{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:22:00Z","timestamp":1792642920814,"version":"4.5.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T00:00:00Z","timestamp":1721433600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T00:00:00Z","timestamp":1721433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1007\/s00415-024-12574-z","type":"journal-article","created":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T01:01:16Z","timestamp":1721437276000},"page":"6038-6044","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9543-6311","authenticated-orcid":false,"given":"C.","family":"Marelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Ramond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Vignal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Blanchet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Frost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q.","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bocquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Nadjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Leboucq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Taieb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Benkirane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Hersent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Koenig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Meunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,20]]},"reference":[{"key":"12574_CR1","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1038\/s10038-018-0463-6","volume":"63","author":"A Das Bhowmik","year":"2018","unstructured":"Das Bhowmik A, Patil SJ, Deshpande DV et al (2018) Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. J Hum Genet 63:927\u2013933. https:\/\/doi.org\/10.1038\/s10038-018-0463-6","journal-title":"J Hum Genet"},{"key":"12574_CR2","doi-asserted-by":"publisher","first-page":"3489","DOI":"10.1073\/pnas.1222732110","volume":"110","author":"K Bilguvar","year":"2013","unstructured":"Bilguvar K, Tyagi NK, Ozkara C et al (2013) Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110:3489\u20133494. https:\/\/doi.org\/10.1073\/pnas.1222732110","journal-title":"Proc Natl Acad Sci U S A"},{"key":"12574_CR3","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1093\/hmg\/ddx072","volume":"26","author":"SL Rydning","year":"2017","unstructured":"Rydning SL, Backe PH, Sousa MML et al (2017) Novel UCHL1 mutations reveal new insights into ubiquitin processing. Hum Mol Genet 26:1217\u20131218. https:\/\/doi.org\/10.1093\/hmg\/ddx072","journal-title":"Hum Mol Genet"},{"key":"12574_CR4","doi-asserted-by":"publisher","first-page":"3643","DOI":"10.1007\/s00415-020-10059-3","volume":"267","author":"G McMacken","year":"2020","unstructured":"McMacken G, Lochm\u00fcller H, Bansagi B et al (2020) Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. J Neurol 267:3643\u20133649. https:\/\/doi.org\/10.1007\/s00415-020-10059-3","journal-title":"J Neurol"},{"key":"12574_CR5","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100961","author":"J Park","year":"2023","unstructured":"Park J, Tucci A, Cipriani V et al (2023) Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet Med Off J Am Coll Med Genet. https:\/\/doi.org\/10.1016\/j.gim.2023.100961","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"12574_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"12574_CR7","doi-asserted-by":"publisher","first-page":"6735","DOI":"10.1021\/bi960099f","volume":"35","author":"CN Larsen","year":"1996","unstructured":"Larsen CN, Price JS, Wilkinson KD (1996) Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues. Biochemistry 35:6735\u20136744. https:\/\/doi.org\/10.1021\/bi960099f","journal-title":"Biochemistry"},{"key":"12574_CR8","doi-asserted-by":"publisher","first-page":"10567","DOI":"10.1074\/jbc.M611153200","volume":"282","author":"RK Meray","year":"2007","unstructured":"Meray RK, Lansbury PT (2007) Reversible monoubiquitination regulates the Parkinson disease-associated ubiquitin hydrolase UCH-L1. J Biol Chem 282:10567\u201310575. https:\/\/doi.org\/10.1074\/jbc.M611153200","journal-title":"J Biol Chem"},{"key":"12574_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2023.101856","volume":"86","author":"Z Mi","year":"2023","unstructured":"Mi Z, Graham SH (2023) Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury. Ageing Res Rev 86:101856. https:\/\/doi.org\/10.1016\/j.arr.2023.101856","journal-title":"Ageing Res Rev"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12574-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-024-12574-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12574-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T12:21:59Z","timestamp":1725538919000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-024-12574-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,20]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["12574"],"URL":"https:\/\/doi.org\/10.1007\/s00415-024-12574-z","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,20]]},"assertion":[{"value":"8 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 July 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"CM received honorary travel to attend scientific meetings (Nutricia and Vitaflo) and honorary for consultant activity (Biogen, Reata Pharmaceuticals, Medesis Pharma); FR, CV, CB, SF, QH, YN, NL, GT, MB, CH, MK, and IM have nothing to disclose. On behalf of all authors, the corresponding author states that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}