{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:44:36Z","timestamp":1758123876738,"version":"3.37.3"},"reference-count":79,"publisher":"Georg Thieme Verlag KG","issue":"10","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature. Its prevalence varies according to different populations studied, with an estimate between 1:2,500 to 1:10,000. Since the identification of PMP22 gene duplication on chromosome 17 by Vance et al., in 1989, more than 100 genes have been related to this group of disorders, and we have seen advances in the care of patients, with identification of associated conditions and better supportive treatments, including clinical and surgical interventions. Also, with discoveries in the field of genetics, including RNA interference and gene editing techniques, new treatment perspectives begin to emerge. In the present work, we report the most import landmarks regarding CMT research in Brazil and provide a comprehensive review on topics such as frequency of different genes associated with CMT in our population, prevalence of pain, impact on pregnancy, respiratory features, and development of new therapies.<\/jats:p>","DOI":"10.1055\/s-0043-1770348","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T23:08:46Z","timestamp":1692832126000},"page":"913-921","source":"Crossref","is-referenced-by-count":3,"title":["Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives"],"prefix":"10.1055","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7763-7745","authenticated-orcid":false,"given":"Eduardo Boiteux Uch\u00f4a","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o, Unidade Lago Norte, Ambulat\u00f3rio de Doen\u00e7as Neuromusculares, Bras\u00edlia DF, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2012-9533","authenticated-orcid":false,"given":"Rita de C\u00e1ssia Carvalho","family":"Leal","sequence":"additional","affiliation":[{"name":"Berenstein Medicina Diagn\u00f3stica, Recife PE, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4589-2749","authenticated-orcid":false,"given":"Wilson","family":"Marques Junior","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina de Ribeir\u00e3o Preto, Departamento de Neurologia, Ribeir\u00e3o Preto SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3516-485X","authenticated-orcid":false,"given":"Osvaldo Jos\u00e9 Moreira do","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Universidade Federal Fluminense, Faculdade de Medicina, Servi\u00e7o de Neurologia, Niter\u00f3i RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"issue":"10","key":"ref1","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1136\/jnnp-2016-313960","article-title":"Peripheral neuropathy in complex inherited diseases: an approach to diagnosis","volume":"88","author":"A M Rossor","year":"2017","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"05","key":"ref2","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1097\/WCO.0000000000000735","article-title":"Charcot-Marie-Tooth disease and related disorders: an evolving landscape","volume":"32","author":"M Laur\u00e1","year":"2019","journal-title":"Curr Opin Neurol"},{"key":"ref3","first-page":"1208","article-title":"Charcot-Marie-Tooth disease and other inherited neuropathies","volume":"20","author":"M A Saporta","year":"2014","journal-title":"Continuum (Minneap Minn)"},{"issue":"07","key":"ref4","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":"S M Murphy","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jnnp-2018-318839","article-title":"Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan","volume":"90","author":"A Yoshimura","year":"2019","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/S0014-4886(89)80013-5","article-title":"Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17","volume":"104","author":"J M Vance","year":"1989","journal-title":"Exp Neurol"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1136\/jnnp-2018-318834","article-title":"Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development","volume":"90","author":"M Juneja","year":"2019","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"03","key":"ref8","first-page":"207","article-title":"Charcot-Marie-Tooth disease and hereditary motor neuropathies \u2013 Update 2020","volume":"32","author":"S Rudnik-Sch\u00f6neborn","year":"2020","journal-title":"Med Genetik"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"e51","DOI":"10.1212\/WNL.0000000000008672","article-title":"Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease","volume":"94","author":"A Cortese","year":"2020","journal-title":"Neurology"},{"issue":"04","key":"ref10","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1136\/jmedgenet-2019-106641","article-title":"Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients","volume":"58","author":"M Volodarsky","year":"2021","journal-title":"J Med Genet"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1097\/WCO.0000000000000373","article-title":"Recent advances in the genetic neuropathies","volume":"29","author":"A M Rossor","year":"2016","journal-title":"Curr Opin Neurol"},{"issue":"11","key":"ref12","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","article-title":"Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges","volume":"15","author":"M Pipis","year":"2019","journal-title":"Nat Rev Neurol"},{"issue":"03","key":"ref13","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1111\/jns.12458","article-title":"Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center","volume":"26","author":"E B Uch\u00f4a Cavalcanti","year":"2021","journal-title":"J Peripheral Nervous System"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"146459","DOI":"10.1016\/j.brainres.2019.146459","article-title":"Genetic modifiers and non-Mendelian aspects of CMT","volume":"1726","author":"D M Bis-Brewer","year":"2020","journal-title":"Brain Res"},{"issue":"04","key":"ref15","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1007\/s13311-021-01145-z","article-title":"Mechanisms and Treatments in Demyelinating CMT","volume":"18","author":"V Fridman","year":"2021","journal-title":"Neurotherapeutics"},{"issue":"13","key":"ref16","doi-asserted-by":"crossref","first-page":"6755","DOI":"10.3390\/ijms22136755","article-title":"Therapeutic development in charcot marie tooth type 1 disease","volume":"22","author":"P Miniou","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"01","key":"ref17","first-page":"43","article-title":"Poss\u00edvel parentesco entre as mol\u00e9stias familiares com les\u00f5es predominantes na medula e mol\u00e9stias familiares com les\u00f5es no neur\u00f4nio perif\u00e9rico. Arq Neuropsiquiatr","volume":"1","author":"P W Longo","year":"1943"},{"volume-title":"Cl\u00ednica Neurol\u00f3gica","year":"1944","author":"Deolindo Augusto de Nunes Couto","key":"ref18"},{"issue":"02","key":"ref19","first-page":"131","article-title":"Mol\u00e9stia de Charcot-Marie-Tooth: conceito cl\u00ednico-patol\u00f3gico atual. Arq Neuropsiquiatr","volume":"20","author":"J A Levy","year":"1962"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1590\/S0004-282X1999000200004","article-title":"Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family","volume":"57","author":"W O Arruda","year":"1999","journal-title":"Arq Neuropsiquiatr"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1590\/S0004-282X1995000400001","article-title":"Doen\u00e7a de Charcot-Marie-Tooth: estudo cl\u00ednico em 45 pacientes","volume":"53","author":"M RG de Freitas","year":"1995","journal-title":"Arq Neuropsiquiatr"},{"issue":"02","key":"ref22","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1590\/S0004-282X1980000200013","article-title":"Doen\u00e7a de Charcot-Marie-Tooth associada a malforma\u00e7\u00e3o de Klippel-Feil: registro de um caso e revis\u00e3o da literatura","volume":"38","author":"C de A Viegas","year":"1980","journal-title":"Arq Neuropsiquiatr"},{"issue":"03","key":"ref23","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1590\/S0004-282X1982000300011","article-title":"Amiotrofia neuro-medular de Charcot-Marie-Tooth associada a artrogripose multipla congenita: registro de um caso e revis\u00e3o da literatura","volume":"40","author":"J P de Mattos","year":"1982","journal-title":"Arq Neuropsiquiatr"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1590\/S0004-282X1995000400003","article-title":"Doen\u00e7a de Charcot-Marie-Tooth: estudo da bi\u00f3psia do nervo sural em 41 pacientes","volume":"53","author":"M RG Freitas","year":"1995","journal-title":"Arq Neuropsiquiatr"},{"issue":"08","key":"ref25","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1007\/s00415-005-0797-9","article-title":"17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population","volume":"252","author":"W Marques Jr","year":"2005","journal-title":"J Neurol"},{"issue":"08","key":"ref26","doi-asserted-by":"crossref","first-page":"563","DOI":"10.3109\/00207454.2013.782026","article-title":"North America and South America (NA-SA) neuropathy project","volume":"123","author":"M Pasnoor","year":"2013","journal-title":"Int J Neurosci"},{"issue":"02","key":"ref27","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/cge.13793","article-title":"Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies","volume":"98","author":"J PD Padilha","year":"2020","journal-title":"Clin Genet"},{"issue":"06","key":"ref28","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.nmd.2021.03.005","article-title":"GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease","volume":"31","author":"F B Figueiredo","year":"2021","journal-title":"Neuromuscul Disord"},{"issue":"03","key":"ref29","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.rehab.2012.02.005","article-title":"Pain assessment in Charcot-Marie-Tooth (CMT) disease","volume":"55","author":"C Ribiere","year":"2012","journal-title":"Ann Phys Rehabil Med"},{"issue":"03","key":"ref30","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/mus.24169","article-title":"Pain and small fiber function in Charcot-Marie-Tooth disease type 1A","volume":"50","author":"M Laur\u00e0","year":"2014","journal-title":"Muscle Nerve"},{"issue":"03","key":"ref31","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s10072-019-04142-5","article-title":"Neuropathic pain in patients with Charcot-Marie-Tooth type 1A","volume":"41","author":"B Bjelica","year":"2020","journal-title":"Neurol Sci"},{"issue":"04","key":"ref32","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/ejp.1922","article-title":"Neuropathic pain in Charcot-Marie-Tooth disease: A clinical and laser-evoked potential study","volume":"26","author":"A Peretti","year":"2022","journal-title":"Eur J Pain"},{"issue":"09","key":"ref33","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1212\/WNL.0000000000000173","article-title":"Effect of pain in pediatric inherited neuropathies","volume":"82","author":"S Ramchandren","year":"2014","journal-title":"Neurology"},{"issue":"05","key":"ref34","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1590\/0004-282x-anp-2020-0132","article-title":"Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A","volume":"79","author":"H Azevedo","year":"2021","journal-title":"Arq Neuropsiquiatr"},{"issue":"10","key":"ref35","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.nmd.2009.07.004","article-title":"What we do not know about pregnancy in hereditary neuromuscular disorders","volume":"19","author":"Z Argov","year":"2009","journal-title":"Neuromuscul Disord"},{"issue":"03","key":"ref36","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1212\/01.WNL.0000150933.65709.96","article-title":"Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease","volume":"64","author":"J M Hoff","year":"2005","journal-title":"Neurology"},{"key":"ref37","doi-asserted-by":"crossref","DOI":"10.1093\/med\/9780190667351.003.0025","volume-title":"Charcot-Marie-Tooth Disease and Pregnancy","author":"P D Creigh","year":"2018"},{"issue":"11","key":"ref38","first-page":"393","article-title":"Charcot-Marie-Tooth disease and pregnancy: report of a case","volume":"125","author":"J H Bellina","year":"1973","journal-title":"J La State Med Soc"},{"issue":"11","key":"ref39","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1212\/WNL.32.11.1311","article-title":"Exacerbation of Charcot-Marie-tooth disease in pregnancy","volume":"32","author":"M Pollock","year":"1982","journal-title":"Neurology"},{"issue":"24","key":"ref40","doi-asserted-by":"crossref","first-page":"e3180","DOI":"10.1212\/WNL.0000000000010860","article-title":"Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry","volume":"95","author":"C Pisciotta","year":"2020","journal-title":"Neurology"},{"issue":"03","key":"ref41","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1097\/00000542-198703000-00028","article-title":"Anesthetic management for cesarean section of a patient with Charcot-Marie-Tooth disease","volume":"66","author":"J E Brian Jr","year":"1987","journal-title":"Anesthesiology"},{"issue":"08","key":"ref42","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1111\/ene.14317","article-title":"Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany","volume":"27","author":"S Rudnik-Sch\u00f6neborn","year":"2020","journal-title":"Eur J Neurol"},{"volume-title":"Influ\u00eancia da gravidez sobre a neuropatia de pacientes com a doen\u00e7a de Charcot-Marie-Tooth tipo 1A","year":"2016","author":"R de CC Leal","key":"ref43"},{"issue":"11","key":"ref45","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1212\/01.wnl.0000256818.43819.da","article-title":"Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A","volume":"68","author":"E R Swan","year":"2007","journal-title":"Neurology"},{"issue":"02","key":"ref46","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejogrb.2012.02.020","article-title":"Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients","volume":"162","author":"C Awater","year":"2012","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"issue":"10","key":"ref47","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1212\/WNL.43.10.2011","article-title":"Pregnancy and delivery in Charcot-Marie-Tooth disease type 1","volume":"43","author":"S Rudnik-Sch\u00f6neborn","year":"1993","journal-title":"Neurology"},{"issue":"06","key":"ref48","doi-asserted-by":"crossref","first-page":"e005671","DOI":"10.1136\/bmjgh-2021-005671","article-title":"Trends and projections of caesarean section rates: global and regional estimates","volume":"6","author":"A P Betran","year":"2021","journal-title":"BMJ Glob Health"},{"issue":"12","key":"ref49","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1111\/j.1471-0528.2006.01143.x","article-title":"Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome","volume":"113","author":"J Grace","year":"2006","journal-title":"BJOG"},{"issue":"10","key":"ref50","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1093\/molehr\/4.10.978","article-title":"Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A","volume":"4","author":"A De Vos","year":"1998","journal-title":"Mol Hum Reprod"},{"key":"ref51","first-page":"163","article-title":"Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease. Clin Exp Reprod Med","volume":"40","author":"H S Lee","year":"2013","journal-title":"The Korean Society for Reproductive Medicine"},{"issue":"07","key":"ref52","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1093\/molehr\/gag054","article-title":"Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A","volume":"9","author":"A De Vos","year":"2003","journal-title":"Mol Hum Reprod"},{"issue":"08","key":"ref53","first-page":"637","article-title":"[Respiratory failure due to diaphragmatic dysfunction in Charcot-Marie-Tooth disease: a case report]","volume":"38","author":"S Hatakeyama","year":"2000","journal-title":"Nihon Kokyuki Gakkai Zasshi. Japan"},{"issue":"11","key":"ref54","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.2169\/internalmedicine.31.1267","article-title":"Charcot-Marie-Tooth disease with diaphragmatic weakness","volume":"31","author":"S Osanai","year":"1992","journal-title":"Intern Med"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"3051","DOI":"10.1093\/brain\/awn228","article-title":"Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy","volume":"131","author":"T Sevilla","year":"2008","journal-title":"Brain"},{"issue":"06","key":"ref56","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1001\/archinte.1989.00390060109023","article-title":"Respiratory muscle weakness in Charcot-Marie-Tooth disease. A field study","volume":"149","author":"B N Nathanson","year":"1989","journal-title":"Arch Intern Med"},{"issue":"05","key":"ref57","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1007\/s00415-015-7733-4","article-title":"Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A","volume":"262","author":"M de Carvalho Alc\u00e2ntara","year":"2015","journal-title":"J Neurol"},{"issue":"03","key":"ref58","first-page":"283","article-title":"Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A. Journal of the Peripheral Nervous System. John Wiley & Sons","volume":"24","author":"J Spiesshoefer","year":"2019","journal-title":"Ltd"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.gde.2017.01.011","article-title":"Molecular pathogenesis of peripheral neuropathies: insights from Drosophila models","volume":"44","author":"J Bussmann","year":"2017","journal-title":"Curr Opin Genet Dev"},{"issue":"09","key":"ref60","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.3390\/brainsci11091237","article-title":"Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies","volume":"11","author":"L Bosco","year":"2021","journal-title":"Brain Sci"},{"issue":"04","key":"ref61","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.bbadis.2014.07.031","article-title":"Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies","volume":"1852","author":"N U Jerath","year":"2015","journal-title":"Biochim Biophys Acta"},{"issue":"01","key":"ref62","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1186\/s13023-014-0201-x","article-title":"Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy","volume":"9","author":"I Chumakov","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"01","key":"ref63","doi-asserted-by":"crossref","first-page":"e0209752","DOI":"10.1371\/journal.pone.0209752","article-title":"Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)","volume":"14","author":"T Prukop","year":"2019","journal-title":"PLoS One"},{"key":"ref64","first-page":"CC","article-title":"A phase II randomized, placebo-controlled multicenter clinical trial of three doses of PXT3003 in 80 adult patients with CMT1A treated for 1 year","volume":"18","author":"S Attarian","year":"2013","journal-title":"J Peripher Nerv Syst"},{"issue":"01","key":"ref65","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1186\/s13023-021-02040-8","article-title":"A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A","volume":"16","author":"S Attarian","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"01","key":"ref66","doi-asserted-by":"crossref","first-page":"3025","DOI":"10.1038\/s41467-018-05420-0","article-title":"Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy","volume":"9","author":"R Fledrich","year":"2018","journal-title":"Nat Commun"},{"key":"ref67","doi-asserted-by":"crossref","first-page":"903","DOI":"10.3389\/fneur.2020.00903","article-title":"Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A","volume":"11","author":"D Visigalli","year":"2020","journal-title":"Front Neurol"},{"issue":"01","key":"ref68","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1172\/JCI96499","article-title":"PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models","volume":"128","author":"H T Zhao","year":"2018","journal-title":"J Clin Invest"},{"issue":"01","key":"ref69","first-page":"130","article-title":"Targeted PMP22 TATA-box editing by CRISPR\/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice","volume":"48","author":"J S Lee","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"ref70","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.freeradbiomed.2020.09.019","article-title":"Curcumin-cyclodextrin\/cellulose nanocrystals improve the phenotype of Charcot-Marie-Tooth-1A transgenic rats through the reduction of oxidative stress","volume":"161","author":"M Caillaud","year":"2020","journal-title":"Free Radic Biol Med"},{"issue":"01","key":"ref71","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":"B Gautier","year":"2021","journal-title":"Nat Commun"},{"issue":"07","key":"ref72","doi-asserted-by":"crossref","first-page":"4159","DOI":"10.1007\/s12035-022-02838-y","article-title":"Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice","volume":"59","author":"Y Bai","year":"2022","journal-title":"Mol Neurobiol"},{"issue":"01","key":"ref73","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/s13023-015-0270-5","article-title":"CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors","volume":"10","author":"S Mones","year":"2015","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"ref74","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":"M E Shy","year":"2007","journal-title":"Neurology"},{"issue":"08","key":"ref75","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1093\/hmg\/ddy056","article-title":"Intrathecal gene therapy in mouse models expressing CMT1X mutations","volume":"27","author":"A Kagiava","year":"2018","journal-title":"Hum Mol Genet"},{"issue":"21","key":"ref76","doi-asserted-by":"crossref","first-page":"3528","DOI":"10.1093\/hmg\/ddz199","article-title":"Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X","volume":"28","author":"A Kagiava","year":"2019","journal-title":"Hum Mol Genet"},{"issue":"02","key":"ref77","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1111\/brv.12378","article-title":"Structure, function, and regulation of mitofusin-2 in health and disease","volume":"93","author":"G Chandhok","year":"2018","journal-title":"Biol Rev Camb Philos Soc"},{"issue":"07","key":"ref78","doi-asserted-by":"crossref","first-page":"791","DOI":"10.2169\/internalmedicine.51.6676","article-title":"Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation","volume":"51","author":"R Takahashi","year":"2012","journal-title":"Intern Med"},{"issue":"04","key":"ref79","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1083\/jcb.201411100","article-title":"Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels","volume":"208","author":"A Mourier","year":"2015","journal-title":"J Cell Biol"},{"key":"ref80","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1126\/science.aao1785","article-title":"MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A","volume":"360","author":"A G Rocha","year":"2018","journal-title":"Science"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1770348.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T23:39:21Z","timestamp":1699486761000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1770348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,23]]},"references-count":79,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,11,8]]},"published-print":{"date-parts":[[2023,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1770348","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0004-282X","1678-4227"],"issn-type":[{"type":"print","value":"0004-282X"},{"type":"electronic","value":"1678-4227"}],"subject":[],"published":{"date-parts":[[2023,8,23]]}}}