{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:59:27Z","timestamp":1791143967050,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH078194"],"award-info":[{"award-number":["R01MH078194"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R43 NS073311"],"award-info":[{"award-number":["R43 NS073311"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R43NS065555"],"award-info":[{"award-number":["R43NS065555"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RC1 NS068131"],"award-info":[{"award-number":["RC1 NS068131"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016650","name":"Rare Diseases Clinical Research Network","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016650","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Neurology"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.expneurol.2014.10.005","type":"journal-article","created":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T05:43:35Z","timestamp":1414647815000},"page":"190-199","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":134,"special_numbering":"C","title":["Axonal Charcot\u2013Marie\u2013Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties"],"prefix":"10.1016","volume":"263","author":[{"given":"Mario A.","family":"Saporta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vu","family":"Dang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitri","family":"Volfson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bende","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinmin (Simon)","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adijat","family":"Adebola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald K.","family":"Liem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Shy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T.","family":"Dimos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.expneurol.2014.10.005_bb0005","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1523\/JNEUROSCI.4798-06.2007","article-title":"Altered axonal mitochondrial transport in the pathogenesis of Charcot\u2013Marie\u2013Tooth disease from mitofusin 2 mutations","volume":"27","author":"Baloh","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0010","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/nature09915","article-title":"Modelling schizophrenia using human induced pluripotent stem cells","volume":"473","author":"Brennand","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0015","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.mcn.2013.07.007","article-title":"A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells","volume":"56","author":"Burkhardt","year":"2013","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0020","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S1474-4422(09)70108-5","article-title":"Ascorbic acid for Charcot\u2013Marie\u2013Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial","volume":"8","author":"Burns","year":"2009","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0025","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/nbt.1529","article-title":"Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling","volume":"27","author":"Chambers","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0030","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1038\/nm.2396","article-title":"HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot\u2013Marie\u2013Tooth disease","author":"d'Ydewalle","year":"2011","journal-title":"Nat. Med."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0035","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1126\/science.1158799","article-title":"Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons","volume":"321","author":"Dimos","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0040","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/nature07677","article-title":"Induced pluripotent stem cells from a spinal muscular atrophy patient","volume":"457","author":"Ebert","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0045","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1096\/fj.11-196345","article-title":"Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot\u2013Marie\u2013Tooth disease","volume":"26","author":"Gentil","year":"2012","journal-title":"FASEB J."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0050","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1212\/WNL.0b013e3182574f12","article-title":"Nav1.7-related small fiber neuropathy: impaired slow-inactivation and DRG neuron hyperexcitability","volume":"78","author":"Han","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0055","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/brain\/103.2.259","article-title":"The clinical features of hereditary motor and sensory neuropathy types I and II","volume":"103","author":"Harding","year":"1980","journal-title":"Brain"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0060","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1523\/JNEUROSCI.4562-06.2007","article-title":"Functional neural development from human embryonic stem cells: accelerated synaptic activity via astrocyte coculture","volume":"27","author":"Johnson","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0065","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/mt.2009.274","article-title":"Complete genetic correction of iPS cells from Duchenne muscular dystrophy","volume":"18","author":"Kazuki","year":"2010","journal-title":"Mol. Ther."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0070","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1152\/jn.00665.2003","article-title":"Hyperexcitability of cultured spinal motoneurons from presymptomatic ALS mice","volume":"91","author":"Kuo","year":"2004","journal-title":"J. Neurophysiol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0075","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng.512","article-title":"Mutations in TRPV4 cause Charcot\u2013Marie\u2013Tooth disease type 2C","volume":"42","author":"Landour\u00e9","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0080","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/nature08320","article-title":"Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs","volume":"461","author":"Lee","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0085","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1001\/jamaneurol.2013.3178","article-title":"High-dosage ascorbic acid treatment in Charcot\u2013Marie\u2013Tooth disease type 1A: results of a randomized, double-masked, controlled trial","volume":"70","author":"Lewis","year":"2013","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0090","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1113\/jphysiol.2007.133488","article-title":"Early alterations in the electrophysiological properties of rat spinal motoneurones following neonatal axotomy","volume":"582","author":"Mentis","year":"2007","journal-title":"J. Physiol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0095","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1086\/302962","article-title":"A new variant of Charcot\u2013Marie\u2013Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene","volume":"67","author":"Mersiyanova","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0100","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/S1474-4422(09)70260-1","article-title":"Effect of ascorbic acid in patients with Charcot\u2013Marie\u2013Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial","volume":"8","author":"Micallef","year":"2009","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0105","doi-asserted-by":"crossref","first-page":"4232","DOI":"10.1523\/JNEUROSCI.6248-09.2010","article-title":"Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro\/Milton complex","volume":"30","author":"Misko","year":"2010","journal-title":"J. Neurosci."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0110","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1523\/JNEUROSCI.6338-11.2012","article-title":"Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration","volume":"32","author":"Misko","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0115","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1159\/000472166","article-title":"Estimation of the mutation frequencies in Charcot\u2013Marie\u2013Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study","volume":"4","author":"Nelis","year":"1996","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0120","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S1474-4422(11)70025-4","article-title":"Ascorbic acid in Charcot\u2013Marie\u2013Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial","volume":"10","author":"Pareyson","year":"2011","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0125","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/nm1023","article-title":"Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot\u2013Marie\u2013Tooth disease","volume":"10","author":"Passage","year":"2004","journal-title":"Nat. Med."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0130","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1093\/hmg\/ddh236","article-title":"Phenotypic analysis of neurofilament light gene mutations linked to Charcot\u2013Marie\u2013Tooth disease in cell culture models","volume":"13","author":"Perez-Olle","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0135","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/j.1471-4159.2005.03095.x","article-title":"Mutations in the neurofilament light gene linked to Charcot\u2013Marie\u2013Tooth disease cause defects in transport","volume":"93","author":"P\u00e9rez-Oll\u00e9","year":"2005","journal-title":"J. Neurochem."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0145","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.ncl.2013.01.009","article-title":"Inherited peripheral neuropathies","volume":"31","author":"Saporta","year":"2013","journal-title":"Neurol. Clin."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0140","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/scrt78","article-title":"Induced pluripotent stem cells in the study of neurological diseases","volume":"2","author":"Saporta","year":"2011","journal-title":"Stem Cell Res. Ther."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0155","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0150","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.expneurol.2014.10.005_bb0160","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.celrep.2014.03.019","article-title":"Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons","volume":"7","author":"Wainger","year":"2014","journal-title":"Cell Rep."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0165","doi-asserted-by":"crossref","first-page":"3314","DOI":"10.1152\/jn.00566.2006","article-title":"Voltage-dependent sodium channels in spinal cord motor neurons display rapid recovery from fast inactivation in a mouse model of amyotrophic lateral sclerosis","volume":"96","author":"Zona","year":"2006","journal-title":"J. Neurophysiol."},{"key":"10.1016\/j.expneurol.2014.10.005_bb0170","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot\u2013Marie\u2013Tooth neuropathy type 2A","volume":"36","author":"Z\u00fcchner","year":"2004","journal-title":"Nat. Genet."}],"container-title":["Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014488614003410?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014488614003410?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T10:14:00Z","timestamp":1772100840000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014488614003410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":34,"alternative-id":["S0014488614003410"],"URL":"https:\/\/doi.org\/10.1016\/j.expneurol.2014.10.005","relation":{},"ISSN":["0014-4886"],"issn-type":[{"value":"0014-4886","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Axonal Charcot\u2013Marie\u2013Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties","name":"articletitle","label":"Article Title"},{"value":"Experimental Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.expneurol.2014.10.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}