{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:53:06Z","timestamp":1790401986816,"version":"4.1.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2019,3,25]],"date-time":"2019-03-25T00:00:00Z","timestamp":1553472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002721","name":"Charcot-Marie-Tooth Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002721","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013465","name":"French Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013465","id-type":"DOI","asserted-by":"publisher"}]},{"name":"AFM-T\u00e9l\u00e9thon","award":["19719"],"award-info":[{"award-number":["19719"]}]},{"name":"Wallenberg Academy Fellow"},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Leonard Wolfson Experimental Neurology Centre"},{"name":"Dementia Research Institute"},{"DOI":"10.13039\/501100000765","name":"UCL","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,5,1]]},"DOI":"10.1093\/brain\/awz064","type":"journal-article","created":{"date-parts":[[2019,2,23]],"date-time":"2019-02-23T15:14:27Z","timestamp":1550934867000},"page":"1227-1241","source":"Crossref","is-referenced-by-count":62,"title":["Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy"],"prefix":"10.1093","volume":"142","author":[{"given":"Natasa","family":"Schiza","sequence":"first","affiliation":[{"name":"Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Georgiou","sequence":"additional","affiliation":[{"name":"Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexia","family":"Kagiava","sequence":"additional","affiliation":[{"name":"Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"M\u00e9dard","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Richter","sequence":"additional","affiliation":[{"name":"Department of Molecular Virology, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Tryfonos","sequence":"additional","affiliation":[{"name":"Department of Molecular Virology, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Sargiannidou","sequence":"additional","affiliation":[{"name":"Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J","family":"Heslegrave","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK"},{"name":"UK Dementia Research Institute at UCL, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M","family":"Rossor","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Zetterberg","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK"},{"name":"UK Dementia Research Institute at UCL, London, UK"},{"name":"Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, M\u00f6lndal, Sweden"},{"name":"Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, M\u00f6lndal, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Department of Molecular Virology, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Chrast","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kleopas A","family":"Kleopa","sequence":"additional","affiliation":[{"name":"Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,3,25]]},"reference":[{"key":"2019042904534417900_awz064-B1","doi-asserted-by":"crossref","first-page":"5089","DOI":"10.1523\/JNEUROSCI.4752-13.2014","article-title":"Long-term maintenance of Na+ channels at nodes of Ranvier depends on glial contact mediated by gliomedin and NrCAM","volume":"34","author":"Amor","year":"2014","journal-title":"J Neurosci"},{"key":"2019042904534417900_awz064-B2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1083\/jcb.200408165","article-title":"Recycling endosomes can serve as intermediates during transport from the Golgi to the plasma membrane of MDCK cells","volume":"167","author":"Ang","year":"2004","journal-title":"J Cell Biol"},{"key":"2019042904534417900_awz064-B3","doi-asserted-by":"crossref","first-page":"17528","DOI":"10.1073\/pnas.0905523106","article-title":"SH3TC2\/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system","volume":"106","author":"Arnaud","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019042904534417900_awz064-B4","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1212\/01.wnl.0000230225.19797.93","article-title":"Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations","volume":"67","author":"Azzedine","year":"2006","journal-title":"Neurology"},{"key":"2019042904534417900_awz064-B5","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1101\/gad.10.14.1751","article-title":"tst-1\/SCIP\/Oct-6 regulates a unique step in peripheral myelination and is required for normal respiration","volume":"10","author":"Bermingham","year":"1996","journal-title":"Genes Dev"},{"key":"2019042904534417900_awz064-B6","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1038\/mt.2011.157","article-title":"Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders","volume":"19","author":"Bevan","year":"2011","journal-title":"Mol Ther"},{"key":"2019042904534417900_awz064-B7","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3389\/fimmu.2013.00341","article-title":"Humoral immune response to AAV","volume":"4","author":"Calcedo","year":"2013","journal-title":"Front Immunol"},{"key":"2019042904534417900_awz064-B8","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/gt.2015.60","article-title":"Measurement of lentiviral vector titre and copy number by cross-species duplex quantitative PCR","volume":"23","author":"Christodoulou","year":"2016","journal-title":"Gene Ther"},{"key":"2019042904534417900_awz064-B9","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.nmd.2006.05.005","article-title":"Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2","volume":"16","author":"Colomer","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"2019042904534417900_awz064-B10","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.neuron.2010.02.004","article-title":"A glial signal consisting of gliomedin and NrCAM clusters axonal Na+ channels during the formation of nodes of Ranvier","volume":"65","author":"Feinberg","year":"2010","journal-title":"Neuron"},{"key":"2019042904534417900_awz064-B11","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nbt.1515","article-title":"Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes","volume":"27","author":"Foust","year":"2009","journal-title":"Nat Biotechnol"},{"key":"2019042904534417900_awz064-B12","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jnnp-2014-308826","article-title":"CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis","volume":"86","author":"Fridman","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2019042904534417900_awz064-B13","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1136\/jnnp.66.5.569","article-title":"Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33","volume":"66","author":"Gabreels-Festen","year":"1999","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2019042904534417900_awz064-B14","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1472-6750-6-34","article-title":"Comparison of lentiviral vector titration methods","volume":"6","author":"Geraerts","year":"2006","journal-title":"BMC Biotechnol"},{"key":"2019042904534417900_awz064-B15","doi-asserted-by":"crossref","first-page":"e69","DOI":"10.1136\/jmg.2005.034132","article-title":"A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes","volume":"42","author":"Gooding","year":"2005","journal-title":"J Med Genet"},{"key":"2019042904534417900_awz064-B16","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/glia.22493","article-title":"Sh3tc2 deficiency affects neuregulin-1\/ErbB signaling","volume":"61","author":"Gouttenoire","year":"2013","journal-title":"Glia"},{"key":"2019042904534417900_awz064-B17","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/mt.2015.189","article-title":"Evaluation of AAV-mediated gene therapy for central nervous system disease in canine mucopolysaccharidosis VII","volume":"24","author":"Gurda","year":"2016","journal-title":"Mol Ther"},{"key":"2019042904534417900_awz064-B18","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1093\/hmg\/ddy056","article-title":"Intrathecal gene therapy in mouse models expressing CMT1X mutations","volume":"27","author":"Kagiava","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2019042904534417900_awz064-B19","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/978-1-4939-7862-5_22","article-title":"Intrathecal delivery of viral vectors for gene therapy","volume":"1791","author":"Kagiava","year":"2018","journal-title":"Methods Mol Biol"},{"key":"2019042904534417900_awz064-B20","doi-asserted-by":"crossref","first-page":"E2421","DOI":"10.1073\/pnas.1522202113","article-title":"Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy","volume":"113","author":"Kagiava","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019042904534417900_awz064-B21","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1212\/WNL.48.4.867","article-title":"A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease","volume":"48","author":"Kessali","year":"1997","journal-title":"Neurology"},{"key":"2019042904534417900_awz064-B22","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1111\/j.1399-0004.2011.01640.x","article-title":"High frequency of SH3TC2 mutations in Czech HMSN I patients","volume":"80","author":"Lassuthova","year":"2011","journal-title":"Clin Genet"},{"key":"2019042904534417900_awz064-B23","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/hmg\/5.10.1685","article-title":"Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33","volume":"5","author":"LeGuern","year":"1996","journal-title":"Hum Mol Genet"},{"key":"2019042904534417900_awz064-B24","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1126\/science.1254445","article-title":"Prevention of muscular dystrophy in mice by CRISPR\/Cas9-mediated editing of germline DNA","volume":"345","author":"Long","year":"2014","journal-title":"Science"},{"key":"2019042904534417900_awz064-B25","doi-asserted-by":"crossref","first-page":"4603","DOI":"10.1093\/hmg\/ddp427","article-title":"Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway","volume":"18","author":"Lupo","year":"2009","journal-title":"Hum Mol Genet"},{"key":"2019042904534417900_awz064-B26","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/BF01187088","article-title":"Transient modulation of Schwann cell antigens after peripheral nerve transection of subsequent regeneration","volume":"18","author":"Neuberger","year":"1989","journal-title":"J Neurocytol"},{"key":"2019042904534417900_awz064-B27","doi-asserted-by":"crossref","first-page":"87","DOI":"10.4103\/0976-500X.72350","article-title":"Blood sample collection in small laboratory animals","volume":"1","author":"Parasuraman","year":"2010","journal-title":"J Pharmacol Pharmacother"},{"key":"2019042904534417900_awz064-B28","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1136\/jnnp-2013-307421","article-title":"Vestibular impairment in Charcot-Marie-Tooth disease type 4C","volume":"85","author":"Perez-Garrigues","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2019042904534417900_awz064-B29","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1093\/hmg\/ddp565","article-title":"Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C","volume":"19","author":"Roberts","year":"2010","journal-title":"Hum Mol Genet"},{"key":"2019042904534417900_awz064-B30","doi-asserted-by":"crossref","first-page":"e518","DOI":"10.1212\/WNL.0000000000004932","article-title":"Plasma neurofilament light chain concentration in the inherited peripheral neuropathies","volume":"90","author":"Sandelius","year":"2018","journal-title":"Neurology"},{"key":"2019042904534417900_awz064-B31","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ana.24441","article-title":"Intraneural GJB1 gene delivery improves nerve pathology in a model of CMT1X","volume":"78","author":"Sargiannidou","year":"2015","journal-title":"Ann Neurol"},{"key":"2019042904534417900_awz064-B32","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1086\/379525","article-title":"Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth Type 4C neuropathy","volume":"73","author":"Senderek","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"Pt 8","key":"2019042904534417900_awz064-B33","doi-asserted-by":"crossref","first-page":"2462","DOI":"10.1093\/brain\/awq168","article-title":"SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling","volume":"133","author":"Stendel","year":"2010","journal-title":"Brain"},{"key":"2019042904534417900_awz064-B34","doi-asserted-by":"crossref","first-page":"36","DOI":"10.3389\/fnmol.2015.00036","article-title":"Systemic AAVrh10 provides higher transgene expression than AAV9 in the brain and the spinal cord of neonatal mice","volume":"8","author":"Tanguy","year":"2015","journal-title":"Front Mol Neurosci"},{"key":"2019042904534417900_awz064-B35","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1083\/jcb.200509022","article-title":"Neuron to glia signaling triggers myelin membrane exocytosis from endosomal storage sites","volume":"172","author":"Trajkovic","year":"2006","journal-title":"J Cell Biol"},{"key":"2019042904534417900_awz064-B36","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1083\/jcb.135.4.913","article-title":"Rab11 regulates recycling through the pericentriolar recycling endosome","volume":"135","author":"Ullrich","year":"1996","journal-title":"J Cell Biol"},{"key":"2019042904534417900_awz064-B37","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/mus.24640","article-title":"Phenotypic variability of CMT4C in a French-Canadian kindred","volume":"52","author":"Varley","year":"2015","journal-title":"Muscle Nerve"},{"key":"2019042904534417900_awz064-B38","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1002\/glia.22514","article-title":"Stabilization of the dystroglycan complex in Cajal bands of myelinating Schwann cells through plectin-mediated anchorage to vimentin filaments","volume":"61","author":"Walko","year":"2013","journal-title":"Glia"},{"issue":"Pt 6","key":"2019042904534417900_awz064-B39","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1242\/jcs.022731","article-title":"Distinct endocytic recycling of myelin proteins promotes oligodendroglial membrane remodeling","volume":"121","author":"Winterstein","year":"2008","journal-title":"J Cell Sci"},{"key":"2019042904534417900_awz064-B40","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1172\/JCI96499","article-title":"PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models","volume":"128","author":"Zhao","year":"2018","journal-title":"J Clin Invest"},{"key":"2019042904534417900_awz064-B41","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1002\/(SICI)1097-4598(199608)19:8<946::AID-MUS2>3.0.CO;2-8","article-title":"Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations","volume":"19","author":"Zielasek","year":"1996","journal-title":"Muscle Nerve"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/142\/5\/1227\/28538257\/awz064.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,20]],"date-time":"2020-05-20T20:15:25Z","timestamp":1590005725000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/142\/5\/1227\/5419304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,25]]},"references-count":41,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2019,3,25]]},"published-print":{"date-parts":[[2019,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awz064","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.735393103.793559497","asserted-by":"object"}]},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,5]]},"published":{"date-parts":[[2019,3,25]]}}}