{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T14:34:42Z","timestamp":1792852482561,"version":"4.5.0"},"reference-count":47,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T00:00:00Z","timestamp":1722902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013790","name":"Brain Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013790","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["RG\/4\/32218"],"award-info":[{"award-number":["RG\/4\/32218"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018956","name":"NIHR Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","award":["BRC-1215-20014"],"award-info":[{"award-number":["BRC-1215-20014"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011963","name":"European Academy of Neurology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019709","name":"Dolby Family Ventures","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019709","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["716344"],"award-info":[{"award-number":["716344"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012317","name":"UCLH Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013128","name":"Multiple System Atrophy Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013128","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50HD109879"],"award-info":[{"award-number":["P50HD109879"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024893","name":"Cambridge BHF Centre of Research Excellence","doi-asserted-by":"publisher","award":["RE\/18\/1\/34212"],"award-info":[{"award-number":["RE\/18\/1\/34212"]}],"id":[{"id":"10.13039\/501100024893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EXC-2189"],"award-info":[{"award-number":["EXC-2189"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["390939984"],"award-info":[{"award-number":["390939984"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["HE 8803\/1\\u20131"],"award-info":[{"award-number":["HE 8803\/1\\u20131"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018889","name":"Multiple System Atrophy Coalition","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018889","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["KK.01.1.1.01.0008"],"award-info":[{"award-number":["KK.01.1.1.01.0008"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Research and Innovation Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","thelancet.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["eBioMedicine"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.ebiom.2024.105297","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T20:32:09Z","timestamp":1724704329000},"page":"105297","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"special_numbering":"C","title":["Clinical and neuroradiological spectrum of biallelic variants in NOTCH3"],"prefix":"10.1016","volume":"107","author":[{"given":"Pablo","family":"Iruzubieta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9sar Augusto Pinheiro Ferreira","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8757-7782","authenticated-orcid":false,"given":"Aisha M.","family":"Al Shamsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gehad","family":"ElGhazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Pinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Lopergolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard P.H.","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy A.","family":"Jolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna","family":"Al Futaisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatema","family":"Al-Amrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Galli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Fazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Vulin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5064-6203","authenticated-orcid":false,"given":"Francisco","family":"Barajas-Olmos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Hengel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bayan Mohammed","family":"Aljamal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahideh","family":"Nasr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farhad","family":"Assarzadegan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Ragno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Trojano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi Meave","family":"Ojeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8129-4172","authenticated-orcid":false,"given":"Arman","family":"\u00c7akar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pescini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Poggesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Al Tenalji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Aziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahema","family":"Mohammad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziza","family":"Chedrawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"De Stefano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Rebelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz","family":"Koc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyn R.","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Orozco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karla Garc\u00eda","family":"Helmes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meisam","family":"Babaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won","family":"Chan Jeong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Schmidts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan Sami","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bita","family":"Shalbafan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh S.","family":"Markus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ebiom.2024.105297_bib1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.3988\/jcn.2023.19.1.12","article-title":"Update on the epidemiology, pathogenesis, and biomarkers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"19","author":"Yamamoto","year":"2023","journal-title":"J\u00a0Clin Neurol"},{"issue":"1\u20133","key":"10.1016\/j.ebiom.2024.105297_bib2","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.pbiomolbio.2007.07.006","article-title":"An overview of Notch 3 function in vascular smooth muscle cells","volume":"96","author":"Wang","year":"2008","journal-title":"Prog Biophys Mol Biol"},{"issue":"6602","key":"10.1016\/j.ebiom.2024.105297_bib3","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/383707a0","article-title":"Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia","volume":"383","author":"Joutel","year":"1996","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.ebiom.2024.105297_bib4","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1111\/ene.14183","article-title":"Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology","volume":"27","author":"Mancuso","year":"2020","journal-title":"Eur J Neurol"},{"issue":"8","key":"10.1016\/j.ebiom.2024.105297_bib5","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1161\/01.STR.32.8.1767","article-title":"Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch 3 mutation","volume":"32","author":"Tuominen","year":"2001","journal-title":"Stroke"},{"issue":"August","key":"10.1016\/j.ebiom.2024.105297_bib6","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jns.2018.08.029","article-title":"A\u00a0Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically","volume":"394","author":"Mukai","year":"2018","journal-title":"J\u00a0Neurol Sci"},{"issue":"12","key":"10.1016\/j.ebiom.2024.105297_bib7","first-page":"1978","article-title":"Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms","volume":"255","author":"Liem","year":"2008","journal-title":"J\u00a0Neurol"},{"issue":"2","key":"10.1016\/j.ebiom.2024.105297_bib8","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1007\/s10072-021-05706-0","article-title":"First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient","volume":"43","author":"Ragno","year":"2022","journal-title":"Neurol Sci"},{"issue":"11","key":"10.1016\/j.ebiom.2024.105297_bib9","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1007\/s10072-013-1418-5","article-title":"\u201cCADASIL coma\u201d in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation","volume":"34","author":"Ragno","year":"2013","journal-title":"Neurol Sci"},{"issue":"1","key":"10.1016\/j.ebiom.2024.105297_bib10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s10072-013-1580-9","article-title":"Homozygosity and severity of phenotypic presentation in a CADASIL family","volume":"35","author":"Vinciguerra","year":"2014","journal-title":"Neurol Sci"},{"issue":"6","key":"10.1016\/j.ebiom.2024.105297_bib11","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jcma.2013.03.002","article-title":"A\u00a0homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain","volume":"76","author":"Soong","year":"2013","journal-title":"J\u00a0Chin Med Assoc"},{"key":"10.1016\/j.ebiom.2024.105297_bib12","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.jns.2016.05.061","article-title":"Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family","volume":"367","author":"Abou Al-Shaar","year":"2016","journal-title":"J\u00a0Neurol Sci"},{"issue":"1","key":"10.1016\/j.ebiom.2024.105297_bib13","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s12883-020-01660-0","article-title":"Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report","volume":"20","author":"He","year":"2020","journal-title":"BMC Neurol"},{"issue":"2","key":"10.1016\/j.ebiom.2024.105297_bib14","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1055\/a-1739-2722","article-title":"Early-onset vascular leukoencephalopathy caused by Bi-allelic NOTCH3 variants","volume":"53","author":"Stellingwerff","year":"2022","journal-title":"Neuropediatrics"},{"issue":"3","key":"10.1016\/j.ebiom.2024.105297_bib15","first-page":"810","article-title":"A\u00a0NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke","volume":"268","author":"Greisenegger","year":"2021","journal-title":"J\u00a0Neurol"},{"issue":"6","key":"10.1016\/j.ebiom.2024.105297_bib16","doi-asserted-by":"crossref","first-page":"848","DOI":"10.15252\/emmm.201404399","article-title":"Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy","volume":"7","author":"Pippucci","year":"2015","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.ebiom.2024.105297_bib17","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.pediatrneurol.2023.07.007","article-title":"Autosomal recessive NOTCH3-related leukodystrophy in two siblings and review of the literature","volume":"148","author":"Al-Amrani","year":"2023","journal-title":"Pediatr Neurol"},{"issue":"5","key":"10.1016\/j.ebiom.2024.105297_bib18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.ebiom.2024.105297_bib19","doi-asserted-by":"crossref","first-page":"E430","DOI":"10.1212\/WNL.0000000000200744","article-title":"Association of NOTCH3 variant position with stroke onset and other clinical features among patients with CADASIL","volume":"99","author":"Cho","year":"2022","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.ebiom.2024.105297_bib20","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/S1474-4422(09)70127-9","article-title":"Cadasil","volume":"8","author":"Chabriat","year":"2009","journal-title":"Lancet Neurol"},{"issue":"5","key":"10.1016\/j.ebiom.2024.105297_bib21","doi-asserted-by":"crossref","first-page":"e453","DOI":"10.1212\/WNL.0000000000200607","article-title":"Prevalence and predictors of vascular cognitive impairment in patients with CADASIL","volume":"99","author":"Jolly","year":"2022","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ebiom.2024.105297_bib22","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/s41436-018-0088-3","article-title":"The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant","volume":"21","author":"Rutten","year":"2019","journal-title":"Genet Med"},{"issue":"12","key":"10.1016\/j.ebiom.2024.105297_bib23","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1001\/jamaneurol.2022.3832","article-title":"Association of vascular risk factors and genetic factors with penetrance of variants causing monogenic stroke","volume":"79","author":"Cho","year":"2022","journal-title":"JAMA Neurol"},{"issue":"5","key":"10.1016\/j.ebiom.2024.105297_bib24","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1586\/14737159.2014.922880","article-title":"Interpretation of NOTCH3 mutations in the diagnosis of CADASIL","volume":"14","author":"Rutten","year":"2014","journal-title":"Expert Rev Mol Diagn"},{"issue":"9","key":"10.1016\/j.ebiom.2024.105297_bib25","doi-asserted-by":"crossref","first-page":"1964","DOI":"10.3390\/ijms18091964","article-title":"Systematic review of cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL","volume":"18","author":"Mui\u00f1o","year":"2017","journal-title":"Int J Mol Sci"},{"issue":"3","key":"10.1016\/j.ebiom.2024.105297_bib26","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1161\/STROKEAHA.114.007472","article-title":"Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in\u00a0vitro","volume":"46","author":"Wollenweber","year":"2015","journal-title":"Stroke"},{"issue":"2","key":"10.1016\/j.ebiom.2024.105297_bib27","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/ajmg.a.36863","article-title":"Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome","volume":"167","author":"Gripp","year":"2015","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.ebiom.2024.105297_bib28","series-title":"NOTCH3-Related lateral meningocele syndrome summary genetic counseling","first-page":"1","author":"Ejaz","year":"2023"},{"key":"10.1016\/j.ebiom.2024.105297_bib29","first-page":"1","article-title":"Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction","author":"Hack","year":"2022","journal-title":"Brain"},{"issue":"11","key":"10.1016\/j.ebiom.2024.105297_bib30","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1161\/01.STR.0000245084.35575.66","article-title":"Heritability of MRI lesion volume in CADASIL","volume":"37","author":"Opherk","year":"2006","journal-title":"Stroke"},{"issue":"11","key":"10.1016\/j.ebiom.2024.105297_bib31","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1002\/acn3.344","article-title":"Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL","volume":"3","author":"Rutten","year":"2016","journal-title":"Ann Clin Transl Neurol"},{"issue":"13","key":"10.1016\/j.ebiom.2024.105297_bib32","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1212\/WNL.0000000000010525","article-title":"Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank","volume":"95","author":"Rutten","year":"2020","journal-title":"Neurology"},{"issue":"11","key":"10.1016\/j.ebiom.2024.105297_bib33","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1002\/humu.22432","article-title":"Hypomorphic NOTCH3 alleles do not cause CADASIL in humans","volume":"34","author":"Rutten","year":"2013","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.ebiom.2024.105297_bib34","first-page":"1338","article-title":"A\u00a0novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?","volume":"265","author":"Schubert","year":"2018","journal-title":"J\u00a0Neurol"},{"issue":"1","key":"10.1016\/j.ebiom.2024.105297_bib35","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/bies.201000093","article-title":"Pathogenesis of CADASIL","volume":"33","author":"Joutel","year":"2011","journal-title":"Bioessays"},{"issue":"6","key":"10.1016\/j.ebiom.2024.105297_bib36","doi-asserted-by":"crossref","first-page":"2558","DOI":"10.1007\/s12035-021-02282-4","article-title":"CADASIL from bench to bedside: disease models and novel therapeutic approaches","volume":"58","author":"Manini","year":"2021","journal-title":"Mol Neurobiol"},{"issue":"3","key":"10.1016\/j.ebiom.2024.105297_bib37","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/gene.10241","article-title":"Characterization of Notch 3 -deficient mice: normal embryonic development and absence of genetic interactions with a Notch 1 mutation","volume":"37","author":"Krebs","year":"2003","journal-title":"Genesis"},{"issue":"12","key":"10.1016\/j.ebiom.2024.105297_bib38","doi-asserted-by":"crossref","first-page":"2216","DOI":"10.1161\/ATVBAHA.108.171751","article-title":"Notch 3 is a major regulator of vascular tone in cerebral and tail resistance arteries","volume":"28","author":"Belin de Chantem\u00e8le","year":"2008","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.ebiom.2024.105297_bib39","series-title":"Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL","author":"Dupr\u00e9","year":"2024"},{"issue":"1","key":"10.1016\/j.ebiom.2024.105297_bib40","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4103\/1817-1745.205646","article-title":"Neonatal hypoxic-ischemic encephalopathy: a radiological review","volume":"12","author":"Bano","year":"2017","journal-title":"J\u00a0Pediatr Neurosci"},{"issue":"17","key":"10.1016\/j.ebiom.2024.105297_bib41","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1212\/WNL.0000000000003251","article-title":"Cathepsin A\u2013related arteriopathy with strokes and leukoencephalopathy (CARASAL)","volume":"87","author":"Bugiani","year":"2016","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ebiom.2024.105297_bib42","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1161\/STROKEAHA.114.006735","article-title":"Shifting the CARASIL paradigm","volume":"46","author":"Menezes Cordeiro","year":"2015","journal-title":"Stroke"},{"issue":"123456789","key":"10.1016\/j.ebiom.2024.105297_bib43","article-title":"CADASIL brain vessels show a HTRA1 loss\u2013of\u2013function profile","author":"Zellner","year":"2018","journal-title":"Acta Neuropathol"},{"issue":"6","key":"10.1016\/j.ebiom.2024.105297_bib44","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101105","article-title":"Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage","volume":"26","author":"Rutten","year":"2024","journal-title":"Genet Med"},{"issue":"9","key":"10.1016\/j.ebiom.2024.105297_bib45","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1111\/j.1469-8749.2008.03241.x","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male","volume":"51","author":"Granild-Jensen","year":"2009","journal-title":"Dev Med Child Neurol"},{"issue":"5","key":"10.1016\/j.ebiom.2024.105297_bib46","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1177\/0883073810361382","article-title":"Childhood-onset CADASIL: clinical, imaging, and neurocognitive features","volume":"25","author":"Hartley","year":"2010","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.ebiom.2024.105297_bib47","series-title":"Alagille syndrome","author":"Spinner","year":"2024"}],"container-title":["eBioMedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396424003335?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396424003335?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T19:36:57Z","timestamp":1778873817000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352396424003335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":47,"alternative-id":["S2352396424003335"],"URL":"https:\/\/doi.org\/10.1016\/j.ebiom.2024.105297","relation":{},"ISSN":["2352-3964"],"issn-type":[{"value":"2352-3964","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and neuroradiological spectrum of biallelic variants in NOTCH3","name":"articletitle","label":"Article Title"},{"value":"eBioMedicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebiom.2024.105297","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"105297"}}