{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T22:30:38Z","timestamp":1777415438783,"version":"3.51.4"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,1,16]],"date-time":"2010-01-16T00:00:00Z","timestamp":1263600000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"published-print":{"date-parts":[[2010,3]]},"DOI":"10.1007\/s12311-009-0154-0","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T10:13:52Z","timestamp":1263550432000},"page":"115-123","source":"Crossref","is-referenced-by-count":39,"title":["Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15"],"prefix":"10.1007","volume":"9","author":[{"given":"Eleonora","family":"Di Gregorio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Orsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimiliano","family":"Godani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Vaula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stella","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Salmon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giancarlo","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Squadrone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cesarina","family":"Abete","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Cagnoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Brussino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,1,16]]},"reference":[{"key":"154_CR1","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1093\/brain\/awl081","volume":"129","author":"AM Duenas","year":"2006","unstructured":"Duenas AM, Goold R, Giunti P (2006) Molecular pathogenesis of spinocerebellar ataxias. Brain 129:1357\u20131370","journal-title":"Brain"},{"key":"154_CR2","doi-asserted-by":"crossref","unstructured":"Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P (2009) Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum (in press)","DOI":"10.1007\/s12311-009-0144-2"},{"key":"154_CR3","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.ajhg.2009.09.019","volume":"85","author":"N Sato","year":"2009","unstructured":"Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T et al (2009) Spinocerebellar ataxia type 31 is associated with \u201cinserted\u201d penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 85:544\u2013557","journal-title":"Am J Hum Genet"},{"key":"154_CR4","first-page":"1","volume-title":"Clinical features and classification of inherited ataxias","author":"AE Harding","year":"1993","unstructured":"Harding AE (1993) Clinical features and classification of inherited ataxias. Raven, New York, pp 1\u201314"},{"key":"154_CR5","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1080\/14734220410019029","volume":"4","author":"RJ Gardner","year":"2005","unstructured":"Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E (2005) Spinocerebellar ataxia type 15. Cerebellum 4:47\u201350","journal-title":"Cerebellum"},{"key":"154_CR6","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0969-9961(03)00029-9","volume":"13","author":"MA Knight","year":"2003","unstructured":"Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P et al (2003) Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis 13:147\u2013157","journal-title":"Neurobiol Dis"},{"key":"154_CR7","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1212\/WNL.57.10.1913","volume":"57","author":"E Storey","year":"2001","unstructured":"Storey E, Gardner RJ, Knight MA, Kennerson ML, Tuck RR, Forrest SM et al (2001) A new autosomal dominant pure cerebellar ataxia. Neurology 57:1913\u20131915","journal-title":"Neurology"},{"key":"154_CR8","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1212\/01.WNL.0000110190.08412.25","volume":"62","author":"K Hara","year":"2004","unstructured":"Hara K, Fukushima T, Suzuki T, Shimohata T, Oyake M, Ishiguro H et al (2004) Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology 62:648\u2013651","journal-title":"Neurology"},{"key":"154_CR9","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1136\/jmg.2007.053942","volume":"45","author":"A Iwaki","year":"2008","unstructured":"Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W et al (2008) Heterozygous deletion of ITPR1, but not SUMF1 in spinocerebellar ataxia type 16. J Med Genet 45:32\u201335","journal-title":"J Med Genet"},{"key":"154_CR10","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1373\/clinchem.2009.124958","volume":"55","author":"D Ganesamoorthy","year":"2009","unstructured":"Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D et al (2009) Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem 55:1415\u20131418","journal-title":"Clin Chem"},{"key":"154_CR11","doi-asserted-by":"crossref","first-page":"e108","DOI":"10.1371\/journal.pgen.0030108","volume":"3","author":"J Leemput van de","year":"2007","unstructured":"van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR et al (2007) Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 3:e108","journal-title":"PLoS Genet"},{"key":"154_CR12","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/01.wnl.0000311277.71046.a0","volume":"71","author":"K Hara","year":"2008","unstructured":"Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H et al (2008) Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology 71:547\u2013551","journal-title":"Neurology"},{"key":"154_CR13","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1001\/archneur.61.5.727","volume":"61","author":"A Brusco","year":"2004","unstructured":"Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C et al (2004) Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG\/CTG repeat expansion detection in 225 Italian families. Arch Neurol 61:727\u2013733","journal-title":"Arch Neurol"},{"key":"154_CR14","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1212\/01.WNL.0000148723.37489.3F","volume":"64","author":"A Brussino","year":"2005","unstructured":"Brussino A, Gellera C, Saluto A, Mariotti C, Arduino C, Castellotti B et al (2005) FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 64:145\u2013147","journal-title":"Neurology"},{"key":"154_CR15","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/brain\/awh651","volume":"129","author":"C Cagnoli","year":"2006","unstructured":"Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C et al (2006) SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129:235\u2013242","journal-title":"Brain"},{"key":"154_CR16","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-delta delta C(T)) method. Methods 25:402\u2013408","journal-title":"Methods"},{"key":"154_CR17","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1523\/JNEUROSCI.17-02-00635.1997","volume":"17","author":"VA Street","year":"1997","unstructured":"Street VA, Bosma MM, Demas VP, Regan MR, Lin DD, Robinson LC et al (1997) The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci 17:635\u2013645","journal-title":"J Neurosci"},{"key":"154_CR18","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0092-8674(03)00347-7","volume":"113","author":"T Dierks","year":"2003","unstructured":"Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M et al (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 113:435\u2013444","journal-title":"Cell"},{"key":"154_CR19","doi-asserted-by":"crossref","first-page":"e1000327","DOI":"10.1371\/journal.pgen.1000327","volume":"5","author":"PJ Hastings","year":"2009","unstructured":"Hastings PJ, Ira G, Lupski JR (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327","journal-title":"PLoS Genet"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-009-0154-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12311-009-0154-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-009-0154-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T07:53:52Z","timestamp":1559462032000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12311-009-0154-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,16]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["154"],"URL":"https:\/\/doi.org\/10.1007\/s12311-009-0154-0","relation":{},"ISSN":["1473-4222","1473-4230"],"issn-type":[{"value":"1473-4222","type":"print"},{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,16]]}}}