{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:13:19Z","timestamp":1740136399659,"version":"3.37.3"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T00:00:00Z","timestamp":1719532800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T00:00:00Z","timestamp":1719532800000},"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":["Neurol Sci"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1007\/s10072-024-07674-7","type":"journal-article","created":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T19:02:30Z","timestamp":1719601350000},"page":"5047-5051","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two new cases with the UBQLN2 gene mutation in Han Chinese"],"prefix":"10.1007","volume":"45","author":[{"given":"Shuang","family":"He","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Xin","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Qi","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Wen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3207-718X","authenticated-orcid":false,"given":"Shuai","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"issue":"7363","key":"7674_CR1","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/nature10353","volume":"477","author":"HX Deng","year":"2011","unstructured":"Deng HX, Chen W, Hong ST et al (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS\/dementia. Nature 477(7363):211\u2013215","journal-title":"Nature"},{"issue":"1","key":"7674_CR2","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1186\/s13023-022-02531-2","volume":"17","author":"X Yang","year":"2022","unstructured":"Yang X, Sun X, Liu Q et al (2022) Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia. Orphanet J Rare Dis 17(1):404","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"7674_CR3","doi-asserted-by":"publisher","first-page":"893","DOI":"10.3233\/JAD-220594","volume":"89","author":"L Dong","year":"2022","unstructured":"Dong L, Wang J, Liu C et al (2022) Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. J Alzheimers Dis 89(3):893\u2013901","journal-title":"J Alzheimers Dis"},{"issue":"2","key":"7674_CR4","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1136\/jnnp-2012-303433","volume":"84","author":"C Gellera","year":"2013","unstructured":"Gellera C, Tiloca C, Del Bo R et al (2013) Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. J Neurol Neurosurg Psychiatry 84(2):183\u2013187","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"7674_CR5","doi-asserted-by":"crossref","unstructured":"Jaime V, Marjorie PD, Shadi RY, Lori C, Stacy AR (2013) Clinical variability and female penetrance in X-linked familial FTD\/ALS caused by a P506S mutation in UBQLN2.\u00a0Amyotroph Lateral Scler Frontotemporal Degeneration\u00a014(7\u20138):615\u2013619","DOI":"10.3109\/21678421.2013.824001"},{"issue":"229","key":"7674_CR6","first-page":"e5","volume":"73","author":"SA Gkazi","year":"2019","unstructured":"Gkazi SA, Troakes C, Topp S et al (2019) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiol Aging 73(229):e5-229.e9","journal-title":"Neurobiol Aging"},{"issue":"10","key":"7674_CR7","doi-asserted-by":"publisher","first-page":"2527.e3","DOI":"10.1016\/j.neurobiolaging.2012.05.008","volume":"33","author":"KL Williams","year":"2012","unstructured":"Williams KL, Warraich ST, Yang S et al (2012) UBQLN2\/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol Aging 33(10):2527.e3\u201310","journal-title":"Neurobiol Aging"},{"key":"7674_CR8","doi-asserted-by":"crossref","unstructured":"Nementzik LR, Thumbadoo KM, Murray HC et al (2023) Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia. Brain Pathol 34(3):e13230","DOI":"10.1111\/bpa.13230"},{"issue":"239","key":"7674_CR9","first-page":"e11","volume":"58","author":"E Teyssou","year":"2017","unstructured":"Teyssou E, Chartier L, Amador MD et al (2017) Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. Neurobiol Aging 58(239):e11-239.e20","journal-title":"Neurobiol Aging"},{"issue":"12","key":"7674_CR10","doi-asserted-by":"publisher","first-page":"2949.e13","DOI":"10.1016\/j.neurobiolaging.2012.07.002","volume":"33","author":"M Synofzik","year":"2012","unstructured":"Synofzik M, Maetzler W, Grehl T et al (2012) Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 33(12):2949.e13\u20137","journal-title":"Neurobiol Aging"},{"issue":"5\u20136","key":"7674_CR11","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1080\/21678421.2020.1752251","volume":"21","author":"A Raggi","year":"2020","unstructured":"Raggi A, Bartoletti-Stella A, Parchi P, Capellari S (2020) First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms. Amyotroph Lateral Scler Frontotemporal Degener 21(5\u20136):467\u2013469","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"issue":"5","key":"7674_CR12","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1002\/ana.24164","volume":"75","author":"AC Fahed","year":"2014","unstructured":"Fahed AC, McDonough B, Gouvion CM et al (2014) UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration. Ann Neurol 75(5):793\u2013798","journal-title":"Ann Neurol"},{"issue":"4","key":"7674_CR13","doi-asserted-by":"publisher","first-page":"1764.e9","DOI":"10.1016\/j.neurobiolaging.2014.12.032","volume":"36","author":"A \u00d6zo\u011fuz","year":"2015","unstructured":"\u00d6zo\u011fuz A, Uyan \u00d6, Birdal G et al (2015) The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging 36(4):1764.e9-1764.e18","journal-title":"Neurobiol Aging"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07674-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-024-07674-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07674-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T13:27:19Z","timestamp":1727184439000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-024-07674-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,28]]},"references-count":13,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["7674"],"URL":"https:\/\/doi.org\/10.1007\/s10072-024-07674-7","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2024,6,28]]},"assertion":[{"value":"13 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 June 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the local ethics committee. Written informed consent for clinical and imaging data to be used for this report was obtained from the patient.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}