{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T22:15:28Z","timestamp":1648592128054},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2014,5,10]],"date-time":"2014-05-10T00:00:00Z","timestamp":1399680000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1007\/s12031-014-0311-x","type":"journal-article","created":{"date-parts":[[2014,5,9]],"date-time":"2014-05-09T02:26:32Z","timestamp":1399602392000},"page":"723-729","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis"],"prefix":"10.1007","volume":"54","author":[{"given":"Lorena","family":"Mosca","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Rivieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Tanel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldo","family":"Bonfante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Burlina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Manfredini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Primignani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni P.","family":"Gesu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Marocchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Penco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,5,10]]},"reference":[{"key":"311_CR1","first-page":"614","volume":"138","author":"E Andreadou","year":"2008","unstructured":"Andreadou E, Papadimas G, Sfagos C (2008) A novel heterozygous mutation in the NOTCH3 gene causing CADASIL. Swiss Med Wkly 138:614\u2013617","journal-title":"Swiss Med Wkly"},{"key":"311_CR2","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1136\/jnnp.2010.223297","volume":"82","author":"P Bentley","year":"2011","unstructured":"Bentley P, Wang T, Malik O et al (2011) CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. J Neurol Neurosurg Psychiatry 82:855\u2013860","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"311_CR3","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jnnp.70.3.285","volume":"70","author":"MGJ Bousser","year":"2001","unstructured":"Bousser MGJ, Tournier-Lasserve E (2001) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: from stroke to vessel wall physiology. J Neurol Neurosurg Psychiatry 70:285\u2013287","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"311_CR4","first-page":"277","volume":"215","author":"H Chabriat","year":"1996","unstructured":"Chabriat H, Joutel A, Vahedi K, Iba-Zizen MT, Tournier-Lasserve E, Bousser MG (1996) CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). J Mal Vasc 215:277\u2013282","journal-title":"J Mal Vasc"},{"key":"311_CR5","first-page":"376","volume":"153","author":"H Chabriat","year":"1997","unstructured":"Chabriat H, Joutel A, Vahedi K, Iba-Zizen MT, Tournier-Lasserve E, Bousser MG (1997) CADASIL. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Rev Neurol (Paris) 153:376\u2013385","journal-title":"Rev Neurol (Paris)"},{"key":"311_CR6","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/S1474-4422(09)70127-9","volume":"8","author":"H Chabriat","year":"2009","unstructured":"Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) CADASIL. Lancet Neurol 8:643\u2013653","journal-title":"Lancet Neurol"},{"key":"311_CR7","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1002\/jcp.22901","volume":"227","author":"G Maio Di","year":"2012","unstructured":"Di Maio G, Formichi P, Radi E et al (2012) Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models. J Cell Physiol 227:1771\u20131775","journal-title":"J Cell Physiol"},{"key":"311_CR8","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1136\/jnnp.2004.048207","volume":"76","author":"MT Dotti","year":"2005","unstructured":"Dotti MT, Federico A, Mazzei R et al (2005) The spectrum of Notch3 mutations in 28 Italian CADASIL families. J Neurol Neurosurg Psychiatry 76:736\u2013738","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"311_CR9","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s10072-005-0444-3","volume":"26","author":"A Federico","year":"2005","unstructured":"Federico A, Bianchi S, Dotti MT (2005) The spectrum of mutations for CADASIL diagnosis. Neurol Sci 26:117\u2013124","journal-title":"Neurol Sci"},{"key":"311_CR10","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1111\/j.1469-8749.2008.03241.x","volume":"51","author":"J Granild-Jensen","year":"2009","unstructured":"Granild-Jensen J, Jensen UB, Schwartz M, Hansen US (2009) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male. Dev Med Child Neurol 51:754\u2013757","journal-title":"Dev Med Child Neurol"},{"key":"311_CR11","doi-asserted-by":"crossref","first-page":"e17","DOI":"10.1016\/j.neurobiolaging.2010.03.025","volume":"33","author":"RJ Guerreiro","year":"2012","unstructured":"Guerreiro RJ, Lohmann E, Kinsella E et al (2012) Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer\u2019s disease. Neurobiol Aging 33:e17\u2013e23","journal-title":"Neurobiol Aging"},{"key":"311_CR12","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/s10072-003-0196-x","volume":"24","author":"D Guidetti","year":"2003","unstructured":"Guidetti D, Casali B, Mazzei RL et al (2003) An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene. Neurol Sci 24:401\u2013406","journal-title":"Neurol Sci"},{"key":"311_CR13","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1177\/0891988710383570","volume":"23","author":"D Herv\u00e9","year":"2010","unstructured":"Herv\u00e9 D, Chabriat H (2010) CADASIL. J Geriatr Psychiatry Neurol 23:269\u2013276","journal-title":"J Geriatr Psychiatry Neurol"},{"key":"311_CR14","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1001\/archneurol.2011.781","volume":"68","author":"SJ Lee","year":"2011","unstructured":"Lee SJ, Meng H, Elmadhoun O, Blaivas M, Wang MM (2011) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man. Arch Neurol 68:1584\u20131586","journal-title":"Arch Neurol"},{"key":"311_CR15","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.semcdb.2012.02.005","volume":"23","author":"A Louvi","year":"2012","unstructured":"Louvi A, Artavanis-Tsakonas S (2012) Notch and disease: a growing field. Semin Cell Dev Biol 23:473\u2013480","journal-title":"Semin Cell Dev Biol"},{"key":"311_CR16","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1212\/WNL.59.8.1134","volume":"59","author":"HS Markus","year":"2002","unstructured":"Markus HS, Martin RJ, Simpson MA et al (2002) Diagnostic strategies in CADASIL. Neurology 59:1134\u20131138","journal-title":"Neurology"},{"key":"311_CR17","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human necleated cells. Nucleic Acids Res 16:1215","journal-title":"Nucleic Acids Res"},{"key":"311_CR18","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.jns.2011.04.019","volume":"307","author":"L Mosca","year":"2011","unstructured":"Mosca L, Marazzi R, Ciccone A et al (2011) NOTCH3 gene mutations in subjects clinically suspected of CADASIL. J Neurol Sci 307:144\u2013148","journal-title":"J Neurol Sci"},{"key":"311_CR19","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1212\/WNL.0b013e3181c7da7c","volume":"74","author":"L Pantoni","year":"2010","unstructured":"Pantoni L, Pescini F, Nannucci S et al (2010) Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. Neurology 74:57\u201363","journal-title":"Neurology"},{"key":"311_CR20","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jns.2008.04.015","volume":"271","author":"L Pradotto","year":"2008","unstructured":"Pradotto L, Azan G, Doriguzzi C, Valentini C, Mauro A (2008) Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene. J Neurol Sci 271:207\u2013210","journal-title":"J Neurol Sci"},{"key":"311_CR21","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1136\/jnnp.2004.051847","volume":"76","author":"SS Razvi","year":"2005","unstructured":"Razvi SS, Davidson R, Bone I, Muir KW (2005) The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 76:739\u2013741","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"311_CR22","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1007\/s00415-012-6468-8","volume":"259","author":"S Reyes","year":"2012","unstructured":"Reyes S, Kurtz A, Herv\u00e9 D et al (2012) Presymptomatic genetic testing in CADASIL. J Neurol 259:2131\u20132136","journal-title":"J Neurol"},{"key":"311_CR23","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1161\/01.STR.0000254530.38417.07","volume":"38","author":"A Rufa","year":"2007","unstructured":"Rufa A, Guideri F, Acampa M et al (2007) Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke 38:276\u2013280","journal-title":"Stroke"},{"key":"311_CR24","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1212\/01.wnl.0000224758.52970.19","volume":"67","author":"S Saiki","year":"2006","unstructured":"Saiki S, Sakai K, Saiki M et al (2006) Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene. Neurology 67:337\u2013339","journal-title":"Neurology"},{"key":"311_CR25","unstructured":"Tarlarini C, Marazzi R, Span\u00f2 F, Mosca L, Primignani P, Penco S (2012) Cardiomiopatia dilatativa e sofferenza cerebrovascolare in paziente con mutazione in NOTCH3. Convegno monotematico SIF: nuove frontiere nella terapia dell\u2019aterosclerosi. Milano 03\/02\/2012"},{"key":"311_CR26","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.jns.2012.05.025","volume":"319","author":"S Testi","year":"2012","unstructured":"Testi S, Malerba G, Ferrarini M et al (2012) Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). J Neurol Sci 319:37\u201341","journal-title":"J Neurol Sci"},{"key":"311_CR27","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng0393-256","volume":"3","author":"E Tournier-Lasserve","year":"2003","unstructured":"Tournier-Lasserve E, Joutel A, Melki J et al (2003) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3:256\u2013259","journal-title":"Nat Genet"},{"key":"311_CR28","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1002\/jnr.21935","volume":"87","author":"C Ungaro","year":"2009","unstructured":"Ungaro C, Mazzei R, Conforti FL et al (2009) CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. J Neurosci Res 87:1162\u20131167","journal-title":"J Neurosci Res"},{"key":"311_CR29","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/S0140-6736(07)60111-1","volume":"369","author":"FO Walker","year":"2007","unstructured":"Walker FO (2007) Huntington\u2019s disease. Lancet 369:218\u2013228","journal-title":"Lancet"},{"key":"311_CR30","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.jocn.2012.02.026","volume":"20","author":"F Weiming","year":"2013","unstructured":"Weiming F, Yuliang W, Youjie L, Xinsheng L, Shuyang X, Zhaoxia L (2013) A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). J Clin Neurosci 20:322\u2013323","journal-title":"J Clin Neurosci"},{"key":"311_CR31","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1002\/1529-0131(199910)42:10<2243::AID-ANR30>3.0.CO;2-D","volume":"42","author":"EE Williamson","year":"1999","unstructured":"Williamson EE, Chukwudelunzu FE, Meschia JF, Witte RJ, Dickson DW, Cohen MD (1999) Distinguishing primary angiitis of the central nervous system from cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: the importance of family history. Arthritis Rheum 42:2243\u20132248","journal-title":"Arthritis Rheum"},{"key":"311_CR32","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1001\/jama.1997.03540350075038","volume":"277","author":"World Medical Association (WMA) declaration of Helsinki","year":"1997","unstructured":"World Medical Association (WMA) declaration of Helsinki (1997) Recommendations guiding physicians in biomedical research involving human subjects. J Am Med Assoc 277:925\u2013926","journal-title":"J Am Med Assoc"},{"key":"311_CR33","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/j.1365-2990.2010.01147.x","volume":"37","author":"Y Yamamoto","year":"2011","unstructured":"Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN (2011) Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. Neuropathol Appl Neurobiol 37:94\u2013113","journal-title":"Neuropathol Appl Neurobiol"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-014-0311-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12031-014-0311-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-014-0311-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T02:25:04Z","timestamp":1559442304000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12031-014-0311-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,10]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["311"],"URL":"https:\/\/doi.org\/10.1007\/s12031-014-0311-x","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,10]]}}}