{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T07:35:18Z","timestamp":1695540918989},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,8,3]],"date-time":"2014-08-03T00:00:00Z","timestamp":1407024000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2014,8,3]],"date-time":"2014-08-03T00:00:00Z","timestamp":1407024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/s12883-014-0158-3","type":"journal-article","created":{"date-parts":[[2014,8,2]],"date-time":"2014-08-02T16:35:12Z","timestamp":1406997312000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel CCM1mutation associated with multiple cerebral and vertebral cavernous malformations"],"prefix":"10.1186","volume":"14","author":[{"given":"Silvia","family":"Lanfranconi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naghia","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vittorio","family":"Civelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Basilico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nereo","family":"Bresolin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo Pietro","family":"Comi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,8,3]]},"reference":[{"key":"158_CR1","doi-asserted-by":"publisher","first-page":"518","DOI":"10.3171\/jns.1987.67.4.0518","volume":"67","author":"D Rigamonti","year":"1987","unstructured":"Rigamonti D, Drayer BP, Johnson PC, Hadley MN, Zabramski J, Spetzler RF: The MRI appearance of cavernous malformations (angiomas). J Neurosurg. 1987, 67: 518-524. 10.3171\/jns.1987.67.4.0518.","journal-title":"J Neurosurg"},{"key":"158_CR2","first-page":"82","volume":"35","author":"P Otten","year":"1989","unstructured":"Otten P, Pizzolato GP, Rilliet B, Berney J: 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie. 1989, 35: 82-83. 128\u2013131","journal-title":"Neurochirurgie"},{"key":"158_CR3","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/S1474-4422(07)70053-4","volume":"6","author":"P Labauge","year":"2007","unstructured":"Labauge P, Denier C, Bergametti F, Tournier-Lasserve E: Genetics of cavernous angiomas. Lancet Neurol. 2007, 6: 237-244. 10.1016\/S1474-4422(07)70053-4.","journal-title":"Lancet Neurol"},{"key":"158_CR4","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1056\/NEJM198808113190605","volume":"319","author":"D Rigamonti","year":"1988","unstructured":"Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, Spetzler RF: Cerebral cavernous malformations. Incidence and familial occurence. N Engl J Med. 1988, 319: 343-347. 10.1056\/NEJM198808113190605.","journal-title":"N Engl J Med"},{"key":"158_CR5","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1093\/hmg\/ddn420","volume":"18","author":"A Pagenstecher","year":"2009","unstructured":"Pagenstecher A, Stahl S, Sure U, Felbor U: A two-hit mechanism causes cerebral cavernous malformation: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet. 2009, 18: 911-918.","journal-title":"Hum Mol Genet"},{"key":"158_CR6","doi-asserted-by":"publisher","first-page":"2325","DOI":"10.1093\/hmg\/8.12.2325","volume":"8","author":"T Sahoo","year":"1999","unstructured":"Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA: Mutations in the gene encoding KRIT1, a Krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet. 1999, 8: 2325-2333. 10.1093\/hmg\/8.12.2325.","journal-title":"Hum Mol Genet"},{"key":"158_CR7","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1016\/j.molmed.2013.02.004","volume":"19","author":"A Fischer","year":"2013","unstructured":"Fischer A, Zalvide J, Faurobert E, Albiges-Rizo C, Tournier-Lasserve E: Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis. Trends Mol Med. 2013, 19: 302-308. 10.1016\/j.molmed.2013.02.004.","journal-title":"Trends Mol Med"},{"key":"158_CR8","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.1227\/01.NEU.0000249188.38409.03","volume":"59","author":"J Gault","year":"2006","unstructured":"Gault J, Sain S, Hu LJ, Awad IA: Spectrum of genotype and clinical manifestations in cerebral cavernous malformations. Neurosurgery. 2006, 59: 1278-1284. 10.1227\/01.NEU.0000249188.38409.03.","journal-title":"Neurosurgery"},{"key":"158_CR9","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1038\/nrneurol.2009.177","volume":"5","author":"S Batra","year":"2001","unstructured":"Batra S, Lin D, Recinos PF, Zhang J, Rigamonti D: Cavernous malformations; natural history, diagnosis and treatment. Nat Rev Neurol. 2001, 5: 659-670. 10.1038\/nrneurol.2009.177.","journal-title":"Nat Rev Neurol"},{"key":"158_CR10","doi-asserted-by":"publisher","first-page":"E24","DOI":"10.3171\/2011.3.FOCUS1165","volume":"30","author":"BA Gross","year":"2011","unstructured":"Gross BA, Lin N, Du R, Day AL: The natural history of intracranial cavernous malformations. Neurosurg Focus. 2011, 30: E24-10.3171\/2011.3.FOCUS1165.","journal-title":"Neurosurg Focus"},{"key":"158_CR11","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1002\/ana.10804","volume":"55","author":"C Denier","year":"2004","unstructured":"Denier C, Labauge P, Brunereau L, Cav\u00e9-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E: Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol. 2004, 55: 213-220. 10.1002\/ana.10804.","journal-title":"Ann Neurol"},{"key":"158_CR12","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1007\/s12031-013-0053-1","volume":"51","author":"FR Grippaudo","year":"2013","unstructured":"Grippaudo FR, Piane M, Amoroso M, Longo B, Penco S, Chessa L, Giubettini M, Santanelli F: Cutaneous venous malformations related to KRIT1 mutation: case report and literature review. J Mol Neurosci. 2013, 51: 442-445. 10.1007\/s12031-013-0053-1.","journal-title":"J Mol Neurosci"},{"key":"158_CR13","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.1111\/j.1468-3083.2009.03263.x","volume":"23","author":"J Sirvente","year":"2009","unstructured":"Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P: Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations. J Eur Acad Dermatol Venereol. 2009, 23: 1066-1072. 10.1111\/j.1468-3083.2009.03263.x.","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"158_CR14","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.nec.2007.09.010","volume":"19","author":"FL Acosta Jr","year":"2008","unstructured":"Acosta FL, Sanai N, Chi JH, Dowd CF, Chin C, Tihan T, Chou D, Weinstein PR, Ames CP: Comprehensive management of symptomatic and aggressive vertebral hemangiomas. Neurosurg Clin N Am. 2008, 19: 17-29. 10.1016\/j.nec.2007.09.010.","journal-title":"Neurosurg Clin N Am"},{"key":"158_CR15","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.surneu.2007.07.067","volume":"71","author":"I Toldo","year":"2009","unstructured":"Toldo I, Drigo P, Mammi I, Marini V, Carollo C: Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation. Surg Neurol. 2009, 71: 167-171. 10.1016\/j.surneu.2007.07.067.","journal-title":"Surg Neurol"},{"key":"158_CR16","doi-asserted-by":"publisher","first-page":"227","DOI":"10.3171\/jns.2002.97.3.0676","volume":"97","author":"RE Clatterbuck","year":"2002","unstructured":"Clatterbuck RE, Cohen B, Gailloud P, Murphy K, Rigamonti D: Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report. J Neurosurg. 2002, 97: 227-230. 10.3171\/jns.2002.97.3.0676.","journal-title":"J Neurosurg"},{"key":"158_CR17","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1227\/NEU.0b013e31822b8107","volume":"69","author":"AE Ropper","year":"2011","unstructured":"Ropper AE, Cahill KS, Hanna JW, McCarthy EF, Gokaslan ZL, Chi JH: Primary vertebral tumors: a review of epidemiologic, histological, and imaging findings, part I: benign tumors. Neurosurgery. 2011, 69: 1171-1180. 10.1227\/NEU.0b013e31822b8107.","journal-title":"Neurosurgery"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-014-0158-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-014-0158-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-014-0158-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-014-0158-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T04:57:58Z","timestamp":1630558678000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-014-0158-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,3]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["158"],"URL":"https:\/\/doi.org\/10.1186\/s12883-014-0158-3","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,3]]},"assertion":[{"value":"18 March 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 August 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"158"}}