{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:45:04Z","timestamp":1790221504265,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,12,31]],"date-time":"2016-12-31T00:00:00Z","timestamp":1483142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurolog\u00eda"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1016\/j.nrl.2015.07.001","type":"journal-article","created":{"date-parts":[[2015,8,22]],"date-time":"2015-08-22T00:58:30Z","timestamp":1440205110000},"page":"540-545","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Diagn\u00f3stico molecular de cavernomatosis cerebral"],"prefix":"10.1016","volume":"32","author":[{"given":"R.","family":"Mondejar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nrl.2015.07.001_bib0180","doi-asserted-by":"crossref","first-page":"518","DOI":"10.3171\/jns.1988.68.4.0518","article-title":"Clinical, radiological, and pathological spectrum of angiographically occult intracranial vascular malformations. Analysis of 21 cases and review of the literature","volume":"68","author":"Lobato","year":"1988","journal-title":"J Neurosurg"},{"key":"10.1016\/j.nrl.2015.07.001_bib0185","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"},{"key":"10.1016\/j.nrl.2015.07.001_bib0190","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1227\/00006123-199101000-00010","article-title":"Cavernous malformations and capillary telangiectasia: A spectrum within a single pathological entity","volume":"28","author":"Rigamonti","year":"1991","journal-title":"Neurosurgery"},{"key":"10.1016\/j.nrl.2015.07.001_bib0195","doi-asserted-by":"crossref","first-page":"339","DOI":"10.33588\/rn.3404.2001213","article-title":"Cerebral cavernomas in childhood. Clinical presentation and diagnosis","volume":"34","author":"Garcia-Morales","year":"2002","journal-title":"Rev Neurol"},{"key":"10.1016\/j.nrl.2015.07.001_bib0200","doi-asserted-by":"crossref","first-page":"702","DOI":"10.3171\/jns.1991.75.5.0702","article-title":"An analysis of the natural history of cavernous angiomas","volume":"75","author":"Del Curling","year":"1991","journal-title":"J Neurosurg"},{"key":"10.1016\/j.nrl.2015.07.001_bib0205","doi-asserted-by":"crossref","first-page":"709","DOI":"10.3171\/jns.1991.75.5.0709","article-title":"Natural history of the cavernous angioma","volume":"75","author":"Robinson","year":"1991","journal-title":"J Neurosurg"},{"key":"10.1016\/j.nrl.2015.07.001_bib0210","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jnnp.2006.113753","article-title":"Differences between intracranial vascular malformation types in the characteristics of their presenting haemorrhages: Prospective, population-based study","volume":"79","author":"Cordonnier","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nrl.2015.07.001_bib0215","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. Soci\u00e9t\u00e9 Fran\u00e7aise de Neurochirurgie","volume":"352","author":"Labauge","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0220","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/ana.20947","article-title":"Genotype-phenotype correlations in cerebral cavernous malformations patients","volume":"60","author":"Denier","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nrl.2015.07.001_bib0225","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":"Mondejar","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.nrl.2015.07.001_bib0230","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s10048-013-0362-0","article-title":"CCM molecular screening in a diagnosis context: Novel unclassified variants leading to abnormal splicing and importance of large deletions","volume":"14","author":"Riant","year":"2013","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nrl.2015.07.001_bib0235","series-title":"Gu\u00eda para la utilizaci\u00f3n de m\u00e9todos y t\u00e9cnicas diagn\u00f3sticas en el ictus. Gu\u00eda para el diagn\u00f3stico y tratamiento del ictus. Comit\u00e9 ad hoc del Grupo de Estudio de Enfermedades Cerebrovasculares de la SEN. Sociedad Espa\u00f1ola de Neurolog\u00eda","first-page":"24","author":"\u00c1lvarez Sab\u00edn","year":"2006"},{"key":"10.1016\/j.nrl.2015.07.001_bib0240","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/13815","article-title":"Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas","volume":"23","author":"Laberge-le","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0245","doi-asserted-by":"crossref","first-page":"2325","DOI":"10.1093\/hmg\/8.12.2325","article-title":"Mutations in the gene encoding KRIT1, a Krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1)","volume":"8","author":"Sahoo","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0250","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.nrl.2015.07.001_bib0255","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.nrl.2015.07.001_bib0260","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1007\/s00415-006-0359-9","article-title":"Study of cerebral cavernous malformation in Spain and Portugal: High prevalence of a 14bp deletion in exon 5 of MGC4607 (CCM2 gene)","volume":"254","author":"Ortiz","year":"2007","journal-title":"J Neurol"},{"key":"10.1016\/j.nrl.2015.07.001_bib0265","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1002\/1531-8249(200006)47:6<836::AID-ANA22>3.0.CO;2-9","article-title":"Spanish families with cerebral cavernous angioma do not bear 742C\u2192T Hispanic American mutation of the KRIT1 gene","volume":"47","author":"Lucas","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nrl.2015.07.001_bib0270","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s10048-006-0076-7","article-title":"Large germline deletions and duplication in isolated cerebral cavernous malformation patients","volume":"8","author":"Felbor","year":"2007","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nrl.2015.07.001_bib0275","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s10143-006-0057-1","article-title":"CCM1 gene deletion identified by MLPA in cerebral cavernous malformation","volume":"30","author":"Gaetzner","year":"2007","journal-title":"Neurosurg Rev"},{"key":"10.1016\/j.nrl.2015.07.001_bib0280","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1086\/510439","article-title":"Deletions in CCM2 are a common cause of cerebral cavernous malformations","volume":"80","author":"Liquori","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0285","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: An online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nrl.2015.07.001_bib0290","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/sj.ejhg.5200870","article-title":"Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations","volume":"10","author":"Cave-Riant","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0295","first-page":"1113","article-title":"CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study","volume":"29","author":"D\u2019Angelo","year":"2012","journal-title":"Int J Mol Med"},{"key":"10.1016\/j.nrl.2015.07.001_bib0300","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1086\/340604","article-title":"Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation","volume":"70","author":"Verlaan","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0305","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1111\/j.1399-0004.2009.01154.x","article-title":"Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation","volume":"75","author":"Tonelli","year":"2009","journal-title":"Clin Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0310","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1086\/381718","article-title":"Mutations within the MGC4607 gene cause cerebral cavernous malformations","volume":"74","author":"Denier","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0315","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.nrl.2015.07.001_bib0320","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1016\/j.nrl.2015.07.001_bib0325","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/humu.20712","article-title":"Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: In-frame deletion in CCM2 prevents formation of a CCM1\/CCM2\/CCM3 protein complex","volume":"29","author":"Stahl","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nrl.2015.07.001_bib0330","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/cge.12322","article-title":"Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations","volume":"86","author":"Riant","year":"2014","journal-title":"Clin Genet"},{"key":"10.1016\/j.nrl.2015.07.001_bib0335","doi-asserted-by":"crossref","first-page":"36285","DOI":"10.1074\/jbc.M113.491993","article-title":"Several cis-regulatory elements control mRNA stability, translation efficiency, and expression pattern of Prrxl1 (Paired Related Homeobox Protein-like 1)","volume":"288","author":"Regadas","year":"2013","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nrl.2015.07.001_bib0340","doi-asserted-by":"crossref","first-page":"L497","DOI":"10.1152\/ajplung.00100.2005","article-title":"Differences in the translation efficiency and mRNA stability mediated by 5\u2019-UTR splice variants of human SP-A1 and SP-A2 genes","volume":"289","author":"Wang","year":"2005","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1016\/j.nrl.2015.07.001_bib0345","doi-asserted-by":"crossref","first-page":"597","DOI":"10.2217\/14622416.8.6.597","article-title":"High-resolution DNA melting analysis for simple and efficient molecular diagnostics","volume":"8","author":"Reed","year":"2007","journal-title":"Pharmacogenomics"},{"key":"10.1016\/j.nrl.2015.07.001_bib0350","first-page":"1265","article-title":"Genetic heterogeneity of inherited cerebral cavernous malformation","volume":"38","author":"Gunel","year":"1996","journal-title":"Neurosurgery"}],"container-title":["Neurolog\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S021348531500167X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S021348531500167X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T03:41:40Z","timestamp":1748576500000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S021348531500167X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":35,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["S021348531500167X"],"URL":"https:\/\/doi.org\/10.1016\/j.nrl.2015.07.001","relation":{},"ISSN":["0213-4853"],"issn-type":[{"value":"0213-4853","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagn\u00f3stico molecular de cavernomatosis cerebral","name":"articletitle","label":"Article Title"},{"value":"Neurolog\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nrl.2015.07.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2015 Sociedad Espa\u00f1ola de Neurolog\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}