{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:15:49Z","timestamp":1787008549268,"version":"build-2736575974"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","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","award":["K08 NS102509"],"award-info":[{"award-number":["K08 NS102509"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R35 NS122306"],"award-info":[{"award-number":["R35 NS122306"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["629305"],"award-info":[{"award-number":["629305"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008478","name":"Inherited Neuropathies Consortium","doi-asserted-by":"publisher","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}],"id":[{"id":"10.13039\/501100008478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"NIH National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","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"}]},{"name":"Office of Rare Diseases Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular atrophy. These conditions are collectively referred to as TRPV4-related neuromuscular disease and share features of motor greater than sensory dysfunction and frequent vocal fold weakness. Pathogenic variants lead to gain of ion channel function that can be rescued by TRPV4 antagonists in cellular and animal models. As small molecule TRPV4 antagonists have proven safe in trials for other disease indications, channel inhibition is a promising therapeutic strategy for TRPV4 patients. However, the current knowledge of the clinical features and natural history of TRPV4-related neuromuscular disease is insufficient to enable rational clinical trial design. To address these issues, we developed a TRPV4 patient database and administered a TRPV4-specific patient questionnaire.<\/jats:p>\n                  <jats:p>Here, we report demographic and clinical information, including CMT Examination Scores (CMTES), from 68 patients with known pathogenic TRPV4 variants, 40 of whom also completed the TRPV4 patient questionnaire. TRPV4 patients showed a bimodal age of onset, with the largest peak occurring in the first 2\u2005years of life. Compared to CMT type 1A (CMT1A) patients, TRPV4 patients showed distinct symptoms and signs, manifesting more ambulatory difficulties and more frequent involvement of proximal arm and leg muscles. Although patients reported fewer sensory symptoms, sensory dysfunction was often detected clinically. Many patients were affected by vocal fold weakness (55%) and shortness of breath (55%), and 11% required ventilatory support. Skeletal abnormalities were common, including scoliosis (64%), arthrogryposis (33%) and foot deformities. Strikingly, patients with infantile onset of disease showed less sensory involvement and less progression of symptoms.<\/jats:p>\n                  <jats:p>These results highlight distinctive clinical features in TRPV4 patients, including motor-predominant disease, proximal arm and leg weakness, severe ambulatory difficulties, vocal fold weakness, respiratory dysfunction and skeletal involvement. In addition, patients with infantile onset of disease appeared to have a distinct phenotype with less apparent disease progression based on CMTES. These collective observations indicate that clinical trial design for TRPV4-related neuromuscular disease should include outcome measures that reliably capture non-length dependent motor dysfunction, vocal fold weakness and respiratory disease.<\/jats:p>","DOI":"10.1093\/brain\/awae201","type":"journal-article","created":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T01:47:47Z","timestamp":1718934467000},"page":"238-251","source":"Crossref","is-referenced-by-count":7,"title":["TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations"],"prefix":"10.1093","volume":"148","author":[{"given":"Gage P","family":"Kosmanopoulos","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Michigan Medical School , Ann Arbor, MI 48109 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack K","family":"Donohue","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Hoke","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margo A","family":"Peyton","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mass General Brigham , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linh","family":"Vo","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Michigan Medical School , Ann Arbor, MI 48109 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O","family":"Crawford","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Sadjadi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N","family":"Herrmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester , Rochester, NY 14627 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina W","family":"Yum","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Neurology, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0686-905X","authenticated-orcid":false,"given":"Mary M","family":"Reilly","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S","family":"Scherer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9351-7054","authenticated-orcid":false,"given":"Richard S","family":"Finkel","sequence":"additional","affiliation":[{"name":"Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital , Memphis, TN 38105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Neurology, Cedars-Sinai Medical Center , Los Angeles, CA 90048 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6854-765X","authenticated-orcid":false,"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20133 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3850-076X","authenticated-orcid":false,"given":"Chiara","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20133 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Walk","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Minnesota , Minneapolis, MN 55455 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa , Iowa City, IA 52242 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte J","family":"Sumner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]},{"name":"The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Inherited Neuropathies Consortium - Rare Disease Clinical Research Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Cavalca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Crivellari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bipasha","family":"Mukherjee-Clavin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Pagliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Rossor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Saveri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Schirinzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariola","family":"Skorupinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Sowden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6581-9728","authenticated-orcid":false,"given":"Brett A","family":"McCray","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Michigan Medical School , Ann Arbor, MI 48109 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"2025050710272201700_awae201-B1","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":"2025050710272201700_awae201-B2","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1159\/000443706","article-title":"Epidemiologic study of Charcot-Marie-Tooth disease: A systematic review","volume":"46","author":"Barreto","year":"2016","journal-title":"Neuroepidemiology"},{"key":"2025050710272201700_awae201-B3","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/B978-0-444-52902-2.00047-3","article-title":"Dominant Charcot-Marie-Tooth syndrome and cognate disorders","volume":"115","author":"Pareyson","year":"2013","journal-title":"Handb Clin Neurol"},{"key":"2025050710272201700_awae201-B4","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":"Laura","year":"2019","journal-title":"Curr Opin Neurol"},{"issue":"4","key":"2025050710272201700_awae201-B5","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1007\/s13311-021-01099-2","article-title":"Axonal Charcot-Marie-Tooth disease: From common pathogenic mechanisms to emerging treatment opportunities","volume":"18","author":"McCray","year":"2021","journal-title":"Neurotherapeutics"},{"key":"2025050710272201700_awae201-B6","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng.512","article-title":"Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C","volume":"42","author":"Landoure","year":"2010","journal-title":"Nat Genet"},{"key":"2025050710272201700_awae201-B7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng.509","article-title":"Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4","volume":"42","author":"Deng","year":"2010","journal-title":"Nat Genet"},{"key":"2025050710272201700_awae201-B8","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng.508","article-title":"Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, capuloperoneal SMA and HMSN2C","volume":"42","author":"Auer-Grumbach","year":"2010","journal-title":"Nat Genet"},{"key":"2025050710272201700_awae201-B9","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1097\/WCO.0b013e32833e1765","article-title":"The genetics of spinal muscular atrophies","volume":"23","author":"Wee","year":"2010","journal-title":"Curr Opin Neurol"},{"key":"2025050710272201700_awae201-B10","volume-title":"Genereviews((R))","author":"McCray","year":"1993-2024"},{"key":"2025050710272201700_awae201-B11","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ajhg.2009.01.021","article-title":"Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia","volume":"84","author":"Krakow","year":"2009","journal-title":"Am J Hum Genet"},{"key":"2025050710272201700_awae201-B12","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng.166","article-title":"Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia","volume":"40","author":"Rock","year":"2008","journal-title":"Nat Genet"},{"key":"2025050710272201700_awae201-B13","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/ng.945","article-title":"Mutations in TRPV4 cause an inherited arthropathy of hands and feet","volume":"43","author":"Lamande","year":"2011","journal-title":"Nat Genet"},{"key":"2025050710272201700_awae201-B14","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/embor.2012.219","article-title":"The puzzle of TRPV4 channelopathies","volume":"14","author":"Nilius","year":"2013","journal-title":"EMBO Rep"},{"key":"2025050710272201700_awae201-B15","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1212\/NXG.0000000000000029","article-title":"Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy","volume":"1","author":"Sullivan","year":"2015","journal-title":"Neurol Genet"},{"key":"2025050710272201700_awae201-B16","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1212\/WNL.0b013e31825f04b2","article-title":"Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family","volume":"79","author":"Landoure","year":"2012","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B17","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1212\/WNL.0b013e31820f2de3","article-title":"TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies","volume":"76","author":"Klein","year":"2011","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B18","doi-asserted-by":"crossref","first-page":"2679","DOI":"10.1038\/s41467-020-16411-5","article-title":"TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca(2)","volume":"11","author":"Woolums","year":"2020","journal-title":"Nat Commun"},{"key":"2025050710272201700_awae201-B19","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/acn3.51523","article-title":"TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function","volume":"9","author":"Taga","year":"2022","journal-title":"Ann Clin Transl Neurol"},{"key":"2025050710272201700_awae201-B20","doi-asserted-by":"crossref","first-page":"eadk1358","DOI":"10.1126\/scitranslmed.adk1358","article-title":"Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice","volume":"16","author":"Sullivan","year":"2024","journal-title":"Sci Transl Med"},{"key":"2025050710272201700_awae201-B21","doi-asserted-by":"crossref","first-page":"e2100288","DOI":"10.1002\/bies.202100288","article-title":"TRPV4: A trigger of pathological RhoA activation in neurological disease","volume":"44","author":"Bagnell","year":"2022","journal-title":"Bioessays"},{"key":"2025050710272201700_awae201-B22","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/s41572-022-00380-8","article-title":"Spinal muscular atrophy","volume":"8","author":"Mercuri","year":"2022","journal-title":"Nat Rev Dis Primers"},{"key":"2025050710272201700_awae201-B23","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1212\/WNL.0000000000000450","article-title":"Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy","volume":"82","author":"Echaniz-Laguna","year":"2014","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B24","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.nmd.2015.03.007","article-title":"Phenotypic variability of TRPV4 related neuropathies","volume":"25","author":"Evangelista","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"2025050710272201700_awae201-B25","doi-asserted-by":"crossref","first-page":"1798","DOI":"10.1093\/brain\/awq109","article-title":"Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies","volume":"133","author":"Zimon","year":"2010","journal-title":"Brain"},{"key":"2025050710272201700_awae201-B26","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s12017-019-08564-4","article-title":"Incidence and clinical features of TRPV4-linked axonal neuropathies in a USA cohort of Charcot-Marie-Tooth disease type 2","volume":"22","author":"Deng","year":"2020","journal-title":"Neuromolecular Med"},{"key":"2025050710272201700_awae201-B27","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1136\/jnnp-2012-303055","article-title":"Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls","volume":"83","author":"Fawcett","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025050710272201700_awae201-B28","doi-asserted-by":"crossref","first-page":"3144","DOI":"10.1093\/brain\/awae064","article-title":"Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease","volume":"147","author":"Record","year":"2024","journal-title":"Brain"},{"key":"2025050710272201700_awae201-B29","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1136\/jmedgenet-2020-107427","article-title":"De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy","volume":"59","author":"Ragamin","year":"2022","journal-title":"J Med Genet"},{"key":"2025050710272201700_awae201-B30","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":"2025050710272201700_awae201-B31","doi-asserted-by":"crossref","first-page":"e884","DOI":"10.1212\/WNL.0000000000009035","article-title":"A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores","volume":"94","author":"Fridman","year":"2020","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B32","doi-asserted-by":"crossref","first-page":"3589","DOI":"10.1093\/brain\/awaa323","article-title":"Natural history of Charcot-Marie-Tooth disease type 2A: A large international multicentre study","volume":"143","author":"Pipis","year":"2020","journal-title":"Brain"},{"key":"2025050710272201700_awae201-B33","doi-asserted-by":"crossref","first-page":"4336","DOI":"10.1093\/brain\/awad187","article-title":"Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants","volume":"146","author":"Record","year":"2023","journal-title":"Brain"},{"key":"2025050710272201700_awae201-B34","doi-asserted-by":"crossref","first-page":"3826","DOI":"10.1093\/brain\/awad095","article-title":"Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history","volume":"146","author":"Rehbein","year":"2023","journal-title":"Brain"},{"key":"2025050710272201700_awae201-B35","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":"2025050710272201700_awae201-B36","doi-asserted-by":"crossref","first-page":"e98","DOI":"10.1212\/CPJ.0000000000200070","article-title":"Virtual Charcot-Marie-Tooth examination score: A validated virtual evaluation for people with Charcot-Marie-Tooth disease","volume":"12","author":"Prada","year":"2022","journal-title":"Neurol Clin Pract"},{"key":"2025050710272201700_awae201-B37","doi-asserted-by":"crossref","first-page":"e312","DOI":"10.1212\/NXG.0000000000000312","article-title":"Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis","volume":"5","author":"Velilla","year":"2019","journal-title":"Neurol Genet"},{"key":"2025050710272201700_awae201-B38","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/1750-1172-6-37","article-title":"TRPV4 related skeletal dysplasias: A phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families","volume":"6","author":"Andreucci","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"2025050710272201700_awae201-B39","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ajmg.c.31335","article-title":"TRPV4-associated skeletal dysplasias","volume":"160C","author":"Nishimura","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025050710272201700_awae201-B40","doi-asserted-by":"crossref","first-page":"3453","DOI":"10.1172\/JCI31766","article-title":"Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding","volume":"117","author":"Gevaert","year":"2007","journal-title":"J Clin Invest"},{"key":"2025050710272201700_awae201-B41","doi-asserted-by":"crossref","first-page":"117153","DOI":"10.1016\/j.jns.2020.117153","article-title":"Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin","volume":"419","author":"Liu","year":"2020","journal-title":"J Neurol Sci"},{"key":"2025050710272201700_awae201-B42","doi-asserted-by":"crossref","first-page":"77","DOI":"10.3390\/ph9040077","article-title":"TRP channels in skin biology and pathophysiology","volume":"9","author":"Caterina","year":"2016","journal-title":"Pharmaceuticals (Basel)"},{"key":"2025050710272201700_awae201-B43","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1038\/s41467-021-21699-y","article-title":"Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension","volume":"12","author":"McCray","year":"2021","journal-title":"Nat Commun"},{"key":"2025050710272201700_awae201-B44","doi-asserted-by":"crossref","first-page":"3732","DOI":"10.1038\/s41467-023-39345-0","article-title":"TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease","volume":"14","author":"Kwon","year":"2023","journal-title":"Nat Commun"},{"key":"2025050710272201700_awae201-B45","doi-asserted-by":"crossref","first-page":"3733","DOI":"10.1038\/s41467-023-39346-z","article-title":"Structure of human TRPV4 in complex with GTPase RhoA","volume":"14","author":"Nadezhdin","year":"2023","journal-title":"Nat Commun"},{"key":"2025050710272201700_awae201-B46","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/mus.26346","article-title":"The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene","volume":"59","author":"Jedrzejowska","year":"2019","journal-title":"Muscle Nerve"},{"key":"2025050710272201700_awae201-B47","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1055\/s-0035-1554100","article-title":"Long-Term observations in an affected family with neurogenic scapuloperoneal syndrome caused by mutation R269C in the TRPV4 gene","volume":"46","author":"Vill","year":"2015","journal-title":"Neuropediatrics"},{"key":"2025050710272201700_awae201-B48","doi-asserted-by":"crossref","first-page":"e1381","DOI":"10.1212\/WNL.0000000000006323","article-title":"The Charcot-Marie-Tooth functional outcome measure (CMT-FOM)","volume":"91","author":"Eichinger","year":"2018","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B49","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1111\/jns.12406","article-title":"Reliability of the Charcot-Marie-Tooth functional outcome measure","volume":"25","author":"Bray","year":"2020","journal-title":"J Peripher Nerv Syst"},{"key":"2025050710272201700_awae201-B50","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1136\/jnnp.2005.081547","article-title":"A modified peripheral neuropathy scale: The Overall Neuropathy Limitations Scale","volume":"77","author":"Graham","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025050710272201700_awae201-B51","doi-asserted-by":"crossref","first-page":"e207963","DOI":"10.1212\/WNL.0000000000207963","article-title":"Multicenter validation of the Charcot-Marie-Tooth functional outcome measure","volume":"102","author":"Mandarakas","year":"2024","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B52","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/ana.25009","article-title":"Natural history of Charcot-Marie-Tooth disease during childhood","volume":"82","author":"Cornett","year":"2017","journal-title":"Ann Neurol"},{"key":"2025050710272201700_awae201-B53","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/mus.26419","article-title":"Revised upper limb module for spinal muscular atrophy: 12 month changes","volume":"59","author":"Pera","year":"2019","journal-title":"Muscle Nerve"},{"key":"2025050710272201700_awae201-B54","doi-asserted-by":"crossref","first-page":"e1125","DOI":"10.1212\/WNL.0000000000006214","article-title":"Validation of MRC centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A","volume":"91","author":"Morrow","year":"2018","journal-title":"Neurology"},{"key":"2025050710272201700_awae201-B55","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/acn3.51979","article-title":"Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A","volume":"11","author":"Doherty","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"2025050710272201700_awae201-B56","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1177\/0194599821989608","article-title":"Application of a computer vision tool for automated glottic tracking to vocal fold paralysis patients","volume":"165","author":"Wang","year":"2021","journal-title":"Otolaryngol Head Neck Surg"},{"key":"2025050710272201700_awae201-B57","doi-asserted-by":"crossref","first-page":"E219","DOI":"10.1002\/lary.28669","article-title":"An open-source computer vision tool for automated vocal fold tracking from videoendoscopy","volume":"131","author":"Adamian","year":"2021","journal-title":"Laryngoscope"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awae201\/60791774\/awae201.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/1\/238\/60791774\/awae201.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/1\/238\/60791774\/awae201.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T10:27:34Z","timestamp":1746613654000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/148\/1\/238\/7698451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,25]]},"references-count":57,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,6,25]]},"published-print":{"date-parts":[[2025,1,7]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awae201","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2024,6,25]]}}}