1149","article-title":"Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1","volume":"162","author":"Poliak","year":"2003","journal-title":"J. Cell. Biol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B12","first-page":"1161","article-title":"Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers","volume":"162","author":"Traka","year":"2003","journal-title":"J. Cell. Biol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B13","first-page":"1037","article-title":"Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels","volume":"24","author":"Poliak","year":"1999","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B14","article-title":"Loss of Cntnap2 causes axonal excitability deficits, developmental delay in cortical myelination, and abnormal stereotyped motor behavior","author":"Scott","year":"2017","journal-title":"Cereb. Cortex"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B15","first-page":"1","article-title":"Mouse Cntnap2 and human CNTNAP2 ASD alleles cell autonomously regulate PV+ cortical interneurons","volume":"28","author":"Vogt","year":"2017","journal-title":"Cereb. Cortex"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B16","first-page":"235","article-title":"Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits","volume":"147","author":"Penagarikano","year":"2011","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B17","first-page":"18120","article-title":"Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development","volume":"109","author":"Anderson","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B18","first-page":"6176","article-title":"Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2\/Caspr2 knockout neurons","volume":"112","author":"Varea","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B19","first-page":"e0125633.","article-title":"The autism related protein contactin-associated protein-like 2 (CNTNAP2) stabilizes new spines: an in vivo mouse study","volume":"10","author":"Gdalyahu","year":"2015","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B20","first-page":"e1004852.","article-title":"No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in other contactin-associated proteins or contactins","volume":"11","author":"Murdoch","year":"2015","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B21","first-page":"165","article-title":"Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders","volume":"82","author":"Bakkaloglu","year":"2008","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B22","first-page":"118","article-title":"Intragenic CNTNAP2 deletions: a bridge too far?","volume":"8","author":"Poot","year":"2017","journal-title":"Mol. Syndromol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B23","first-page":"5788","article-title":"Structural characterization of the extracellular domain of CASPR2 and insights into its association with the novel ligand contactin1","volume":"291","author":"Rubio-Marrero","year":"2016","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B24","first-page":"24133","article-title":"Molecular architecture of contactin-associated protein-like 2 (CNTNAP2) and its interaction with contactin 2 (CNTN2)","volume":"291","author":"Lu","year":"2016","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B25","first-page":"4761","article-title":"Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation","volume":"21","author":"Falivelli","year":"2012","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B26","first-page":"265","article-title":"Inhibitory axons are targeted in hippocampal cell culture by anti-Caspr2 autoantibodies associated with limbic encephalitis","volume":"9","author":"Pinatel","year":"2015","journal-title":"Front. Cell. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B27","first-page":"26","article-title":"In and out from the cortex: development of major forebrain connections","volume":"254","author":"Leyva-Diaz","year":"2013","journal-title":"Neuroscience"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B28","first-page":"258","article-title":"Proliferation of oligodendrocyte precursor cells depends on electrical activity in axons","volume":"361","author":"Barres","year":"1993","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B29","first-page":"2046","article-title":"Altered corpus callosum morphology associated with autism over the first 2 years of life","volume":"138","author":"Wolff","year":"2015","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B30","first-page":"291","article-title":"Toddlers later diagnosed with autism exhibit multiple structural abnormalities in temporal corpus callosum fibers","volume":"97","author":"Fingher","year":"2017","journal-title":"Cortex"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B31","first-page":"1068","article-title":"Growth cone travel in space and time: the cellular ensemble of cytoskeleton, adhesion, and membrane","volume":"73","author":"Vitriol","year":"2012","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B32","first-page":"901","article-title":"Regulation of axonal outgrowth and pathfinding by integrin-ECM interactions","volume":"71","author":"Myers","year":"2011","journal-title":"Dev. Neurobiol"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B33","first-page":"3809","article-title":"Signaling mechanisms of neurite outgrowth induced by the cell adhesion molecules NCAM and N-cadherin","volume":"65","author":"Hansen","year":"2008","journal-title":"Cell. Mol. Life Sci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B34","first-page":"19","article-title":"Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration","volume":"10","author":"Maness","year":"2007","journal-title":"Nat. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B35","first-page":"351","article-title":"The role of NrCAM in neural development and disorders\u2013beyond a simple glue in the brain","volume":"49","author":"Sakurai","year":"2012","journal-title":"Mol. Cell. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B36","first-page":"411","article-title":"Protein 4.1B associates with both Caspr\/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres","volume":"17","author":"Denisenko-Nehrbass","year":"2003","journal-title":"Eur. J. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B37","first-page":"49","article-title":"The role of Gpi-anchored axonal glycoproteins in neural development and neurological disorders","volume":"81","author":"Gennarini","year":"2017","journal-title":"Mol. Cell. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B38","first-page":"209","article-title":"Association of Caspr\/paranodin with tumour suppressor schwannomin\/merlin and beta1 integrin in the central nervous system","volume":"84","author":"Denisenko-Nehrbass","year":"2003","journal-title":"J. Neurochem"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B39","first-page":"569","article-title":"Voltage-gated potassium channels regulate the response of retinal growth cones to axon extension and guidance cues","volume":"22","author":"Pollock","year":"2005","journal-title":"Eur. J. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B40","first-page":"1020","article-title":"A role for voltage-gated potassium channels in the outgrowth of retinal axons in the developing visual system","volume":"20","author":"McFarlane","year":"2000","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180517035555_ddy102-B41","first-page":"2026","article-title":"The cytoskeleton-associated protein SCHIP1 is involved in axon guidance, and is required for piriform cortex and anterior commissure development","volume":"142","author":"Klingler","year":"2015","journal-title":"Development"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/11\/1941\/24799766\/ddy102.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T07:56:07Z","timestamp":1526543767000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/27\/11\/1941\/4948677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,21]]},"references-count":41,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2018,3,21]]},"published-print":{"date-parts":[[2018,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy102","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,6,1]]},"published":{"date-parts":[[2018,3,21]]}}}