{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:37Z","timestamp":1791098857369,"version":"4.1.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.jns.2013.08.001","type":"journal-article","created":{"date-parts":[[2013,8,9]],"date-time":"2013-08-09T22:41:35Z","timestamp":1376088095000},"page":"176-179","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mild phenotype of Charcot\u2013Marie\u2013Tooth disease type 4B1"],"prefix":"10.1016","volume":"334","author":[{"given":"Tatsufumi","family":"Murakami","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumiko","family":"Kutoku","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotake","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihide","family":"Sunada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2013.08.001_bb0005","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1097\/00005792-199609000-00001","article-title":"Charcot\u2013Marie\u2013Tooth disease and related inherited neuropathies","volume":"75","author":"Murakami","year":"1996","journal-title":"Medicine"},{"key":"10.1016\/j.jns.2013.08.001_bb0010","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/S1474-4422(09)70110-3","article-title":"Diagnosis, natural history, and management of Charcot\u2013Marie\u2013Tooth disease","volume":"8","author":"Pareyson","year":"2009","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jns.2013.08.001_bb0015","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1038\/jhg.2011.20","article-title":"Molecular diagnosis and clinical onset of Charcot\u2013Marie\u2013Tooth disease in Japan","volume":"56","author":"Abe","year":"2011","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jns.2013.08.001_bb0020","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot\u2013Marie\u2013Tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2013.08.001_bb0025","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/75542","article-title":"Charcot\u2013Marie\u2013Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2","volume":"25","author":"Bolino","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.jns.2013.08.001_bb0030","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1093\/brain\/124.5.907","article-title":"Mutations in the 5\u2032 region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin","volume":"124","author":"Houlden","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.jns.2013.08.001_bb0035","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/S0960-8966(02)00046-9","article-title":"A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot\u2013Marie\u2013Tooth disease with irregularly folded myelin sheaths","volume":"12","author":"Nelis","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jns.2013.08.001_bb0040","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1093\/brain\/awh275","article-title":"Clinicopathological and genetic study of early-onset demyelinating neuropathy","volume":"127","author":"Parman","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.jns.2013.08.001_bb0045","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.nmd.2011.04.013","article-title":"Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot\u2013Marie\u2013Tooth disease phenotypes","volume":"21","author":"Nouioua","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jns.2013.08.001_bb0050","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/jhg.2013.15","article-title":"Molecular analysis of the genes causing recessive demyelinating Charcot\u2013Marie\u2013Tooth disease in Japan","volume":"58","author":"Hayashi","year":"2013","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jns.2013.08.001_bb0055","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1093\/hmg\/ddg179","article-title":"Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve","volume":"12","author":"Previtali","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jns.2013.08.001_bb0060","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1212\/WNL.46.5.1318","article-title":"Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family","volume":"46","author":"Quattrone","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2013.08.001_bb0065","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1212\/01.WNL.0000142082.65144.EE","article-title":"Coincidence of two genetic forms of Charcot\u2013Marie\u2013Tooth disease in a single family","volume":"63","author":"Verny","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2013.08.001_bb0070","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1007\/s12035-007-0031-0","article-title":"Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system","volume":"35","author":"Bolis","year":"2007","journal-title":"Mol Neurobiol"},{"key":"10.1016\/j.jns.2013.08.001_bb0075","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1083\/jcb.200407010","article-title":"Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis","volume":"167","author":"Bolino","year":"2004","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jns.2013.08.001_bb0080","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1212\/WNL.52.6.1271","article-title":"A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths","volume":"52","author":"Nakagawa","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2013.08.001_bb0085","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1093\/hmg\/ddi400","article-title":"An animal model for Charcot\u2013Marie\u2013Tooth disease type 4B1","volume":"14","author":"Bonneick","year":"2005","journal-title":"Hum Mol Genet"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13028499?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13028499?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T02:25:25Z","timestamp":1539483925000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X13028499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":17,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0022510X13028499"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2013.08.001","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mild phenotype of Charcot\u2013Marie\u2013Tooth disease type 4B1","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2013.08.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}