{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T02:22:50Z","timestamp":1792981370278,"version":"4.5.0"},"reference-count":46,"publisher":"XMLink","issue":"4","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2016R1A5A2007009"],"award-info":[{"award-number":["2016R1A5A2007009"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["NRF-2019R1F1A1060313"],"award-info":[{"award-number":["NRF-2019R1F1A1060313"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008005","name":"Yonsei University College of Medicine","doi-asserted-by":"publisher","award":["2019"],"award-info":[{"award-number":["2019"]}],"id":[{"id":"10.13039\/501100008005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["thejcn.com"],"crossmark-restriction":false},"short-container-title":["J Clin Neurol"],"published-print":{"date-parts":[[2021]]},"DOI":"10.3988\/jcn.2021.17.4.534","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T04:37:57Z","timestamp":1632803877000},"page":"534","update-policy":"https:\/\/doi.org\/10.3988\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Compound Heterozygous Pathogenic Variant in <i>B4GALNT1<\/i> Is Associated With Axonal Charcot-Marie-Tooth Disease"],"prefix":"10.3988","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0696-8448","authenticated-orcid":false,"given":"Ji-Man","family":"Hong","sequence":"first","affiliation":[{"name":"Department of Neurology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8206-2349","authenticated-orcid":false,"given":"Hyeonjin","family":"Jeon","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, College of Medicine, Dong-A University, Busan, Korea."},{"name":"Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5525-6861","authenticated-orcid":false,"given":"Young-Chul","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5936-1546","authenticated-orcid":false,"given":"Hanna","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4333-3847","authenticated-orcid":false,"given":"Young Bin","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, College of Medicine, Dong-A University, Busan, Korea."},{"name":"Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4165-8901","authenticated-orcid":false,"given":"Hyung Jun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18617","reference":[{"key":"10.3988\/jcn.2021.17.4.534_ref1","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1136\/jmg.17.5.329","volume":"17","author":"Harding","year":"1980","journal-title":"J Med Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref2","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/mus.23775","volume":"48","author":"Klein","year":"2013","journal-title":"Muscle Nerve"},{"key":"10.3988\/jcn.2021.17.4.534_ref3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ncpneuro0071","volume":"2","author":"Z\u00fcchner","year":"2006","journal-title":"Nat Clin Pract Neurol"},{"key":"10.3988\/jcn.2021.17.4.534_ref4","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/S1474-4422(09)70110-3","volume":"8","author":"Pareyson","year":"2009","journal-title":"Lancet Neurol"},{"key":"10.3988\/jcn.2021.17.4.534_ref5","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1212\/01.wnl.0000266399.43823.af","volume":"68","author":"Pareyson","year":"2007","journal-title":"Neurology"},{"key":"10.3988\/jcn.2021.17.4.534_ref6","first-page":"91","volume":"115","author":"Eggermann","year":"2018","journal-title":"Dtsch Arztebl Int"},{"key":"10.3988\/jcn.2021.17.4.534_ref7","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","volume":"15","author":"Pipis","year":"2019","journal-title":"Nat Rev Neurol"},{"key":"10.3988\/jcn.2021.17.4.534_ref8","doi-asserted-by":"crossref","first-page":"12082","DOI":"10.1016\/S0021-9258(19)49809-8","volume":"267","author":"Nagata","year":"1992","journal-title":"J Biol Chem"},{"key":"10.3988\/jcn.2021.17.4.534_ref9","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1006\/abbi.1995.0003","volume":"323","author":"Ruan","year":"1995","journal-title":"Arch Biochem Biophys"},{"key":"10.3988\/jcn.2021.17.4.534_ref10","doi-asserted-by":"crossref","first-page":"6149","DOI":"10.1074\/jbc.270.11.6149","volume":"270","author":"Yamashiro","year":"1995","journal-title":"J Biol Chem"},{"key":"10.3988\/jcn.2021.17.4.534_ref11","doi-asserted-by":"crossref","first-page":"S440","DOI":"10.1194\/jlr.R800028-JLR200","volume":"50 Suppl","author":"Yu","year":"2009","journal-title":"J Lipid Res"},{"key":"10.3988\/jcn.2021.17.4.534_ref12","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.3390\/ijms17101732","volume":"17","author":"Russo","year":"2016","journal-title":"Int J Mol Sci"},{"key":"10.3988\/jcn.2021.17.4.534_ref13","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.brainres.2005.08.044","volume":"1060","author":"She","year":"2005","journal-title":"Brain Res"},{"key":"10.3988\/jcn.2021.17.4.534_ref14","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1002\/jnr.23411","volume":"92","author":"Ariga","year":"2014","journal-title":"J Neurosci Res"},{"key":"10.3988\/jcn.2021.17.4.534_ref15","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1194\/jlr.R800007-JLR200","volume":"49","author":"Ariga","year":"2008","journal-title":"J Lipid Res"},{"key":"10.3988\/jcn.2021.17.4.534_ref16","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.nbd.2007.05.003","volume":"27","author":"Desplats","year":"2007","journal-title":"Neurobiol Dis"},{"key":"10.3988\/jcn.2021.17.4.534_ref17","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1016\/j.bbamem.2006.05.027","volume":"1758","author":"Kolter","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"10.3988\/jcn.2021.17.4.534_ref18","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ajhg.2013.05.006","volume":"93","author":"Boukhris","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref19","doi-asserted-by":"crossref","first-page":"3618","DOI":"10.1093\/brain\/awt270","volume":"136","author":"Harlalka","year":"2013","journal-title":"Brain"},{"key":"10.3988\/jcn.2021.17.4.534_ref20","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1111\/cge.12312","volume":"86","author":"Wakil","year":"2014","journal-title":"Clin Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref21","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1093\/brain\/120.5.813","volume":"120","author":"Birouk","year":"1997","journal-title":"Brain"},{"key":"10.3988\/jcn.2021.17.4.534_ref22","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","volume":"64","author":"Shy","year":"2005","journal-title":"Neurology"},{"key":"10.3988\/jcn.2021.17.4.534_ref23","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/humu.22959","volume":"37","author":"Hong","year":"2016","journal-title":"Hum Mutat"},{"key":"10.3988\/jcn.2021.17.4.534_ref24","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/s12883-015-0430-1","volume":"15","author":"Choi","year":"2015","journal-title":"BMC Neurol"},{"key":"10.3988\/jcn.2021.17.4.534_ref25","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/jmg.2004.020172","volume":"42","author":"Wilkinson","year":"2005","journal-title":"J Med Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref26","doi-asserted-by":"crossref","first-page":"105553","DOI":"10.1016\/j.clineuro.2019.105553","volume":"189","author":"Rose","year":"2020","journal-title":"Clin Neurol Neurosurg"},{"key":"10.3988\/jcn.2021.17.4.534_ref27","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ajhg.2010.12.003","volume":"88","author":"Guelly","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref28","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2011.06.013","volume":"89","author":"Rivi\u00e8re","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref29","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1212\/WNL.0000000000000691","volume":"83","author":"Liu","year":"2014","journal-title":"Neurology"},{"key":"10.3988\/jcn.2021.17.4.534_ref30","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.nmd.2017.11.008","volume":"28","author":"Souza","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.3988\/jcn.2021.17.4.534_ref31","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1093\/brain\/awv320","volume":"139","author":"Montecchiani","year":"2016","journal-title":"Brain"},{"key":"10.3988\/jcn.2021.17.4.534_ref32","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1212\/WNL.0000000000000758","volume":"83","author":"Tsai","year":"2014","journal-title":"Neurology"},{"key":"10.3988\/jcn.2021.17.4.534_ref33","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1096\/fj.05-4911fje","volume":"20","author":"Sohn","year":"2006","journal-title":"FASEB J"},{"key":"10.3988\/jcn.2021.17.4.534_ref34","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/bs.pmbts.2017.12.008","volume":"156","author":"Itokazu","year":"2018","journal-title":"Prog Mol Biol Transl Sci"},{"key":"10.3988\/jcn.2021.17.4.534_ref35","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.neurobiolaging.2009.01.007","volume":"32","author":"Zitman","year":"2011","journal-title":"Neurobiol Aging"},{"key":"10.3988\/jcn.2021.17.4.534_ref36","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/j.1749-6632.1998.tb09676.x","volume":"845","author":"Ando","year":"1998","journal-title":"Ann N Y Acad Sci"},{"key":"10.3988\/jcn.2021.17.4.534_ref37","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1749-6632.1998.tb09671.x","volume":"845","author":"Walkley","year":"1998","journal-title":"Ann N Y Acad Sci"},{"key":"10.3988\/jcn.2021.17.4.534_ref38","doi-asserted-by":"crossref","first-page":"5518","DOI":"10.1016\/j.febslet.2006.06.008","volume":"580","author":"Vance","year":"2006","journal-title":"FEBS Lett"},{"key":"10.3988\/jcn.2021.17.4.534_ref39","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/85879","volume":"27","author":"Dawkins","year":"2001","journal-title":"Nat Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref40","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.ajhg.2010.09.010","volume":"87","author":"Rotthier","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.3988\/jcn.2021.17.4.534_ref41","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1096\/fj.201701067R","volume":"32","author":"Schwartz","year":"2018","journal-title":"FASEB J"},{"key":"10.3988\/jcn.2021.17.4.534_ref42","doi-asserted-by":"crossref","first-page":"10662","DOI":"10.1073\/pnas.93.20.10662","volume":"93","author":"Takamiya","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.3988\/jcn.2021.17.4.534_ref43","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1523\/JNEUROSCI.3996-13.2014","volume":"34","author":"Yao","year":"2014","journal-title":"J Neurosci"},{"key":"10.3988\/jcn.2021.17.4.534_ref44","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.gene.2017.05.041","volume":"626","author":"Dad","year":"2017","journal-title":"Gene"},{"key":"10.3988\/jcn.2021.17.4.534_ref45","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.neuroscience.2018.11.034","volume":"397","author":"Bhuiyan","year":"2019","journal-title":"Neuroscience"},{"key":"10.3988\/jcn.2021.17.4.534_ref46","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["Journal of Clinical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/thejcn.com\/pdf\/10.3988\/jcn.2021.17.4.534","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejcn.com\/DOIx.php?id=10.3988\/jcn.2021.17.4.534","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejcn.com\/DOIx.php?id=10.3988\/jcn.2021.17.4.534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T04:48:14Z","timestamp":1632804494000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejcn.com\/DOIx.php?id=10.3988\/jcn.2021.17.4.534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":46,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.3988\/jcn.2021.17.4.534","relation":{},"ISSN":["1738-6586","2005-5013"],"issn-type":[{"value":"1738-6586","type":"print"},{"value":"2005-5013","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]},"assertion":[{"value":"2021-03-16","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-08","name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-08","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-17","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"Copyright \u00a9 2021 Korean Neurological Association","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}