{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:35:30Z","timestamp":1789166130389,"version":"build-2803163510"},"reference-count":125,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T00:00:00Z","timestamp":1668556800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["APP1046680"],"award-info":[{"award-number":["APP1046680"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["APP1186867"],"award-info":[{"award-number":["APP1186867"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004365","name":"Sydney Medical School","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004365","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Charcot\u2013Marie\u2013Tooth Association and NIH\/NCATS KL2 Career Development Award","award":["CTSI-KL2-FY19-0X"],"award-info":[{"award-number":["CTSI-KL2-FY19-0X"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and four disease loci implicated in dHMN. Despite the high genetic heterogeneity, mutations in the known genes account for less than 20% of dHMN cases, with the mutations identified predominantly being point mutations or indels. We have expanded the spectrum of dHMN mutations with the identification of a 1.35 Mb complex structural variation (SV) causing a form of autosomal dominant dHMN (DHMN1 OMIM %182906). Given the complex nature of SV mutations and the importance of studying pathogenic mechanisms in a neuronal setting, we generated a patient-derived DHMN1 motor neuron model harbouring the 1.35 Mb complex insertion. The DHMN1 complex insertion creates a duplicated copy of the first 10 exons of the ubiquitin-protein E3 ligase gene (UBE3C) and forms a novel gene\u2013intergenic fusion sense transcript by incorporating a terminal pseudo-exon from intergenic sequence within the DHMN1 locus. The UBE3C intergenic fusion (UBE3C-IF) transcript does not undergo nonsense-mediated decay and results in a significant reduction of wild-type full-length UBE3C (UBE3C-WT) protein levels in DHMN1 iPSC-derived motor neurons. An engineered transgenic Caenorhabditis elegans model expressing the UBE3C-IF transcript in GABA-ergic motor neurons shows neuronal synaptic transmission deficits. Furthermore, the transgenic animals are susceptible to heat stress, which may implicate defective protein homeostasis underlying DHMN1 pathogenesis. Identification of the novel UBE3C-IF gene\u2013intergenic fusion transcript in motor neurons highlights a potential new disease mechanism underlying axonal and motor neuron degeneration. These complementary models serve as a powerful paradigm for studying the DHMN1 complex SV and an invaluable tool for defining therapeutic targets for DHMN1.<\/jats:p>","DOI":"10.1093\/brain\/awac424","type":"journal-article","created":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T05:42:28Z","timestamp":1668577348000},"page":"880-897","source":"Crossref","is-referenced-by-count":16,"title":["Novel gene\u2013intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4527-3710","authenticated-orcid":false,"given":"Anthony N","family":"Cutrupi","sequence":"first","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8171-474X","authenticated-orcid":false,"given":"Ramesh K","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonzalo","family":"Perez-Siles","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca R","family":"Grosz","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaitao","family":"Lai","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Ancestry and Health Genomics Laboratory, Charles Perkins Centre, Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Boyling","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina","family":"Ellis","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruby C Y","family":"Lin","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"},{"name":"Centre for Infectious Diseases and Microbiology, Westmead Institute for Medical Research , Sydney, NSW 2145 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent","family":"Neumann","sequence":"additional","affiliation":[{"name":"Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental Biology, Monash University , Melbourne, VIC 3800 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Mao","sequence":"additional","affiliation":[{"name":"Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University , Uji 611-0011 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motonari","family":"Uesugi","sequence":"additional","affiliation":[{"name":"Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University , Uji 611-0011 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth A","family":"Nicholson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital , Sydney, NSW 2139 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Vucic","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"},{"name":"Brain and Nerve Research Centre, Concord Repatriation General Hospital , Sydney, NSW 2139 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario A","family":"Saporta","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Miami Miller School of Medicine , Miami, FL 33136 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina L","family":"Kennerson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute , Sydney, NSW 2139 , Australia"},{"name":"Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2006 , Australia"},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital , Sydney, NSW 2139 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,11,16]]},"reference":[{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"650","DOI":"10.2174\/156652411797536714","article-title":"Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: Insights directing future genetic studies","volume":"11","author":"Drew","year":"2011","journal-title":"Curr Mol Med"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1007\/s00439-016-1720-4","article-title":"A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2","volume":"135","author":"Drew","year":"2016","journal-title":"Hum Genet"},{"key":"2023030117482928000_","first-page":"863","volume-title":"Handbook of clinical neurology","author":"Landrieu","year":"2013"},{"issue":"Pt 5","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1093\/brain\/awn029","article-title":"Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: A genotype\u2013phenotype correlation study","volume":"131","author":"Dierick","year":"2007","journal-title":"Brain"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jnnp-2011-300952","article-title":"The distal hereditary motor neuropathies","volume":"83","author":"Rossor","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1212\/WNL.0000000000003772","article-title":"Genetic heterogeneity of motor neuropathies","volume":"88","author":"Bansagi","year":"2017","journal-title":"Neurology"},{"key":"2023030117482928000_","first-page":"19","volume-title":"Principles of neural science","author":"Kandel","year":"2000"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ng1354","article-title":"Mutant small heat-shock protein 27 causes axonal Charcot\u2013Marie\u2013Tooth disease and distal hereditary motor neuropathy","volume":"36","author":"Evgrafov","year":"2004","journal-title":"Nat Genet."},{"key":"2023030117482928000_","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","author":"Harms","year":"2012","journal-title":"Neurology"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1123","article-title":"Mutant dynactin in motor neuron disease","volume":"33","author":"Puls","year":"2003","journal-title":"Nat Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1126\/scisignal.aae0546","article-title":"Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter","volume":"9","author":"Kahle","year":"2016","journal-title":"Sci Signal."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.ajhg.2012.09.019","article-title":"Defective presynaptic choline transport underlies hereditary motor neuropathy","volume":"91","author":"Barwick","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2010.01.027","article-title":"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy","volume":"86","author":"Kennerson","year":"2010","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng703","article-title":"Mutations in the gene encoding immunoglobulin \u03bc-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1","volume":"29","author":"Grohmann","year":"2001","journal-title":"Nat Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1086\/421054","article-title":"DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)","volume":"74","author":"Chen","year":"2004","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1212\/WNL.0000000000000305","article-title":"Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis","volume":"82","author":"Butterfield","year":"2014","journal-title":"Neurology"},{"issue":"Pt 8","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1093\/brain\/awv158","article-title":"Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies","volume":"138","author":"Safka Brozkova","year":"2015","journal-title":"Brain"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA synthetase muations in Charcot\u2013Marie\u2013Tooth disease type 2D and distal spinal muscular atrophy","volume":"72","author":"Antonellis","year":"2003","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1212\/WNL.0b013e3182574f8f","article-title":"Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy","volume":"78","author":"Zhao","year":"2012","journal-title":"Neurology"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1212\/WNL.0b013e3182698d8d","article-title":"Genetic dysfunction of MT-ATP6 causes axonal Charcot\u2013Marie\u2013Tooth disease","volume":"79","author":"Pitceathly","year":"2012","journal-title":"Neurology"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1212\/01.wnl.0000436067.43384.0b","article-title":"Episodic weakness due to mitochondrial DNA MT-ATP6\/8 mutations","volume":"81","author":"Aure","year":"2013","journal-title":"Neurology"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1212\/WNL.0000000000002813","article-title":"Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia","volume":"87","author":"Stoll","year":"2016","journal-title":"Neurology"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1038\/ejhg.2013.231","article-title":"Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy","volume":"22","author":"Zhao","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1086\/518900","article-title":"The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset","volume":"81","author":"Maystadt","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/j.ajhg.2013.10.006","article-title":"A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance","volume":"93","author":"Sumner","year":"2013","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/humu.21488","article-title":"A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14","volume":"32","author":"Choi","year":"2011","journal-title":"Hum Mutat"},{"issue":"Pt 6","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1093\/brain\/awr076","article-title":"Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin","volume":"134","author":"Auer-Grumbach","year":"2011","journal-title":"Brain"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.ajhg.2016.08.006","article-title":"TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy","volume":"99","author":"Sferra","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/mgg3.390","article-title":"Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation","volume":"6","author":"Cutrupi","year":"2018","journal-title":"Mol Genet Genomic Med."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nrg2958","article-title":"Genome structural variation discovery and genotyping","volume":"12","author":"Alkan","year":"2011","journal-title":"Nat Rev Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ymeth.2016.01.020","article-title":"Structural variation detection using next-generation sequencing data: A comparative technical review","volume":"102","author":"Guan","year":"2016","journal-title":"Methods"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1146\/annurev-med-100708-204735","article-title":"Structural variation in the human genome and its role in disease","volume":"61","author":"Stankiewicz","year":"2010","journal-title":"Annu Rev Med."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human genomes","volume":"526","author":"Sudmant","year":"2015","journal-title":"Nature"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.tig.2008.03.001","article-title":"The functional impact of structural variation in humans","volume":"24","author":"Hurles","year":"2008","journal-title":"Trends Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","article-title":"DNA Duplication associated with Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"66","author":"Lupski","year":"1991","journal-title":"Cell"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/ng0492-29","article-title":"Gene dosage is a mechanism for Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"1","author":"Lupski","year":"1992","journal-title":"Nat Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/ng0692-159","article-title":"The gene for the peripheral myelin protein PMP\u201322 is a candidate for Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"1","author":"Patel","year":"1992","journal-title":"Nat Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0692-171","article-title":"The peripheral myelin protein gene PMP\u201322 is contained within the Charcot\u2013Marie\u2013Tooth disease type 1A duplication","volume":"1","author":"Timmerman","year":"1992","journal-title":"Nat Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng1292-288","article-title":"Identical point mutations of PMP-22 in Trembler-J mouse and Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"2","author":"Valentijn","year":"1992","journal-title":"Nat Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ejhg.2009.186","article-title":"Copy number variation upstream of PMP22 in Charcot\u2013Marie\u2013Tooth disease","volume":"18","author":"Weterman","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.ajhg.2010.05.001","article-title":"Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: Rare CNVs as a cause for missing heritability","volume":"86","author":"Zhang","year":"2010","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2830","DOI":"10.1093\/hmg\/ddy191","article-title":"Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer","volume":"27","author":"Pantera","year":"2018","journal-title":"Hum Mol Genet."},{"issue":"Spec No 1","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"R57","DOI":"10.1093\/hmg\/ddl057","article-title":"Structural variants: Changing the landscape of chromosomes and design of disease studies","volume":"15","author":"Feuk","year":"2006","journal-title":"Hum Mol Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1093\/hmg\/7.10.1611","article-title":"Position effect in human genetic disease","volume":"7","author":"Kleinjan","year":"1998","journal-title":"Hum Mol Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"e17557","DOI":"10.1371\/journal.pone.0017557","article-title":"Efficient feeder-free episomal reprogramming with small molecules","volume":"6","author":"Yu","year":"2011","journal-title":"PLoS One"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1038\/sj.gt.3301808","article-title":"Establishment of an oriP\/EBNA1-based episomal vector transcribing human genomic \u03b2-globin in cultured murine fibroblasts","volume":"9","author":"Black","year":"2002","journal-title":"Gene Ther."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1126\/science.1172482","article-title":"Human induced pluripotent stem cells free of vector and transgene sequences","volume":"324","author":"Yu","year":"2009","journal-title":"Science"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"6626","DOI":"10.1038\/ncomms7626","article-title":"Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells","volume":"6","author":"Du","year":"2015","journal-title":"Nat Commun"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1039\/C7CC08686E","article-title":"Chemical decontamination of iPS cell-derived neural cell mixtures","volume":"54","author":"Mao D, Chung XKW, Andoh-Noda T, et al","year":"2018","journal-title":"Chem Commun (Camb)"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"R106","DOI":"10.1186\/gb-2010-11-10-r106","article-title":"Differential expression analysis for sequence count data","volume":"11","author":"Anders","year":"2010","journal-title":"Genome Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: A flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/s41587-019-0201-4","article-title":"Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype","volume":"37","author":"Kim","year":"2019","journal-title":"Nat Biotechnol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/nbt.3122","article-title":"Stringtie enables improved reconstruction of a transcriptome from RNA-seq reads","volume":"33","author":"Pertea","year":"2015","journal-title":"Nat Biotechnol."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1001138","article-title":"Defuse: An algorithm for gene fusion discovery in tumor RNA-seq data","volume":"7","author":"McPherson","year":"2011","journal-title":"PLoS Comput Biol."},{"key":"2023030117482928000_","article-title":"Fusioncatcher\u2014A tool for finding somatic fusion genes in paired-end RNA-sequencing data","author":"Nicorici","year":"2014","journal-title":"biorxiv"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1101\/gr.257246.119","article-title":"Accurate and efficient detection of gene fusions from RNA sequencing data","volume":"31","author":"Uhrig","year":"2021","journal-title":"Genome Res."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"R183","DOI":"10.1186\/gb-2007-8-9-r183","article-title":"The DAVID gene functional classification tool: A novel biological module-centric algorithm to functionally analyze large gene lists","volume":"8","author":"Huang","year":"2007","journal-title":"Genome Biol."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/nprot.2008.211","article-title":"Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources","volume":"4","author":"Huang","year":"2009","journal-title":"Nat Protoc"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1093\/nar\/gkg034","article-title":"STRING: A database of predicted functional associations between proteins","volume":"31","author":"von Mering","year":"2003","journal-title":"Nucleic Acids Res"},{"issue":"Database issue","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"D433","DOI":"10.1093\/nar\/gki005","article-title":"STRING: Known and predicted protein\u2013protein associations, integrated and transferred across organisms","volume":"33","author":"von Mering","year":"2004","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"D607","DOI":"10.1093\/nar\/gky1131","article-title":"STRING V11: Protein\u2013protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets","volume":"47","author":"Szklarczyk","year":"2019","journal-title":"Nucleic Acids Res."},{"issue":"D1","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"D605","DOI":"10.1093\/nar\/gkaa1074","article-title":"The STRING database in 2021: Customizable protein\u2013protein networks, and functional characterization of user-uploaded gene\/measurement sets","volume":"49","author":"Szklarczyk","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1186\/s13059-015-0831-x","article-title":"HiC-Pro: An optimized and flexible pipeline for Hi-C data processing","volume":"16","author":"Servant","year":"2015","journal-title":"Genome Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13059-018-1486-1","article-title":"Higlass: Web-based visual exploration and analysis of genome interaction maps","volume":"19","author":"Kerpedjiev","year":"2018","journal-title":"Genome Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"3190","DOI":"10.1093\/bioinformatics\/btw368","article-title":"TADtool: Visual parameter identification for TAD-calling algorithms","volume":"32","author":"Kruse","year":"2016","journal-title":"Bioinformatics"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.041541","article-title":"Modelling the pathogenesis of X-lined distal hereditary motor neuropathy using patient-derived IPSC","volume":"13","author":"Perez-Siles","year":"2020","journal-title":"Dis Models Mech"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1007\/s00018-018-2794-z","article-title":"Nestin-expressing progenitor cells: Function, identity and therapeutic implications","volume":"75","author":"Bernal","year":"2018","journal-title":"Cell Mol Life Sci."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1007\/s00439-007-0348-9","article-title":"A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36","volume":"121","author":"Gopinath","year":"2007","journal-title":"Hum Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1086\/426833","article-title":"Long-range control of gene expression: Emerging mechanisms and disruption in disease","volume":"76","author":"Kleinjan","year":"2005","journal-title":"Am J Hum Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0065-2660(07)00013-2","article-title":"Long-range gene control and genetic disease","volume":"61","author":"Kleinjan","year":"2008","journal-title":"Adv Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/bfgp\/elp022","article-title":"Cis-ruption mechanisms: Disruption of cis-regulatory control as a cause of human genetic disease","volume":"8","author":"Kleinjan","year":"2009","journal-title":"Brief Funct Genom"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.stem.2020.09.001","article-title":"Loss of extreme long-range enhancers in human neural crest drives a craniofacial disorder","volume":"27","author":"Long","year":"2020","journal-title":"Cell Stem Cell"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"5278","DOI":"10.1038\/s41598-017-05702-5","article-title":"Global transcriptome analysis identifies differentially expressed genes related to lipid metabolism in Wagyu and Holstein cattle","volume":"7","author":"Huang","year":"2017","journal-title":"Sci Rep"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/s41576-019-0150-2","article-title":"RNA Sequencing: The teenage years","volume":"20","author":"Stark","year":"2019","journal-title":"Nat Rev Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"19871","DOI":"10.1074\/jbc.M100034200","article-title":"A HECT domain E3 enzyme assembles novel polyubiquitin chains","volume":"276","author":"You","year":"2001","journal-title":"J Biol Chem"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"23369","DOI":"10.1074\/jbc.M212887200","article-title":"Proteolytic targeting of transcriptional regulator TIP120B by a HECT domain E3 ligase","volume":"278","author":"You","year":"2003","journal-title":"J Biol Chem"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1042\/BCJ20200027","article-title":"Crystal structure of HECT domain of UBE3C E3 ligase and its ubiquitination activity","volume":"477","author":"Singh","year":"2020","journal-title":"Biochem J"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","article-title":"Basic local alignment search tool","volume":"215","author":"Altschul","year":"1990","journal-title":"J Mol Biol."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","article-title":"Gapped BLAST and PSI-BLAST: A new generation of protein database search programs","volume":"25","author":"Altschul","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"5101","DOI":"10.1111\/j.1742-4658.2005.04945.x","article-title":"Protein database searches using compositionally adjusted substitution matrices","volume":"272","author":"Altschul","year":"2005","journal-title":"FEBS J"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1093\/bioinformatics\/btm076","article-title":"COBALT: Constraint-based alignment tool for multiple protein sequences","volume":"23","author":"Papadopoulos","year":"2007","journal-title":"Bioinformatics"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1523\/JNEUROSCI.18-01-00070.1998","article-title":"Synaptic transmission deficits in Caenorhabditis elegans synaptobrevin mutants","volume":"18","author":"Nonet","year":"1998","journal-title":"J Neurosci."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/hmg\/ddab228","article-title":"Charcot\u2013Marie\u2013Tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model","volume":"31","author":"Narayanan","year":"2021","journal-title":"Hum Mol Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1038\/ncb2343","article-title":"Hul5 HECT ubiquitin ligase plays a major role in the ubiquitylation and turnover of cytosolic misfolded proteins","volume":"13","author":"Fang","year":"2011","journal-title":"Nat Cell Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"842860","DOI":"10.3389\/fgene.2022.842860","article-title":"Structural variation at a disease mutation hotspot: Strategies to investigate gene regulation and the 3D genome","volume":"13","author":"Boyling","year":"2022","journal-title":"Front Genet"},{"key":"2023030117482928000_","first-page":"65","article-title":"A minute chromosome in human chronic granulocytic leukemia","volume":"132","author":"Nowell","year":"1960","journal-title":"Science"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/243290a0","article-title":"A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining","volume":"243","author":"Rowley","year":"1973","journal-title":"Nature"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1126\/science.1117679","article-title":"Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer","volume":"310","author":"Tomlins","year":"2005","journal-title":"Science"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrc2091","article-title":"The impact of translocations and gene fusions on cancer causation","volume":"7","author":"Mitelman","year":"2007","journal-title":"Nat Rev Cancer"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1001\/jama.2011.497","article-title":"Use of whole-genome sequencing to diagnose a cryptic fusion oncogene","volume":"305","author":"Welch","year":"2011","journal-title":"JAMA"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.canlet.2013.01.011","article-title":"Fusion genes and their discovery using high throughput sequencing","volume":"340","author":"Annala","year":"2013","journal-title":"Cancer Lett."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1186\/s13059-020-02076-2","article-title":"Dysregulation of cancer genes by recurrent intergenic fusions","volume":"21","author":"Yun","year":"2020","journal-title":"Genome Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"10","DOI":"10.3390\/ncrna7010010","article-title":"Fusion genes and RNAs in cancer development","volume":"7","author":"Taniue","year":"2021","journal-title":"Noncoding RNA"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"giab080","DOI":"10.1093\/gigascience\/giab080","article-title":"Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA-minus RNA sequencing data","volume":"10","author":"Hoogstrate","year":"2021","journal-title":"Gigascience"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"e554","DOI":"10.1212\/NXG.0000000000000554","article-title":"WGS and RNA studies diagnose noncoding DMD variants in males with high creatine kinase","volume":"7","author":"Waddell","year":"2021","journal-title":"Neurol Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1186\/s13059-021-02507-8","article-title":"MINTIE: Identifying novel structural and splice variants in transcriptomes using RNA-seq data","volume":"22","author":"Cmero","year":"2021","journal-title":"Genome Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"e564","DOI":"10.1016\/j.cllc.2020.04.014","article-title":"Chr2 30297612-ALK, a novel intergenic fusion with exon 18 of ALK, responds to crizotinib","volume":"21","author":"Chen","year":"2020","journal-title":"Clin Lung Cancer."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1101\/gr.136572.111","article-title":"Nfuse: Discovery of complex genomic rearrangements in cancer using high-throughput sequencing","volume":"22","author":"McPherson","year":"2012","journal-title":"Genome Res."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0896-6273(01)80026-X","article-title":"Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity","volume":"23","author":"Arber","year":"1999","journal-title":"Neuron"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1016\/j.febslet.2015.05.009","article-title":"HECT-type E3 ubiquitin ligases in nerve cell development and synapse physiology","volume":"589","author":"Ambrozkiewicz","year":"2015","journal-title":"FEBS Lett."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"29","DOI":"10.3389\/fgene.2018.00029","article-title":"A comprehensive atlas of E3 ubiquitin ligase mutations in neurological disorders","volume":"9","author":"George","year":"2018","journal-title":"Front Genet"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/nrm2690","article-title":"Physiological functions of the HECT family of ubiquitin ligases","volume":"10","author":"Rotin","year":"2009","journal-title":"Nat Rev Mol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"370","DOI":"10.3389\/fphys.2019.00370","article-title":"HECT E3 ligases: A tale with multiple facets","volume":"10","author":"Weber","year":"2019","journal-title":"Front Physiol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.3390\/cells9112455","article-title":"Molecular evolution, neurodevelopmental roles and clinical significance of HECT-type UBE3 E3 ubiquitin ligases","volume":"9","author":"Ambrozkiewicz","year":"2020","journal-title":"Cells"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.3389\/fphys.2020.01022","article-title":"E3 ubiquitin ligases in neurological diseases: Focus on gigaxonin and autophagy","volume":"11","author":"Lescouzeres","year":"2020","journal-title":"Front Physiol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"30955","DOI":"10.1038\/srep30955","article-title":"Genome-wide identification and gene expression profiling of ubiquitin ligases for endoplasmic reticulum protein degradation","volume":"6","author":"Kaneko","year":"2016","journal-title":"Sci Rep"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"4083","DOI":"10.1042\/BCJ20160719","article-title":"Systematic approaches to identify E3 ligase substrates","volume":"473","author":"Iconomou","year":"2016","journal-title":"Biochem J"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"3668","DOI":"10.4161\/cc.8.22.9979","article-title":"Regulation of p53: TRIM24 enters the RING","volume":"8","author":"Jain","year":"2009","journal-title":"Cell Cycle"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1038\/cdd.2011.16","article-title":"Ubiquitination of E3 ligases: Self-regulation of the ubiquitin system via proteolytic and non-proteolytic mechanisms","volume":"18","author":"de Bie","year":"2011","journal-title":"Cell Death Differ"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"88","DOI":"10.12688\/f1000research.21253.1","article-title":"Regulation of E3 ubiquitin ligases by homotypic and heterotypic assembly","volume":"9","author":"Balaji","year":"2020","journal-title":"F1000Res"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"8945","DOI":"10.1074\/jbc.275.12.8945","article-title":"Mdm2 is a RING finger-dependent ubiquitin protein ligase for itself and p53","volume":"275","author":"Fang","year":"2000","journal-title":"J Biol Chem"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1128\/MCB.19.1.724","article-title":"Siah-1 N-terminal RING domain is required for proteolysis function, and C-terminal sequences regulate oligomerization and binding to target proteins","volume":"19","author":"Hu","year":"1999","journal-title":"Mol Cell Biol."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"34575","DOI":"10.1074\/jbc.M113.499350","article-title":"The E3 ubiquitin ligase UBE3C enhances proteasome processivity by ubiquitinating partially proteolyzed substrates","volume":"288","author":"Chu","year":"2013","journal-title":"J Biol Chem"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"70","DOI":"10.3389\/fnmol.2014.00070","article-title":"The ubiquitin\u2013proteasome system in neurodegenerative diseases: Precipitating factor, yet part of the solution","volume":"7","author":"Dantuma","year":"2014","journal-title":"Front Mol Neurosci"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"303","DOI":"10.3389\/fnagi.2016.00303","article-title":"Dysregulation of ubiquitin-proteasome system in neurodegenerative diseases","volume":"8","author":"Zheng","year":"2016","journal-title":"Front Aging Neurosci"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/hmg\/ddn319","article-title":"Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis","volume":"18","author":"Cheroni","year":"2009","journal-title":"Hum Mol Genet."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.4103\/1673-5374.335786","article-title":"Ubiquitin homeostasis disruption, a common cause of proteostasis collapse in amyotrophic lateral sclerosis?","volume":"17","author":"Chisholm","year":"2022","journal-title":"Neural Regen Res."},{"issue":"Pt B","key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.brainres.2016.03.032","article-title":"Proteostasis impairment in ALS","volume":"1648","author":"Ruegsegger","year":"2016","journal-title":"Brain Res."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.pbiomolbio.2022.06.001","article-title":"Proteostasis impairment and ALS","volume":"174","author":"Lambert-Smith","year":"2022","journal-title":"Prog Biophys Mol Biol"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"27299","DOI":"10.1074\/jbc.274.38.27299","article-title":"E2\/E3-mediated assembly of lysine 29-linked polyubiquitin chains","volume":"274","author":"Mastrandrea","year":"1999","journal-title":"J Biol Chem"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1128\/MCB.00909-09","article-title":"The ubiquitin ligase Hul5 promotes proteasomal processivity","volume":"30","author":"Aviram","year":"2010","journal-title":"Mol Cell Biol."},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"16374","DOI":"10.1074\/jbc.M801702200","article-title":"Ubiquitin ligase Hul5 is required for fragment-specific substrate degradation in endoplasmic reticulum-associated degradation","volume":"283","author":"Kohlmann","year":"2008","journal-title":"J Biol Chem"},{"key":"2023030117482928000_","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.gde.2017.01.011","article-title":"Molecular pathogenesis of peripheral neuropathies: Insights from Drosophila models","volume":"44","author":"Bussmann","year":"2017","journal-title":"Curr Opin Genet Dev."}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awac424\/48497434\/awac424.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/146\/3\/880\/49356572\/awac424.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/146\/3\/880\/49356572\/awac424.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,12]],"date-time":"2023-03-12T04:01:40Z","timestamp":1678593700000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/146\/3\/880\/6830572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,16]]},"references-count":125,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,11,16]]},"published-print":{"date-parts":[[2023,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awac424","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,3,1]]},"published":{"date-parts":[[2022,11,16]]}}}