{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:17:18Z","timestamp":1762377438788,"version":"3.37.3"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T00:00:00Z","timestamp":1691107200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T00:00:00Z","timestamp":1691107200000},"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":[[2023,12]]},"DOI":"10.1007\/s10072-023-06988-2","type":"journal-article","created":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T09:01:35Z","timestamp":1691139695000},"page":"4537-4539","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A case of early-onset Parkinson\u2019s disease in a patient with KBG syndrome"],"prefix":"10.1007","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9546-8567","authenticated-orcid":false,"given":"Luca","family":"Magistrelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Contaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fjorilda","family":"Caushi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Spano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Cantello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"D\u2019Alfonso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Corrado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,8,4]]},"reference":[{"issue":"2","key":"6988_CR1","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1111\/cge.13977","volume":"100","author":"I Parenti","year":"2021","unstructured":"Parenti I, Mallozzi MB, H\u00fcning I, Gervasini C, Kuechler A, Agolini E et al (2021) ANKRD11 variants: KBG syndrome and beyond. Clin Genet 100(2):187\u2013200","journal-title":"Clin Genet"},{"issue":"5","key":"6988_CR2","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, Bick D, Das S, Gastier-Foster J, ACMG Laboratory Quality Assurance Committee 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(5):405\u2013424","journal-title":"Genet Med"},{"key":"6988_CR3","doi-asserted-by":"crossref","unstructured":"Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F et al (2022) Natural history of KBG syndrome in a large European cohort. Hum Mol Genet 16;31(24):4131\u20134142","DOI":"10.1093\/hmg\/ddac167"},{"issue":"1","key":"6988_CR4","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.devcel.2014.11.031","volume":"32","author":"D Gallagher","year":"2015","unstructured":"Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP et al (2015) Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell 32(1):31\u201342","journal-title":"Dev Cell"},{"key":"6988_CR5","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.nbd.2017.12.008","volume":"111","author":"M Ka","year":"2018","unstructured":"Ka M, Kim WY (2018) ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF\/TrkB signaling pathway. Neurobiol Dis 111:138\u2013152","journal-title":"Neurobiol Dis"},{"issue":"6315","key":"6988_CR6","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/350230a0","volume":"350","author":"C Hyman","year":"1991","unstructured":"Hyman C, Hofer M, Barde YA, Juhasz M, Yancopoulos GD, Squinto SP et al (1991) BDNF is a neurotrophic factor for dopaminergic neurons of the substantia nigra. Nature 350(6315):230\u2013232","journal-title":"Nature"},{"key":"6988_CR7","doi-asserted-by":"crossref","unstructured":"Von Scheibler ENMM, van Eeghen AM, de Koning TJ, Kuijf ML, Zinkstok JR, M\u00fcller AR et al (2022) Parkinsonism in genetic neurodevelopmental disorders: a systematic review. Mov Disord Clin Pract 31;10(1):17\u201331","DOI":"10.1002\/mdc3.13577"},{"issue":"11","key":"6988_CR8","doi-asserted-by":"publisher","first-page":"2847","DOI":"10.1002\/ajmg.a.37878","volume":"170","author":"A Goldenberg","year":"2016","unstructured":"Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P et al (2016) Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Am J Med Genet A 170(11):2847\u20132859","journal-title":"Am J Med Genet A"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-06988-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-023-06988-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-06988-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T02:06:57Z","timestamp":1699841217000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-023-06988-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,4]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["6988"],"URL":"https:\/\/doi.org\/10.1007\/s10072-023-06988-2","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2023,8,4]]},"assertion":[{"value":"2 June 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 August 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors confirm that the approval of an institutional review board was not required for this work. Patient\u2019s informed consent was obtained. We confirm that we have read the Journal\u2019s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and informed consent"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}