{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T22:06:20Z","timestamp":1768860380674,"version":"3.49.0"},"reference-count":8,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T00:00:00Z","timestamp":1753315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.ejmg.2025.105032","type":"journal-article","created":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T22:40:02Z","timestamp":1753569602000},"page":"105032","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Further delineation of LRSAM1-related Charcot-Marie-Tooth type 2P with parkinsonism"],"prefix":"10.1016","volume":"77","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6129-3204","authenticated-orcid":false,"given":"Pauline","family":"Ducatel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine","family":"Verger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Selton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salome","family":"Puisieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anais","family":"Grosset","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Hopes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maud","family":"Michaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2025.105032_bib1","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1002\/acn3.281","article-title":"A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease","volume":"3","author":"Aerts","year":"2016","journal-title":"Ann Clin Transl Neurol"},{"issue":"3","key":"10.1016\/j.ejmg.2025.105032_bib2","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1007\/s00415-023-12076-4","article-title":"Clinical and genetic features of patients suffering from CMT4J","volume":"271","author":"Beloribi-Djefaflia","year":"2024","journal-title":"J. Neurol."},{"issue":"2","key":"10.1016\/j.ejmg.2025.105032_bib3","doi-asserted-by":"crossref","first-page":"318","DOI":"10.3390\/genes13020318","article-title":"A national French consensus on gene list for the diagnosis of Charcot\u2013Marie\u2013Tooth disease and related disorders using next-generation sequencing","volume":"13","author":"Benquey","year":"2022","journal-title":"Genes"},{"issue":"7_Suppl. ment_1","key":"10.1016\/j.ejmg.2025.105032_bib4","doi-asserted-by":"crossref","first-page":"5927","DOI":"10.1212\/WNL.0000000000212680","article-title":"Charcot-Marie-Tooth disease and parkinsonism in a 50 year old patient with FIG4 mutation (P12-11.024)","volume":"104","author":"Caillier","year":"2025","journal-title":"Neurology"},{"issue":"11","key":"10.1016\/j.ejmg.2025.105032_bib5","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1007\/s00018-019-03055-y","article-title":"LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases","volume":"76","author":"Mishra","year":"2019","journal-title":"Cell Mol Life Sci CMLS"},{"issue":"1","key":"10.1016\/j.ejmg.2025.105032_bib6","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13023-020-01654-8","article-title":"LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond","volume":"16","author":"Palaima","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"9","key":"10.1016\/j.ejmg.2025.105032_bib7","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1038\/s41431-019-0403-8","article-title":"LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2","volume":"27","author":"Peretti","year":"2019","journal-title":"Eur J Hum Genet EJHG"},{"issue":"2","key":"10.1016\/j.ejmg.2025.105032_bib8","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1093\/hmg\/ddr471","article-title":"A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy","volume":"21","author":"Weterman","year":"2012","journal-title":"Hum. Mol. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000394?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000394?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T08:36:51Z","timestamp":1768811811000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721225000394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":8,"alternative-id":["S1769721225000394"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105032","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Further delineation of LRSAM1-related Charcot-Marie-Tooth type 2P with parkinsonism","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105032","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105032"}}