{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T10:11:49Z","timestamp":1768299109087,"version":"3.49.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,11]]},"DOI":"10.7759\/cureus.64335","type":"journal-article","created":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T15:21:09Z","timestamp":1720711269000},"source":"Crossref","is-referenced-by-count":1,"title":["Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation"],"prefix":"10.7759","author":[{"given":"Ali","family":"Almarzooqi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","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 V","year":"2015","unstructured":"Fridman V, Bundy B, Reilly MM, et al.. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015, 86:873-878. 10.1136\/jnnp-2014-308826","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000095960.48964.25","article-title":"The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem","volume":"61","author":"Taylor RA","year":"2003","unstructured":"Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology. 2003, 61:1475-1478. 10.1212\/01.wnl.0000095960.48964.25","journal-title":"Neurology"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2014.10.033","article-title":"Connexins, gap junctions and peripheral neuropathy","volume":"596","author":"Kleopa KA","year":"2015","unstructured":"Kleopa KA, Sargiannidou I. Connexins, gap junctions and peripheral neuropathy. Neurosci Lett. 2015, 596:27-32. 10.1016\/j.neulet.2014.10.033","journal-title":"Neurosci Lett"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22166","article-title":"Charcot-Marie-Tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta AS","year":"2011","unstructured":"Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011, 69:22-33. 10.1002\/ana.22166","journal-title":"Ann Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51271","article-title":"Systematic review of CMTX1 patients with episodic neurological dysfunction","volume":"8","author":"Tian D","year":"2021","unstructured":"Tian D, Zhao Y, Zhu R, Li Q, Liu X. Systematic review of CMTX1 patients with episodic neurological dysfunction. Ann Clin Transl Neurol. 2021, 8:213-223. 10.1002\/acn3.51271","journal-title":"Ann Clin Transl Neurol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.07.023","article-title":"Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy","volume":"12","author":"Gonzaga-Jauregui C","year":"2015","unstructured":"Gonzaga-Jauregui C, Harel T, Gambin T, et al.. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep. 2015, 12:1169-1183. 10.1016\/j.celrep.2015.07.023","journal-title":"Cell Rep"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000131","article-title":"Recent advances in Charcot-Marie-Tooth disease","volume":"27","author":"Baets J","year":"2014","unstructured":"Baets J, De Jonghe P, Timmerman V. Recent advances in Charcot-Marie-Tooth disease. Curr Opin Neurol. 2014, 27:532-540. 10.1097\/WCO.0000000000000131","journal-title":"Curr Opin Neurol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.07.001","article-title":"Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease","volume":"33","author":"Pisciotta C","year":"2023","unstructured":"Pisciotta C, Pareyson D. Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease. Neuromuscul Disord. 2023, 33:627-635. 10.1016\/j.nmd.2023.07.001","journal-title":"Neuromuscul Disord"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24824","article-title":"Cerebral white matter abnormalities in patients with charcot-marie-tooth disease","volume":"81","author":"Lee M","year":"2017","unstructured":"Lee M, Park CH, Chung HK, et al.. Cerebral white matter abnormalities in patients with charcot-marie-tooth disease. Ann Neurol. 2017, 81:147-151. 10.1002\/ana.24824","journal-title":"Ann Neurol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/270853-charcot-marie-tooth-disease-with-leukodystrophy-an-atypical-presentation","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T15:21:13Z","timestamp":1720711273000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/270853-charcot-marie-tooth-disease-with-leukodystrophy-an-atypical-presentation"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,11]]},"references-count":9,"URL":"https:\/\/doi.org\/10.7759\/cureus.64335","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,7,11]]}}}