{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T08:25:31Z","timestamp":1787819131006,"version":"build-2784847793"},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","jns-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.jns.2017.06.043","type":"journal-article","created":{"date-parts":[[2017,6,29]],"date-time":"2017-06-29T17:01:27Z","timestamp":1498755687000},"page":"31-37","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"special_numbering":"C","title":["Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations"],"prefix":"10.1016","volume":"380","author":[{"given":"Carmela","family":"Rinaldi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0394-8166","authenticated-orcid":false,"given":"Placido","family":"Bramanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Scimone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Donato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Alafaci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalia","family":"D'Angelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonina","family":"Sidoti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2017.06.043_bb0005","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jnnp.71.2.188","article-title":"Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations","volume":"71","author":"Clatterbuck","year":"2001","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"6","key":"10.1016\/j.jns.2017.06.043_bb0010","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1086\/380314","article-title":"Mutations in a gene encoding a novel protein containing a phosphotyrosine binding domain cause type 2 cerebral cavernous malformations","volume":"73","author":"Liquori","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2017.06.043_bb0015","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1093\/hmg\/7.12.1851","article-title":"Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27","volume":"7","author":"Craig","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jns.2017.06.043_bb0020","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1093\/hmg\/11.4.389","article-title":"KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis","volume":"11","author":"Zawistowski","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jns.2017.06.043_bb0025","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1002\/ana.20112","article-title":"CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations","volume":"55","author":"Verlaan","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2017.06.043_bb0030","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1242\/dev.01036","article-title":"Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations","volume":"131","author":"Whitehead","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.jns.2017.06.043_bb0035","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1086\/426952","article-title":"Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations","volume":"76","author":"Bergametti","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2017.06.043_bb0040","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S1474-4422(07)70053-4","article-title":"Genetics of cavernous angiomas","volume":"6","author":"Labauge","year":"2007","journal-title":"Lancet Neurol."},{"issue":"5","key":"10.1016\/j.jns.2017.06.043_bb0045","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.b.30381","article-title":"Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations","volume":"144B","author":"Gianfrancesco","year":"2007","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"10.1016\/j.jns.2017.06.043_bb0050","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1056\/NEJM198808113190605","article-title":"Cerebral cavernous malformations. Incidence and familial occurrence","volume":"319","author":"Rigamonti","year":"1988","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jns.2017.06.043_bb0055","doi-asserted-by":"crossref","first-page":"1892","DOI":"10.1016\/S0140-6736(98)03011-6","article-title":"Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families","volume":"352","author":"Labauge","year":"1988","journal-title":"Lancet"},{"key":"10.1016\/j.jns.2017.06.043_bb0060","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1136\/jmg.2006.041079","article-title":"Cerebral cavernous malformation: new molecular and clinical insights","volume":"43","author":"Revencu","year":"2006","journal-title":"J. Med. Genet."},{"issue":"2","key":"10.1016\/j.jns.2017.06.043_bb0065","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ana.10804","article-title":"Clinical features of cerebral cavernous malformations patients with KRIT1 mutations","volume":"55","author":"Denier","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2017.06.043_bb0070","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1038\/nrneurol.2009.177","article-title":"Cavernous malformations: natural history, diagnosis and treatment","volume":"5","author":"Batra","year":"2009","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.jns.2017.06.043_bb0075","first-page":"1166","article-title":"The natural history of cavernous malformations: a prospective study of 68 patients","volume":"44","author":"Moriarity","year":"1994","journal-title":"Neurosurgery"},{"issue":"5","key":"10.1016\/j.jns.2017.06.043_bb0080","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1111\/j.1742-4658.2009.07535.x","article-title":"Recent insights into cerebral cavernous malformations: the molecular genetics of CCM","volume":"277","author":"Riant","year":"2010","journal-title":"FEBS J."},{"key":"10.1016\/j.jns.2017.06.043_bb0085","unstructured":"D'Angelo, R. Marini, V. Rinaldi, C. Origone, P. Dorcaratto, A. Avolio, M. Goitre, L. Forni, M. Capra, V. Alafaci, C. Mareni, C. Garr\u00e8, C. Bramanti, P. Sidoti, A. Retta, SF. Amato, A. Mutation analysis of ccm1, ccm2 and ccm3 genes in a cohort of Italian patients with cerebral cavernous malformation Brain Pathol. 2011; 21 (2):215\u2013224."},{"issue":"6","key":"10.1016\/j.jns.2017.06.043_bb0090","first-page":"1113","article-title":"CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study","volume":"29","author":"D'Angelo","year":"2012","journal-title":"Int. J. Mol. Med."},{"key":"10.1016\/j.jns.2017.06.043_bb0095","article-title":"Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients","volume":"2013","author":"D'Angelo","year":"2013","journal-title":"Biomed. Res. Int."},{"key":"10.1016\/j.jns.2017.06.043_bb0115","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1600-0404.1998.tb07315.x","article-title":"Familial cavernous angioma: an unknown, known disease","volume":"98","author":"Siegel","year":"1998","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.jns.2017.06.043_bb0120","doi-asserted-by":"crossref","first-page":"518","DOI":"10.3171\/jns.1987.67.4.0518","article-title":"The MRI appearance of cavernous malformations (angiomas)","volume":"67","author":"Rigamonti","year":"1987","journal-title":"J. Neurosurg."},{"issue":"1","key":"10.1016\/j.jns.2017.06.043_bb0125","doi-asserted-by":"crossref","first-page":"e86286","DOI":"10.1371\/journal.pone.0086286","article-title":"Mutation prevalence of cerebral cavernous malformation genes in Spanish patients","volume":"9","author":"Mond\u00e9jar","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.jns.2017.06.043_bb0130","series-title":"Molecular Cloning: A Laboratory Manual. Cold Spring Harbor","year":"1989"},{"issue":"17","key":"10.1016\/j.jns.2017.06.043_bb0135","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana DNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.jns.2017.06.043_bb0140","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","article-title":"Prediction of human mRNADonor and acceptor sites from the DNA sequence","volume":"220","author":"Brunak","year":"1991","journal-title":"J. Mol. Biol."},{"issue":"9","key":"10.1016\/j.jns.2017.06.043_bb0145","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1093\/bioinformatics\/btp124","article-title":"SpliceAid: a database of experimental RNA target motifsbound by splicing proteins in humans","volume":"25","author":"Piva","year":"2009","journal-title":"Bioinformatics"},{"issue":"5","key":"10.1016\/j.jns.2017.06.043_bb0150","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1093\/hmg\/ddh056","article-title":"Muscleblind protein, MBNL1\/EXP, binds specifically to CHHG repeats","volume":"13","author":"Kino","year":"2004","journal-title":"Hum. Mol. Genet."},{"issue":"7","key":"10.1016\/j.jns.2017.06.043_bb0155","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1093\/nar\/gkp1209","article-title":"MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing","volume":"38","author":"Goers","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.jns.2017.06.043_bb0160","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/jnr.20980","article-title":"ETR-3 represses Tau exons 2\/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I","volume":"84","author":"Leroy","year":"2006","journal-title":"J. Neurosci. Res."},{"issue":"3","key":"10.1016\/j.jns.2017.06.043_bb0165","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1128\/MCB.25.3.879-887.2005","article-title":"Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment","volume":"25","author":"Faustino","year":"2005","journal-title":"Mol. Cell. Biol."},{"issue":"2","key":"10.1016\/j.jns.2017.06.043_bb0170","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1227\/NEU.0b013e3181ff9cde","article-title":"Advances in the treatment and outcome of brainstem cavernous malformation surgery: a single center case series of 300 surgically treated patients","volume":"68","author":"Abla","year":"2011","journal-title":"Neurosurgery"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17304185?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17304185?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,6,19]],"date-time":"2018-06-19T05:27:50Z","timestamp":1529386070000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X17304185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":31,"alternative-id":["S0022510X17304185"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2017.06.043","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2017.06.043","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}