{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T13:51:34Z","timestamp":1791726694365,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>\n                    Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes:\n                    <jats:italic>CCM1<\/jats:italic>\n                    (K-Rev interaction trapped 1 (KRIT1)),\n                    <jats:italic>CCM2<\/jats:italic>\n                    (MGC4607), and\n                    <jats:italic>CCM3<\/jats:italic>\n                    (PDCD10). CCMs occur as a single or multiple malformations that can lead to seizures, focal neurological deficits, hemorrhagic stroke, and headache. However, patients are frequently asymptomatic. In our previous mutation screening, performed in a cohort of 95 Italian patients, both sporadic and familial, we have identified several mutations in CCM genes, three of which in three distinct sporadic patients. In this study, representing further molecular screening of the three CCM genes, in a south Italian cohort of CCM patients enrolled by us in the last three years, we report the identification of other four new mutations in 40 sporadic patients with either single or multiple CCM.\n                  <\/jats:p>","DOI":"10.1155\/2013\/459253","type":"journal-article","created":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T17:02:56Z","timestamp":1377190976000},"page":"1-8","source":"Crossref","is-referenced-by-count":17,"title":["Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients"],"prefix":"10.1155","volume":"2013","author":[{"given":"Rosalia","family":"D\u2019Angelo","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"},{"name":"IRCCS Centro Neurolesi \u201cBonino-Pulejo\u201d, Via Palermo SS. 113, Contrada Casazza, 98122 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Alafaci","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Scimone","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"},{"name":"Biology and Cellular Biotechnologies, Department of Animal Biology and Marine Ecology, University of Messina, Salita Sperone 31, 98166 S. Agata, Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Ruggeri","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco Maria","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"},{"name":"Clinic of Neurosurgery, United Hospitals \u201cPapardo-Piemonte\u201d, Contrada Sperone, 98158 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Placido","family":"Bramanti","sequence":"additional","affiliation":[{"name":"IRCCS Centro Neurolesi \u201cBonino-Pulejo\u201d, Via Palermo SS. 113, Contrada Casazza, 98122 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Tomasello","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonina","family":"Sidoti","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy"},{"name":"IRCCS Centro Neurolesi \u201cBonino-Pulejo\u201d, Via Palermo SS. 113, Contrada Casazza, 98122 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"issue":"6","key":"1","first-page":"343","volume":"319","year":"1989","journal-title":"The New England Journal of Medicine"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.71.2.188"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70053-4"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.041079"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0b013e31813e343f"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1097\/00006123-199906000-00003"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.3171\/2010.5.FOCUS10149"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2010.00441.x"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1086\/380314"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi256"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-007-0098-9"},{"issue":"3","key":"12","first-page":"327","volume":"42","year":"1999","journal-title":"Science in China C"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp124"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh393"},{"key":"15","doi-asserted-by":"crossref","first-page":"846","DOI":"10.3390\/cancers4030846","volume":"4","year":"2012","journal-title":"Cancers"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E11-02-0157"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1000132107"},{"issue":"63","key":"18","first-page":"585","volume":"10","year":"2009","journal-title":"Neuron"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200870"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.3892\/ijmm.2012.927"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn430"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20947"},{"key":"23","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s10048-013-0362-0","volume":"14","year":"2013","journal-title":"Neurogenetics"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-006-0076-7"},{"key":"25","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.jocn.2012.05.041","volume":"20","year":"2013","journal-title":"Journal of Clinical Neuroscience"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2009.07535.x"},{"issue":"10","key":"27","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1212\/01.WNL.0000144195.55540.9D","volume":"63","year":"2004","journal-title":"Neurology"},{"issue":"7","key":"28","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1212\/01.WNL.0000118299.55857.BB","volume":"62","year":"2004","journal-title":"Neurology"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-007-0109-x"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20712"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2013\/459253.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2013\/459253.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2013\/459253.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,21]],"date-time":"2017-06-21T14:15:01Z","timestamp":1498054501000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2013\/459253\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":30,"alternative-id":["459253","459253"],"URL":"https:\/\/doi.org\/10.1155\/2013\/459253","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}