{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T16:00:06Z","timestamp":1789833606383,"version":"4.0.1"},"reference-count":41,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,10]],"date-time":"2023-06-10T00:00:00Z","timestamp":1686355200000},"content-version":"am","delay-in-days":374,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K07882"],"award-info":[{"award-number":["20K07882"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Government of Japan Ministry of Health Labour and Welfare","doi-asserted-by":"publisher","award":["20FC1030"],"award-info":[{"award-number":["20FC1030"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.nmd.2022.04.002","type":"journal-article","created":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T02:12:08Z","timestamp":1649470328000},"page":"503-511","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies"],"prefix":"10.1016","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4612-3183","authenticated-orcid":false,"given":"Haruki","family":"Koike","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soma","family":"Furukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naohiro","family":"Mouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahisa","family":"Katsuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2022.04.002_bib0001","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0092-8674(93)90058-X","article-title":"DNA deletion associated with hereditary neuropathy with liability to pressure palsies","volume":"72","author":"Chance","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2022.04.002_bib0002","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","article-title":"DNA duplication associated with Charcot-Marie-tooth disease type 1A","volume":"66","author":"Lupski","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2022.04.002_bib0003","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1093\/brain\/124.11.2177","article-title":"Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A","volume":"124","author":"Sancho","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0004","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jns.2019.01.030","article-title":"Rodent models with expression of PMP22: relevance to dysmyelinating CMT and HNPP","volume":"398","author":"Jouaud","year":"2019","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2022.04.002_bib0005","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1083\/jcb.117.1.225","article-title":"Characterization of a novel peripheral nervous system myelin protein (PMP-22\/SR13)","volume":"117","author":"Snipes","year":"1992","journal-title":"J Cell Biol"},{"issue":"2","key":"10.1016\/j.nmd.2022.04.002_bib0006","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s12035-012-8370-x","article-title":"Guo J. The PMP22 gene and its related diseases","volume":"Apr;47","author":"Li","year":"2013","journal-title":"Mol Neurobiol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0007","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/ng1195-274","article-title":"Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice","volume":"11","author":"Adlkofer","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2022.04.002_bib0008","doi-asserted-by":"crossref","first-page":"5351","DOI":"10.1523\/JNEUROSCI.16-17-05351.1996","article-title":"Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage","volume":"16","author":"Magyar","year":"1996","journal-title":"J Neurosci"},{"key":"10.1016\/j.nmd.2022.04.002_bib0009","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1046\/j.1469-7580.1999.19530331.x","article-title":"Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice","volume":"195","author":"Robertson","year":"1999","journal-title":"J Anat"},{"key":"10.1016\/j.nmd.2022.04.002_bib0010","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1093\/brain\/95.4.777","article-title":"Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects","volume":"95","author":"Behse","year":"1972","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0011","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1046\/j.1469-7580.2002.00039.x","article-title":"Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A","volume":"200","author":"Robertson","year":"2002","journal-title":"J Anat"},{"key":"10.1016\/j.nmd.2022.04.002_bib0012","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1097\/NEN.0b013e3181598294","article-title":"Nonmyelinating Schwann cell involvement with well-preserved unmyelinated axons in Charcot-Marie-Tooth disease type 1A","volume":"66","author":"Koike","year":"2007","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0013","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004390050330","article-title":"Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP","volume":"99","author":"Yamamoto","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.nmd.2022.04.002_bib0014","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1136\/jnnp.2004.048140","article-title":"Age associated axonal features in HNPP with 17p11.2 deletion in Japan","volume":"76","author":"Koike","year":"2005","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2022.04.002_bib0015","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/ana.10550","article-title":"Alcoholic neuropathy is clinicopathologically distinct from thiamine-deficiency neuropathy","volume":"54","author":"Koike","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0016","doi-asserted-by":"crossref","first-page":"2563","DOI":"10.1093\/brain\/awt193","article-title":"Clinicopathological features of neuropathy associated with lymphoma","volume":"136","author":"Tomita","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0017","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1093\/brain\/awq214","article-title":"Clinicopathological features of acute autonomic and sensory neuropathy","volume":"133","author":"Koike","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0018","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/brain\/114.1.585","article-title":"Morphological changes in unmyelinated nerve fibres in the sural nerve with age","volume":"114","author":"Kanda","year":"1991","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0019","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1093\/brain\/98.3.493","article-title":"Unmyelinated fibres and Schwann cells of sural nerve in neuropathy","volume":"98","author":"Behse","year":"1975","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0020","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1093\/brain\/108.4.897","article-title":"Qualitative and quantitative morphology of human sural nerve at different ages","volume":"108","author":"Jacobs","year":"1985","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.04.002_bib0021","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00690643","article-title":"The normal sural nerve in man. II. Changes in the axons and Schwann cells due to ageing","volume":"13","author":"Ochoa","year":"1969","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0022","first-page":"95","article-title":"Behaviour of peripheral nerve structures in chronic neuropathies, with special reference to the Schwann cell","volume":"102","author":"Ochoa","year":"1967","journal-title":"J Anat"},{"key":"10.1016\/j.nmd.2022.04.002_bib0023","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.jns.2018.09.011","article-title":"The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: an ultrastructural study","volume":"394","author":"Koike","year":"2018","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2022.04.002_bib0024","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"},{"key":"10.1016\/j.nmd.2022.04.002_bib0025","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.nmd.2009.01.006","article-title":"The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy","volume":"19","author":"Houlden","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2022.04.002_bib0026","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1097\/NEN.0000000000000047","article-title":"Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy","volume":"73","author":"Mathis","year":"2014","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0027","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1136\/jnnp-2019-322479","article-title":"Ultrastructural mechanisms of macrophage-induced demyelination in Guillain-Barr\u00e9 syndrome","volume":"91","author":"Koike","year":"2020","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2022.04.002_bib0028","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1007\/BF00686858","article-title":"Onion bulb neuropathy in the trembler mouse: a model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man","volume":"25","author":"Ayers","year":"1973","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0029","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/356241a0","article-title":"Trembler mouse carries a point mutation in a myelin gene","volume":"356","author":"Suter","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2022.04.002_bib0030","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1002\/jnr.490420602","article-title":"Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development","volume":"42","author":"Baechner","year":"1995","journal-title":"J Neurosci Res"},{"key":"10.1016\/j.nmd.2022.04.002_bib0031","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1097\/00005072-199603000-00004","article-title":"Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A","volume":"55","author":"Haney","year":"1996","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0032","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.nmd.2012.12.005","article-title":"Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse","volume":"23","author":"Madrid","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2022.04.002_bib0033","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.nmd.2016.01.004","article-title":"Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion","volume":"26","author":"Jouaud","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2022.04.002_bib0034","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.nbd.2012.08.009","article-title":"An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease","volume":"49","author":"Kinter","year":"2013","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.nmd.2022.04.002_bib0035","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1111\/j.1471-4159.1993.tb09840.x","article-title":"Human peripheral myelin protein-22 carries the L2\/HNK-1 carbohydrate adhesion epitope","volume":"61","author":"Snipes","year":"1993","journal-title":"J Neurochem"},{"key":"10.1016\/j.nmd.2022.04.002_bib0036","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/jnr.23326","article-title":"Paranodal dysmyelination in peripheral nerves of Trembler mice","volume":"92","author":"Rosenbluth","year":"2014","journal-title":"J Neurosci Res"},{"key":"10.1016\/j.nmd.2022.04.002_bib0037","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.1007\/s00415-019-09319-8","article-title":"Hereditary neuropathy with liability to pressure palsies","volume":"267","author":"Attarian","year":"2020","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2022.04.002_bib0038","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1007\/s13760-020-01355-w","article-title":"Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A","volume":"121","author":"Bjelica","year":"2021","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.nmd.2022.04.002_bib0039","doi-asserted-by":"crossref","DOI":"10.1016\/j.brainres.2019.146491","article-title":"Regulating PMP22 expression as a dosage sensitive neuropathy gene","volume":"1726","author":"Pantera","year":"2020","journal-title":"Brain Res"},{"key":"10.1016\/j.nmd.2022.04.002_bib0040","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1038\/s41467-021-22593-3","article-title":"AAV2\/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1\u2009A","volume":"12","author":"Gautier","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.nmd.2022.04.002_bib0041","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1002\/ana.25480","article-title":"Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies","volume":"85","author":"Svaren","year":"2019","journal-title":"Ann Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662200102X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662200102X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:11:43Z","timestamp":1760775103000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089662200102X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":41,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["S096089662200102X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2022.04.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2022.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}