{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T11:53:55Z","timestamp":1773662035157,"version":"3.50.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T00:00:00Z","timestamp":1547164800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003715","name":"Korea Research Institute of Bioscience and Biotechnology","doi-asserted-by":"publisher","award":["NRF-2014M3C9A2064619"],"award-info":[{"award-number":["NRF-2014M3C9A2064619"]}],"id":[{"id":"10.13039\/501100003715","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["NRF-2017R1A2B4005276"],"award-info":[{"award-number":["NRF-2017R1A2B4005276"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1007\/s12311-019-1005-2","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T23:06:00Z","timestamp":1547161560000},"page":"659-664","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review"],"prefix":"10.1007","volume":"18","author":[{"given":"Jong Hyeon","family":"Ahn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ah Reum","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayoung K. D.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nam-Soon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woong-Yang","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minkyeong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyoung","family":"Youn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Whan","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji Sun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,1,11]]},"reference":[{"issue":"24","key":"1005_CR1","doi-asserted-by":"publisher","first-page":"3156","DOI":"10.1101\/gad.10.24.3156","volume":"10","author":"E Bonten","year":"1996","unstructured":"Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev. 1996;10(24):3156\u201369.","journal-title":"Genes Dev"},{"issue":"3","key":"1005_CR2","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1038\/ng0397-316","volume":"15","author":"AV Pshezhetsky","year":"1997","unstructured":"Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, et al. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet. 1997;15(3):316\u201320. \n                    https:\/\/doi.org\/10.1038\/ng0397-316\n                    \n                  .","journal-title":"Nat Genet"},{"issue":"5","key":"1005_CR3","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, et al. 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. 2015;17(5):405\u201324. \n                    https:\/\/doi.org\/10.1038\/gim.2015.30\n                    \n                  .","journal-title":"Genet Med"},{"issue":"4","key":"1005_CR4","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s100380070034","volume":"45","author":"Y Naganawa","year":"2000","unstructured":"Naganawa Y, Itoh K, Shimmoto M, Takiguchi K, Doi H, Nishizawa Y, et al. Molecular and structural studies of Japanese patients with sialidosis type 1. J Hum Genet. 2000;45(4):241\u20139. \n                    https:\/\/doi.org\/10.1007\/s100380070034.","journal-title":"J Hum Genet"},{"issue":"18","key":"1005_CR5","doi-asserted-by":"publisher","first-page":"2715","DOI":"10.1093\/hmg\/9.18.2715","volume":"9","author":"EJ Bonten","year":"2000","unstructured":"Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet. 2000;9(18):2715\u201325. \n                    https:\/\/doi.org\/10.1093\/hmg\/9.18.2715\n                    \n                  .","journal-title":"Hum Mol Genet"},{"issue":"2","key":"1005_CR6","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1159\/000008141","volume":"43","author":"S Palmeri","year":"2000","unstructured":"Palmeri S, Villanova M, Malandrini A, van Diggelen OP, Huijmans JG, Ceuterick C, et al. Type I sialidosis: a clinical, biochemical and neuroradiological study. Eur Neurol. 2000;43(2):88\u201394. \n                    https:\/\/doi.org\/10.1159\/000008141\n                    \n                  .","journal-title":"Eur Neurol"},{"issue":"7","key":"1005_CR7","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1093\/hmg\/9.7.1075","volume":"9","author":"KE Lukong","year":"2000","unstructured":"Lukong KE. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Hum Mol Genet. 2000;9(7):1075\u201385. \n                    https:\/\/doi.org\/10.1093\/hmg\/9.7.1075\n                    \n                  .","journal-title":"Hum Mol Genet"},{"issue":"1","key":"1005_CR8","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s10038-002-8652-7","volume":"47","author":"K Itoh","year":"2002","unstructured":"Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, et al. Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. J Hum Genet. 2002;47(1):29\u201337. \n                    https:\/\/doi.org\/10.1007\/s10038-002-8652-7.","journal-title":"J Hum Genet"},{"issue":"8","key":"1005_CR9","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1111\/j.1468-1331.2009.02622.x","volume":"16","author":"SC Lai","year":"2009","unstructured":"Lai SC, Chen RS, Wu Chou YH, Chang HC, Kao LY, Huang YZ, et al. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. Eur J Neurol. 2009;16(8):912\u20139. \n                    https:\/\/doi.org\/10.1111\/j.1468-1331.2009.02622.x\n                    \n                  .","journal-title":"Eur J Neurol"},{"issue":"6","key":"1005_CR10","first-page":"1048","volume":"136","author":"P Ranganath","year":"2012","unstructured":"Ranganath P, Sharma V, Danda S, Nandineni MR, Dalal AB. Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India. Indian J Med Res. 2012;136(6):1048\u201350.","journal-title":"Indian J Med Res"},{"issue":"1","key":"1005_CR11","doi-asserted-by":"publisher","first-page":"119","DOI":"10.2169\/internalmedicine.52.8901","volume":"52","author":"Y Sekijima","year":"2013","unstructured":"Sekijima Y, Nakamura K, Kishida D, Narita A, Adachi K, Ohno K, et al. Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene. Intern Med (Tokyo, Japan). 2013;52(1):119\u201324.","journal-title":"Intern Med (Tokyo, Japan)"},{"key":"1005_CR12","doi-asserted-by":"publisher","first-page":"bcr2014205871","DOI":"10.1136\/bcr-2014-205871","volume":"2014","author":"I Sobral","year":"2014","unstructured":"Sobral I, Cachulo Mda L, Figueira J, Silva R. Sialidosis type I: ophthalmological findings. BMJ Case Rep. 2014;2014:bcr2014205871. \n                    https:\/\/doi.org\/10.1136\/bcr-2014-205871.","journal-title":"BMJ Case Rep"},{"issue":"22","key":"1005_CR13","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.1212\/WNL.0000000000000482","volume":"82","author":"L Canafoglia","year":"2014","unstructured":"Canafoglia L, Robbiano A, Pareyson D, Panzica F, Nanetti L, Giovagnoli AR, et al. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Neurology. 2014;82(22):2003\u20136. \n                    https:\/\/doi.org\/10.1212\/wnl.0000000000000482\n                    \n                  .","journal-title":"Neurology"},{"key":"1005_CR14","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1007\/8904_2015_472.","volume":"25","author":"IF Schene","year":"2016","unstructured":"Schene IF, Kalinina Ayuso V. de Sain-van der Velden M, van Gassen KL, Cuppen I, van Hasselt PM, et al. pitfalls in diagnosing neuraminidase deficiency: psychosomatics and Normal sialic acid excretion. JIMD Rep. 2016;25:9\u201313. \n                    https:\/\/doi.org\/10.1007\/8904_2015_472.","journal-title":"JIMD Rep"},{"key":"1005_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgmr.2016.11.004.","volume":"10","author":"U M\u00fctze","year":"2017","unstructured":"M\u00fctze U, B\u00fcrger F, Hoffmann J, Tegetmeyer H, Heichel J, Nickel P, et al. Multigene panel next generation sequencing in a patient with cherry red macular spot: identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings. Mol Gen Metab Rep. 2017;10:1\u20134. \n                    https:\/\/doi.org\/10.1016\/j.ymgmr.2016.11.004.","journal-title":"Mol Gen Metab Rep"},{"issue":"5","key":"1005_CR16","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1007\/s12098-016-2286-9","volume":"84","author":"VK Gowda","year":"2017","unstructured":"Gowda VK, Srinivasan VM, Benakappa N, Benakappa A. Sialidosis type 1 with a novel mutation in the Neuraminidase-1 (NEU1) gene. Indian J Pediatr. 2017;84(5):403\u20134. \n                    https:\/\/doi.org\/10.1007\/s12098-016-2286-9\n                    \n                  .","journal-title":"Indian J Pediatr"},{"issue":"13","key":"1005_CR17","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1212\/WNL.0000000000005209","volume":"90","author":"A Aravindhan","year":"2018","unstructured":"Aravindhan A, Veerapandiyan A, Earley C, Thulasi V, Kresge C, Kornitzer J. Child neurology: type 1 sialidosis due to a novel mutation in NEU1 gene. Neurology. 2018;90(13):622\u20134. \n                    https:\/\/doi.org\/10.1212\/wnl.0000000000005209\n                    \n                  .","journal-title":"Neurology"},{"key":"1005_CR18","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.ebcr.2018.02.005","volume":"10","author":"SC Hu","year":"2018","unstructured":"Hu SC, Hung KL, Chen HJ, Lee WT. Seizure remission and improvement of neurological function in sialidosis with perampanel therapy. Epilepsy Behav Case Rep. 2018;10:32\u20134. \n                    https:\/\/doi.org\/10.1016\/j.ebcr.2018.02.005\n                    \n                  .","journal-title":"Epilepsy Behav Case Rep"},{"key":"1005_CR19","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.ymgmr.2017.12.005","volume":"15","author":"AN Mohammad","year":"2018","unstructured":"Mohammad AN, Bruno KA, Hines S, Atwal PS. Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. Mol Gen Metab Rep. 2018;15:11\u20134. \n                    https:\/\/doi.org\/10.1016\/j.ymgmr.2017.12.005\n                    \n                  .","journal-title":"Mol Gen Metab Rep"},{"issue":"1","key":"1005_CR20","doi-asserted-by":"publisher","first-page":"57","DOI":"10.17712\/nsj.2018.1.20170328","volume":"23","author":"M Gultekin","year":"2018","unstructured":"Gultekin M, Bayramov R, Karaca C, Acer N. Sialidosis type I presenting with a novel mutation and advanced neuroimaging features. Neurosciences (Riyadh, Saudi Arabia). 2018;23(1):57\u201361. \n                    https:\/\/doi.org\/10.17712\/nsj.2018.1.20170328.","journal-title":"Neurosciences (Riyadh, Saudi Arabia)"},{"issue":"1","key":"1005_CR21","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1007\/s11682-016-9517-6","volume":"11","author":"CS Lu","year":"2017","unstructured":"Lu CS, Ng SH, Lai SC, Kao LY, Liu L, Lin WY, et al. Cortical damage in the posterior visual pathway in patients with sialidosis type 1. Brain Imaging Behav. 2017;11(1):214\u201323. \n                    https:\/\/doi.org\/10.1007\/s11682-016-9517-6\n                    \n                  .","journal-title":"Brain Imaging Behav"},{"issue":"5","key":"1005_CR22","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1517\/21678707.2015.1025746","volume":"3","author":"A d'Azzo","year":"2015","unstructured":"d'Azzo A, Machado E, Annunziata I. Pathogenesis, emerging therapeutic targets and treatment in Sialidosis. Expert Opin Orphan Drugs. 2015;3(5):491\u2013504. \n                    https:\/\/doi.org\/10.1517\/21678707.2015.1025746\n                    \n                  .","journal-title":"Expert Opin Orphan Drugs"},{"issue":"3","key":"1005_CR23","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1055\/s-0035-1552620","volume":"35","author":"R Kalviainen","year":"2015","unstructured":"Kalviainen R. Progressive myoclonus epilepsies. Semin Neurol. 2015;35(3):293\u20139. \n                    https:\/\/doi.org\/10.1055\/s-0035-1552620\n                    \n                  .","journal-title":"Semin Neurol"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-019-1005-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12311-019-1005-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-019-1005-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T19:11:50Z","timestamp":1578683510000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12311-019-1005-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,11]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["1005"],"URL":"https:\/\/doi.org\/10.1007\/s12311-019-1005-2","relation":{},"ISSN":["1473-4222","1473-4230"],"issn-type":[{"value":"1473-4222","type":"print"},{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,11]]},"assertion":[{"value":"11 January 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}