{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T00:51:44Z","timestamp":1793235104507,"version":"4.5.0"},"reference-count":30,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"published-print":{"date-parts":[[2015,8]]},"DOI":"10.1136\/jnnp-2014-308826","type":"journal-article","created":{"date-parts":[[2014,11,28]],"date-time":"2014-11-28T10:54:34Z","timestamp":1417172074000},"page":"873-878","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":326,"title":["CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis"],"prefix":"10.1136","volume":"86","author":[{"given":"V","family":"Fridman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Bundy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M M","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Pareyson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Bacon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Burns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Feely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R S","family":"Finkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Grider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C A","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D N","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Laur\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Lloyd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C J","family":"Sumner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Piscosquito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4346-5719","authenticated-orcid":false,"given":"S","family":"Ramchandren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Shy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E","family":"Siskind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S W","family":"Yum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Moroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Pagliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Zuchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S S","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"Shy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2014,11,27]]},"reference":[{"key":"key-10.1136\/jnnp-2014-308826-1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth's disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin Genet"},{"key":"key-10.1136\/jnnp-2014-308826-2","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/nrneurol.2013.179","article-title":"Clinical implications of genetic advances in Charcot-Marie-Tooth disease","volume":"9","author":"Rossor","year":"2013","journal-title":"Nat Rev Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-3","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","article-title":"Reliability and validity of the CMT neuropathy score as a measure of disability","volume":"64","author":"Shy","year":"2005","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308826-4","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1212\/01.wnl.0000297553.36441.ce","article-title":"Neuropathy progression in Charcot-Marie-Tooth disease type 1A","volume":"70","author":"Shy","year":"2008","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308826-5","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S1474-4422(11)70025-4","article-title":"Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial","volume":"10","author":"Pareyson","year":"2011","journal-title":"Lancet Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-6","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1001\/jamaneurol.2013.3178","article-title":"High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial","volume":"70","author":"Lewis","year":"2013","journal-title":"JAMA Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-7","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1212\/01.wnl.0000256709.08271.4d","article-title":"CMT1X phenotypes represent loss of GJB1 gene function","volume":"68","author":"Shy","year":"2007","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308826-8","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1212\/WNL.0b013e31821a441e","article-title":"MFN2 mutations cause severe phenotypes in most patients with CMT2A","volume":"76","author":"Feely","year":"2011","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308826-9","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/brain\/awh048","article-title":"Phenotypic clustering in MPZ mutations","volume":"127","author":"Shy","year":"2004","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-308826-10","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot-Marie-Tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-11","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":"key-10.1136\/jnnp-2014-308826-12","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0692-171","article-title":"The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication","volume":"1","author":"Timmerman","year":"1992","journal-title":"Nat Genet"},{"key":"key-10.1136\/jnnp-2014-308826-13","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1016\/B978-0-7216-9491-7.50072-7","article-title":"The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features","volume-title":"Peripheral neuropathy","author":"Shy","year":"2005","edition":"4"},{"key":"key-10.1136\/jnnp-2014-308826-14","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1136\/jnnp-2012-302451","article-title":"Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing","volume":"83","author":"Murphy","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.1136\/jnnp-2014-308826-15","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/j.1085-9489.2006.00080.x","article-title":"SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations","volume":"11","author":"Latour","year":"2006","journal-title":"J Peripher Nerv Syst"},{"key":"key-10.1136\/jnnp-2014-308826-16","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.nmd.2013.05.005","article-title":"Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population","volume":"23","author":"Gess","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"key-10.1136\/jnnp-2014-308826-17","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/B978-0-444-52902-2.00012-6","article-title":"DNA testing in hereditary neuropathies","volume":"115","author":"Murphy","year":"2013","journal-title":"Handb Clin Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-18","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/j.1399-0004.2011.01657.x","article-title":"Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients","volume":"80","author":"Karadima","year":"2011","journal-title":"Clin Genet"},{"key":"key-10.1136\/jnnp-2014-308826-19","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1468-1331.2010.03037.x","article-title":"Genetic epidemiology of Charcot-Marie-Tooth in the general population","volume":"18","author":"Braathen","year":"2011","journal-title":"Eur J Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-20","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1212\/WNL.0b013e3182a9f56a","article-title":"Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series","volume":"81","author":"Sivera","year":"2013","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308826-21","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1038\/jhg.2011.20","article-title":"Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan","volume":"56","author":"Abe","year":"2011","journal-title":"J Hum Genet"},{"key":"key-10.1136\/jnnp-2014-308826-22","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.lpm.2008.07.013","article-title":"[Charcot-Marie-Tooth disease]","volume":"38","author":"Birouk","year":"2009","journal-title":"Presse Med"},{"key":"key-10.1136\/jnnp-2014-308826-23","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1529-8027.2011.00350.x","article-title":"Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease","volume":"16","author":"Murphy","year":"2011","journal-title":"J Peripher Nerv Syst"},{"key":"key-10.1136\/jnnp-2014-308826-24","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/mus.23991","article-title":"Genetic testing practices for Charcot-Marie-Tooth type 1A disease","volume":"49","author":"Tousignant","year":"2014","journal-title":"Muscle Nerve"},{"key":"key-10.1136\/jnnp-2014-308826-25","doi-asserted-by":"crossref","unstructured":"Sadjadi R , Shy M , Reilly M , et al. Psychometric evaluation of Charcot-Marie-Tooth disease (CMT) neuropathy score CMTNS) version 2.0 using Rasch analysis (Abstract). J Peripher Nerv Syst 2014 Nov 14. doi:10.1111\/jns.12084","DOI":"10.1111\/jns.12084"},{"key":"key-10.1136\/jnnp-2014-308826-26","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1002\/ana.23572","article-title":"Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability","volume":"71","author":"Burns","year":"2012","journal-title":"Ann Neurol"},{"key":"key-10.1136\/jnnp-2014-308826-27","unstructured":"Ramchandren S , Shy M , Feldman E , et al. Defining disability: patient and health care provider perspectives in Charcot Marie Tooth disease. J Neurol Neurosurg Psychiatry 2015;86:6359."},{"key":"key-10.1136\/jnnp-2014-308826-28","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/brain\/120.3.465","article-title":"The phenotypic manifestations of chromosome 17p11.2 duplication","volume":"120","author":"Thomas","year":"1997","journal-title":"Brain"},{"issue":"(Suppl 3)","key":"key-10.1136\/jnnp-2014-308826-29","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1529-8027.2012.00424.x","article-title":"X-linked Charcot-Marie-Tooth disease","volume":"17","author":"Scherer","year":"2012","journal-title":"J Peripher Nerv Syst"},{"key":"key-10.1136\/jnnp-2014-308826-30","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1529-8027.2011.00332.x","article-title":"Phenotype expression in women with CMT1X","volume":"16","author":"Siskind","year":"2011","journal-title":"J Peripher Nerv Syst"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2014-308826","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T13:56:40Z","timestamp":1601042200000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2014-308826"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,27]]},"references-count":30,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2015,7,14]]},"published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1136\/jnnp-2014-308826"],"URL":"https:\/\/doi.org\/10.1136\/jnnp-2014-308826","relation":{},"ISSN":["0022-3050","1468-330X"],"issn-type":[{"value":"0022-3050","type":"print"},{"value":"1468-330X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,27]]}}}