{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T23:03:13Z","timestamp":1794092593772,"version":"4.8.0"},"reference-count":154,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Advanced Research"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1016\/j.jare.2024.01.001","type":"journal-article","created":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T12:39:36Z","timestamp":1704199176000},"page":"223-235","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":73,"special_numbering":"C","title":["CADASIL: A NOTCH3-associated cerebral small vessel disease"],"prefix":"10.1016","volume":"66","author":[{"given":"Lamei","family":"Yuan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangyu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Jankovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3240-4352","authenticated-orcid":false,"given":"Hao","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jare.2024.01.001_b0005","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/s41582-021-00592-8","article-title":"Genetics of common cerebral small vessel disease","volume":"18","author":"Bordes","year":"2022","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0010","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1016\/S1474-4422(23)00318-6","article-title":"Advancing our knowledge about cerebral small vessel diseases","volume":"22","author":"Gorelick","year":"2023","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0015","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 Clin Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0020","doi-asserted-by":"crossref","first-page":"321","DOI":"10.3389\/fphar.2020.00321","article-title":"Pathophysiological mechanisms and potential therapeutic targets in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)","volume":"11","author":"Locatelli","year":"2020","journal-title":"Front Pharmacol"},{"key":"10.1016\/j.jare.2024.01.001_b0025","doi-asserted-by":"crossref","unstructured":"Mui\u00f1o E, Fern\u00e1ndez-Cadenas I, Arboix A. Contribution of \u201comic\u201d studies to the understanding of Cadasil. A systematic review. Int J Mol Sci 2021;22:7357.","DOI":"10.3390\/ijms22147357"},{"key":"10.1016\/j.jare.2024.01.001_b0030","doi-asserted-by":"crossref","first-page":"e452","DOI":"10.1161\/STR.0000000000000444","article-title":"Management of inherited CNS small vessel diseases: the CADASIL example: a scientific statement from the American Heart Association","volume":"54","author":"Meschia","year":"2023","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0035","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF00691704","article-title":"Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease","volume":"39","author":"Sourander","year":"1977","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jare.2024.01.001_b0040","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1016\/S0140-6736(77)92576-4","article-title":"Chronic familial vascular encephalopathy","volume":"1","author":"Stevens","year":"1977","journal-title":"Lancet"},{"key":"10.1016\/j.jare.2024.01.001_b0045","first-page":"163","article-title":"Famili\u00e4re zerebrale Gef\u00e4berkrankung","volume":"124","author":"Colmant","year":"1980","journal-title":"Zbl Allgemein Pathologie Bd"},{"key":"10.1016\/j.jare.2024.01.001_b0050","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1159\/000116158","article-title":"Hereditary multi-infarct dementia","volume":"27","author":"Sonninen","year":"1987","journal-title":"Eur Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0055","first-page":"376","article-title":"Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case","volume":"147","author":"Davous","year":"1991","journal-title":"Rev Neurol (Paris)"},{"key":"10.1016\/j.jare.2024.01.001_b0060","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1161\/01.STR.22.10.1297","article-title":"Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy","volume":"22","author":"Tournier-Lasserve","year":"1991","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0065","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF02226962","article-title":"Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT scan","volume":"13","author":"Salvi","year":"1992","journal-title":"Ital J Neurol Sci"},{"key":"10.1016\/j.jare.2024.01.001_b0070","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1212\/WNL.42.5.1015","article-title":"A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy","volume":"42","author":"Mas","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0075","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng0393-256","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12","volume":"3","author":"Tournier-Lasserve","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/j.jare.2024.01.001_b0080","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1007\/BF00386260","article-title":"Small arterial granular degeneration in familial Binswanger\u2019s syndrome","volume":"87","author":"Guti\u00e9rrez-Molina","year":"1994","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jare.2024.01.001_b0085","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/383707a0","article-title":"Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia","volume":"383","author":"Joutel","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.jare.2024.01.001_b0090","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"},{"key":"10.1016\/j.jare.2024.01.001_b0095","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1093\/brain\/awv155","article-title":"Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease","volume":"138","author":"Verdura","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.jare.2024.01.001_b0100","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\u20136 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7\u201334 pathogenic variant","volume":"21","author":"Rutten","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.jare.2024.01.001_b0105","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2023.1203985","article-title":"Lifelong cerebrovascular disease burden among CADASIL patients: analysis from a global health research network","volume":"14","author":"Pan","year":"2023","journal-title":"Front Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0110","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000500166","article-title":"Novel and recurring NOTCH3 mutations in two Chinese patients with CADASIL","volume":"19","author":"Chen","year":"2019","journal-title":"Neurodegener Dis"},{"key":"10.1016\/j.jare.2024.01.001_b0115","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3389\/fnagi.2020.00091","article-title":"Clinical and genetic aspects of CADASIL","volume":"12","author":"Mizuno","year":"2020","journal-title":"Front Aging Neurosci"},{"key":"10.1016\/j.jare.2024.01.001_b0120","doi-asserted-by":"crossref","unstructured":"Zhang R, Chen CH, Tezenas Du Montcel S, Lebenberg J, Cheng YW, Dichgans M, et al. The CADA-MRIT: an MRI inventory tool for evaluating cerebral lesions in CADASIL across cohorts. Neurology 2023;101:e1665-77.","DOI":"10.1212\/WNL.0000000000207713"},{"key":"10.1016\/j.jare.2024.01.001_b0125","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1042\/CS20201412","article-title":"Peripheral arteriopathy caused by Notch3 gain-of-function mutation involves ER and oxidative stress and blunting of NO\/sGC\/cGMP pathway","volume":"135","author":"Neves","year":"2021","journal-title":"Clin Sci (Lond)"},{"key":"10.1016\/j.jare.2024.01.001_b0130","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1212\/WNL.0000000000201720","article-title":"Genetic causes of cerebral small vessel diseases: a practical guide for neurologists","volume":"100","author":"Manini","year":"2023","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0135","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"},{"key":"10.1016\/j.jare.2024.01.001_b0140","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"},{"key":"10.1016\/j.jare.2024.01.001_b0145","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1177\/0333102415620909","article-title":"Prevalence and characteristics of migraine in CADASIL","volume":"36","author":"Guey","year":"2016","journal-title":"Cephalalgia"},{"key":"10.1016\/j.jare.2024.01.001_b0150","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1177\/0333102415621055","article-title":"The migraine-stroke connection: a genetic perspective","volume":"36","author":"Malik","year":"2016","journal-title":"Cephalalgia"},{"key":"10.1016\/j.jare.2024.01.001_b0155","article-title":"CADASIL: migraine, encephalopathy, stroke and their inter-relationships","volume":"11","author":"Tan","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.jare.2024.01.001_b0160","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1136\/jnnp.2010.209247","article-title":"NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL","volume":"82","author":"Wang","year":"2011","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.jare.2024.01.001_b0165","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1161\/STROKEAHA.109.568402","article-title":"Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals","volume":"41","author":"Adib-Samii","year":"2010","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0170","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.3390\/genes12121855","article-title":"Monogenic causes of strokes","volume":"12","author":"Chojdak-\u0141ukasiewicz","year":"2021","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.jare.2024.01.001_b0175","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/brain\/awh223","article-title":"The influence of genetic and cardiovascular risk factors on the CADASIL phenotype","volume":"127","author":"Singhal","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.jare.2024.01.001_b0180","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/bpa.12181","article-title":"CADASIL and CARASIL","volume":"24","author":"Tikka","year":"2014","journal-title":"Brain Pathol"},{"key":"10.1016\/j.jare.2024.01.001_b0185","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp.2005.068726","article-title":"Cognitive profile in CADASIL","volume":"77","author":"Buffon","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.jare.2024.01.001_b0190","doi-asserted-by":"crossref","first-page":"199","DOI":"10.31887\/DCNS.2007.9.2\/hchabriat","article-title":"Neuropsychiatric manifestations in CADASIL","volume":"9","author":"Chabriat","year":"2007","journal-title":"Dialogues Clin Neurosci"},{"key":"10.1016\/j.jare.2024.01.001_b0195","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"},{"key":"10.1016\/j.jare.2024.01.001_b0200","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1001\/jamaneurol.2022.3472","article-title":"Frequency and underlying pathology of pure vascular cognitive impairment","volume":"79","author":"Oveisgharan","year":"2022","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0205","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1111\/j.1600-0404.2008.01015.x","article-title":"Psychiatric disturbances in CADASIL: a brief review","volume":"118","author":"Valenti","year":"2008","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.jare.2024.01.001_b0210","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1111\/j.1600-0447.2004.00452.x","article-title":"CADASIL: underdiagnosed in psychiatric patients?","volume":"111","author":"Leyhe","year":"2005","journal-title":"Acta Psychiatr Scand"},{"key":"10.1016\/j.jare.2024.01.001_b0215","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1212\/01.wnl.0000344166.03470.f8","article-title":"Apathy: a major symptom in CADASIL","volume":"72","author":"Reyes","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0220","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1002\/mds.28171","article-title":"Parkinson\u2019s disease, NOTCH3 genetic variants, and white matter hyperintensities","volume":"35","author":"Ramirez","year":"2020","journal-title":"Mov Disord"},{"key":"10.1016\/j.jare.2024.01.001_b0225","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.760164","article-title":"Case report: progressive asymmetric parkinsonism secondary to CADASIL without dementia","volume":"12","author":"Guo","year":"2022","journal-title":"Front Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0230","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S1474-4422(13)70057-7","article-title":"Movement disorders in cerebrovascular disease","volume":"12","author":"Mehanna","year":"2013","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0235","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2021.120011","article-title":"Parkinsonism and cerebrovascular disease","volume":"433","author":"Narasimhan","year":"2022","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jare.2024.01.001_b0240","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1002\/mdc3.13847","article-title":"Chorea associated with genetic-confirmed CADASIL","volume":"10","author":"Kim","year":"2023","journal-title":"Mov Disord Clin Pract"},{"key":"10.1016\/j.jare.2024.01.001_b0245","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1007\/s10072-021-05407-8","article-title":"Dystonia and parkinsonism as presenting CADASIL features: a case report","volume":"42","author":"Spagnolo","year":"2021","journal-title":"Neurol Sci"},{"key":"10.1016\/j.jare.2024.01.001_b0250","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1161\/STROKEAHA.120.030664","article-title":"Intracerebral hemorrhage in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prevalence, clinical and neuroimaging features and risk factors","volume":"52","author":"Liao","year":"2021","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0255","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1161\/STROKEAHA.118.023661","article-title":"Encephalopathy in a large cohort of British cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients","volume":"50","author":"Drazyk","year":"2019","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0260","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1186\/s12883-022-02889-7","article-title":"Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review","volume":"22","author":"Pan","year":"2022","journal-title":"BMC Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0265","doi-asserted-by":"crossref","first-page":"586","DOI":"10.3390\/medicina59030586","article-title":"Management of coronary artery disease in CADASIL patients: review of current literature","volume":"59","author":"Servito","year":"2023","journal-title":"Medicina (Kaunas)"},{"key":"10.1016\/j.jare.2024.01.001_b0270","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1161\/01.STR.0000254530.38417.07","article-title":"Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)","volume":"38","author":"Rufa","year":"2007","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0275","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1161\/01.STR.0000209242.68844.20","article-title":"Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study","volume":"37","author":"Cumurciuc","year":"2006","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0280","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1161\/STROKEAHA.107.506311","article-title":"Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings","volume":"39","author":"Zicari","year":"2008","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0285","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1002\/ana.26337","article-title":"Unilateral leukoencephalopathy revealing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"91","author":"Gollion","year":"2022","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0290","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1161\/STROKEAHA.119.024152","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: lessons from neuroimaging","volume":"51","author":"Jouvent","year":"2020","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0295","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ana.26527","article-title":"CADASIL affects multiple aspects of cerebral small vessel function on 7T-MRI","volume":"93","author":"van den Brink","year":"2023","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0300","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/S1474-4422(23)00131-X","article-title":"Neuroimaging standards for research into small vessel disease-advances since 2013","volume":"22","author":"Duering","year":"2023","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0305","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1186\/s40478-019-0844-x","article-title":"Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL","volume":"7","author":"Rajani","year":"2019","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.jare.2024.01.001_b0310","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/j.1755-5949.2010.00181.x","article-title":"The genetics of white matter lesions","volume":"17","author":"Assareh","year":"2011","journal-title":"CNS Neurosci Ther"},{"key":"10.1016\/j.jare.2024.01.001_b0315","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/bpa.12218","article-title":"White matter changes in dementia: role of impaired drainage of interstitial fluid","volume":"25","author":"Weller","year":"2015","journal-title":"Brain Pathol"},{"key":"10.1016\/j.jare.2024.01.001_b0320","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 Child Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0325","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/mdc3.13412","article-title":"Neuroimaging pearls from the MDS Congress Video Challenge. Part 1: genetic disorders","volume":"9","author":"Olszewska","year":"2022","journal-title":"Mov Disord Clin Pract"},{"key":"10.1016\/j.jare.2024.01.001_b0330","doi-asserted-by":"crossref","first-page":"e138","DOI":"10.1161\/STROKEAHA.122.040938","article-title":"White matter hyperintensities of the corpus callosum are associated with clinical severity in CADASIL","volume":"54","author":"Ouin","year":"2023","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0335","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1590\/0100-3984.2018.0117","article-title":"Differential diagnosis of temporal lobe lesions with hyperintense signal on T2-weighted and FLAIR sequences: pictorial essay","volume":"53","author":"Santana","year":"2020","journal-title":"Radiol Bras"},{"key":"10.1016\/j.jare.2024.01.001_b0340","article-title":"A case of atypical multiple sclerosis mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome","volume":"13","author":"Orhan Varo\u011flu","year":"2021","journal-title":"Cureus"},{"key":"10.1016\/j.jare.2024.01.001_b0345","doi-asserted-by":"crossref","first-page":"526","DOI":"10.3389\/fneur.2018.00526","article-title":"Different types of white matter hyperintensities in CADASIL","volume":"9","author":"Duchesnay","year":"2018","journal-title":"Front Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0350","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.1161\/STROKEAHA.108.528299","article-title":"Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL","volume":"40","author":"Yamamoto","year":"2009","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0355","doi-asserted-by":"crossref","first-page":"2921","DOI":"10.1161\/STROKEAHA.108.523795","article-title":"What is a lacune?","volume":"39","author":"Wardlaw","year":"2008","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0360","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/S1474-4422(13)70060-7","article-title":"Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging","volume":"12","author":"Wardlaw","year":"2013","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0365","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1016\/S1474-4422(13)70124-8","article-title":"Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration","volume":"12","author":"Wardlaw","year":"2013","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0370","doi-asserted-by":"crossref","first-page":"2384","DOI":"10.1161\/01.STR.0000185678.26296.38","article-title":"Shape and volume of lacunar infarcts: a 3D MRI study in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"36","author":"Herv\u00e9","year":"2005","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0375","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1093\/brain\/awt184","article-title":"Incident lacunes preferentially localize to the edge of white matter hyperintensities: insights into the pathophysiology of cerebral small vessel disease","volume":"136","author":"Duering","year":"2013","journal-title":"Brain"},{"issue":"Suppl 2","key":"10.1016\/j.jare.2024.01.001_b0380","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s00062-015-0458-z","article-title":"Imaging of cerebral microbleeds","volume":"25","author":"Linn","year":"2015","journal-title":"Clin Neuroradiol"},{"key":"10.1016\/j.jare.2024.01.001_b0385","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0190878","article-title":"Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients","volume":"13","author":"Nannucci","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.jare.2024.01.001_b0390","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S1474-4422(09)70013-4","article-title":"Cerebral microbleeds: a guide to detection and interpretation","volume":"8","author":"Greenberg","year":"2009","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0395","doi-asserted-by":"crossref","first-page":"H1128","DOI":"10.1152\/ajpheart.00780.2016","article-title":"Cerebral microhemorrhages: mechanisms, consequences, and prevention","volume":"312","author":"Ungvari","year":"2017","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.jare.2024.01.001_b0400","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1007\/s00330-021-08288-9","article-title":"Spatial distribution of cerebral microbleeds reveals heterogeneous pathogenesis in CADASIL","volume":"32","author":"Chen","year":"2022","journal-title":"Eur Radiol"},{"key":"10.1016\/j.jare.2024.01.001_b0405","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1212\/01.wnl.0000339038.65508.96","article-title":"MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study","volume":"72","author":"Liem","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0410","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1161\/STROKEAHA.106.478263","article-title":"Brain atrophy is related to lacunar lesions and tissue microstructural changes in CADASIL","volume":"38","author":"Jouvent","year":"2007","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0415","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1159\/000356982","article-title":"Dilated perivascular spaces in small-vessel disease: a study in CADASIL","volume":"37","author":"Yao","year":"2014","journal-title":"Cerebrovasc Dis"},{"key":"10.1016\/j.jare.2024.01.001_b0420","doi-asserted-by":"crossref","DOI":"10.1016\/j.clineuro.2022.107244","article-title":"Prevalence of clinical manifestations and neuroimaging features in cerebral small vessel disease","volume":"217","author":"Gez","year":"2022","journal-title":"Clin Neurol Neurosurg"},{"key":"10.1016\/j.jare.2024.01.001_b0425","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1046\/j.1440-1789.2003.00519.x","article-title":"Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)","volume":"23","author":"Arima","year":"2003","journal-title":"Neuropathology"},{"key":"10.1016\/j.jare.2024.01.001_b0430","doi-asserted-by":"crossref","first-page":"2690","DOI":"10.1161\/01.STR.0000245091.28429.6a","article-title":"Cortical neuronal apoptosis in CADASIL","volume":"37","author":"Viswanathan","year":"2006","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0435","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0022-510X(03)00109-6","article-title":"Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis","volume":"212","author":"Santa","year":"2003","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jare.2024.01.001_b0440","doi-asserted-by":"crossref","first-page":"323","DOI":"10.5114\/pjp.2015.54966","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) \u2013 literature review apropos an autopsy case","volume":"66","author":"Weso\u0142owski","year":"2015","journal-title":"Pol J Pathol"},{"key":"10.1016\/j.jare.2024.01.001_b0445","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.131344","article-title":"ER stress and Rho kinase activation underlie the vasculopathy of CADASIL","volume":"4","author":"Neves","year":"2019","journal-title":"JCI Insight"},{"key":"10.1016\/j.jare.2024.01.001_b0450","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1172\/JCI8047","article-title":"The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients","volume":"105","author":"Joutel","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jare.2024.01.001_b0455","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1212\/01.wnl.0000264018.46335.c8","article-title":"Diagnostic value of ultrastructural skin biopsy studies in CADASIL","volume":"68","author":"Malandrini","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0460","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1002\/ana.25367","article-title":"Biallelic COLGALT1 variants are associated with cerebral small vessel disease","volume":"84","author":"Miyatake","year":"2018","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0465","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1111\/j.1440-1789.2011.01290.x","article-title":"Pericytes as a new target for pathological processes in CADASIL","volume":"32","author":"Dziewulska","year":"2012","journal-title":"Neuropathology"},{"key":"10.1016\/j.jare.2024.01.001_b0470","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.pbiomolbio.2007.07.006","article-title":"An overview of Notch3 function in vascular smooth muscle cells","volume":"96","author":"Wang","year":"2008","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1016\/j.jare.2024.01.001_b0475","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1242\/dev.096107","article-title":"Notch3 establishes brain vascular integrity by regulating pericyte number","volume":"141","author":"Wang","year":"2014","journal-title":"Development"},{"key":"10.1016\/j.jare.2024.01.001_b0480","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1093\/brain\/aww011","article-title":"Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept","volume":"139","author":"Rutten","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.jare.2024.01.001_b0485","doi-asserted-by":"crossref","first-page":"e12751","DOI":"10.1111\/nan.12751","article-title":"NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature","volume":"48","author":"Gravesteijn","year":"2022","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.jare.2024.01.001_b0490","doi-asserted-by":"crossref","first-page":"2913","DOI":"10.1093\/brain\/awac486","article-title":"Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction","volume":"146","author":"Hack","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.jare.2024.01.001_b0495","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2023.104838","article-title":"Structural changes in NOTCH3 induced by CADASIL mutations: role of cysteine and non-cysteine alterations","volume":"299","author":"Lee","year":"2023","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jare.2024.01.001_b0500","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1093\/brain\/awt092","article-title":"Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL","volume":"136","author":"Monet-Lepr\u00eatre","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.jare.2024.01.001_b0505","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s40478-014-0096-8","article-title":"Sequestration of latent TGF-\u03b2 binding protein 1 into CADASIL-related Notch3-ECD deposits","volume":"2","author":"Kast","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.jare.2024.01.001_b0510","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/bies.201000093","article-title":"Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature","volume":"33","author":"Joutel","year":"2011","journal-title":"Bioessays"},{"key":"10.1016\/j.jare.2024.01.001_b0515","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/ana.24573","article-title":"Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice","volume":"79","author":"Capone","year":"2016","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0520","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.17536","article-title":"Mechanistic insights into a TIMP3-sensitive pathway constitutively engaged in the regulation of cerebral hemodynamics","volume":"5","author":"Capone","year":"2016","journal-title":"Elife"},{"key":"10.1016\/j.jare.2024.01.001_b0525","doi-asserted-by":"crossref","first-page":"E796","DOI":"10.1073\/pnas.1420765112","article-title":"Potassium channelopathy-like defect underlies early-stage cerebrovascular dysfunction in a genetic model of small vessel disease","volume":"112","author":"Dabertrand","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jare.2024.01.001_b0530","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1086\/381506","article-title":"Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP\/JK signaling pathway","volume":"74","author":"Joutel","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jare.2024.01.001_b0535","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.yexcr.2004.06.004","article-title":"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk","volume":"299","author":"Peters","year":"2004","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.jare.2024.01.001_b0540","doi-asserted-by":"crossref","first-page":"E128","DOI":"10.1073\/pnas.1101964108","article-title":"Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease","volume":"108","author":"Arboleda-Velasquez","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jare.2024.01.001_b0545","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1093\/hmg\/ddm042","article-title":"The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo","volume":"16","author":"Monet","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jare.2024.01.001_b0550","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1093\/brain\/awp049","article-title":"Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain","volume":"132","author":"Monet-Lepr\u00eatre","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jare.2024.01.001_b0555","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1161\/HYPERTENSIONAHA.116.08015","article-title":"Increased Notch3 activity mediates pathological changes in structure of cerebral arteries","volume":"69","author":"Baron-Menguy","year":"2017","journal-title":"Hypertension"},{"key":"10.1016\/j.jare.2024.01.001_b0560","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1161\/STROKEAHA.118.021560","article-title":"Role of NOTCH3 mutations in the cerebral small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"49","author":"Coupland","year":"2018","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0565","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/humu.9527","article-title":"Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain","volume":"29","author":"Fouillade","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jare.2024.01.001_b0570","doi-asserted-by":"crossref","first-page":"547.e5","DOI":"10.1016\/j.neurobiolaging.2014.08.021","article-title":"Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features","volume":"36","author":"Moccia","year":"2015","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.jare.2024.01.001_b0575","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"},{"key":"10.1016\/j.jare.2024.01.001_b0580","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"},{"key":"10.1016\/j.jare.2024.01.001_b0585","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.jare.2024.01.001_b0590","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1161\/ATVBAHA.114.304849","article-title":"Notch3 is necessary for blood vessel integrity in the central nervous system","volume":"35","author":"Henshall","year":"2015","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jare.2024.01.001_b0595","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/s10194-016-0646-5","article-title":"The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China","volume":"17","author":"He","year":"2016","journal-title":"J Headache Pain"},{"key":"10.1016\/j.jare.2024.01.001_b0600","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/ane.12284","article-title":"Clinical, familial, and neuroimaging features of CADASIL-like patients","volume":"131","author":"Nannucci","year":"2015","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.jare.2024.01.001_b0605","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/ajmg.c.31574","article-title":"Phenotypes, pleiotropy, and phylogeny","volume":"175","author":"Opitz","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.jare.2024.01.001_b0610","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":"167A","author":"Gripp","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jare.2024.01.001_b0615","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/s00381-021-05232-6","article-title":"Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis","volume":"38","author":"Yamada","year":"2022","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.jare.2024.01.001_b0620","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.ajhg.2013.04.024","article-title":"Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis","volume":"92","author":"Martignetti","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jare.2024.01.001_b0625","doi-asserted-by":"crossref","DOI":"10.1016\/j.modpat.2022.100070","article-title":"PDGFRB and NOTCH3 mutations are detectable in a wider range of pericytic tumors, including myopericytomas, angioleiomyomas, glomus tumors, and their combined tumors","volume":"36","author":"Iwamura","year":"2023","journal-title":"Mod Pathol"},{"key":"10.1016\/j.jare.2024.01.001_b0630","doi-asserted-by":"crossref","DOI":"10.1002\/jcla.24174","article-title":"A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease","volume":"36","author":"Cao","year":"2022","journal-title":"J Clin Lab Anal"},{"key":"10.1016\/j.jare.2024.01.001_b0635","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1161\/STROKEAHA.118.021283","article-title":"Characterization of heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease","volume":"49","author":"Lee","year":"2018","journal-title":"Stroke"},{"key":"10.1016\/j.jare.2024.01.001_b0640","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1111\/cns.12722","article-title":"Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease","volume":"23","author":"Di Donato","year":"2017","journal-title":"CNS Neurosci Ther"},{"key":"10.1016\/j.jare.2024.01.001_b0645","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1111\/neup.12473","article-title":"Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation","volume":"38","author":"Ito","year":"2018","journal-title":"Neuropathology"},{"key":"10.1016\/j.jare.2024.01.001_b0650","doi-asserted-by":"crossref","first-page":"1964","DOI":"10.1212\/WNL.0000000000002694","article-title":"Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL","volume":"86","author":"Nozaki","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0655","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.jns.2018.02.043","article-title":"Cerebral small vessel disease caused by a novel heterozygous mutation in HTRA1","volume":"388","author":"Thaler","year":"2018","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jare.2024.01.001_b0660","doi-asserted-by":"crossref","DOI":"10.1016\/j.jstrokecerebrovasdis.2021.106029","article-title":"Two unique mutations in HTRA1-related cerebral small vessel disease in North America and Africa and literature review","volume":"30","author":"Shang","year":"2021","journal-title":"J Stroke Cerebrovasc Dis"},{"key":"10.1016\/j.jare.2024.01.001_b0665","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mrrev.2016.02.003","article-title":"Molecular genetics of the COL2A1-related disorders","volume":"768","author":"Deng","year":"2016","journal-title":"Mutat Res Rev Mutat Res"},{"key":"10.1016\/j.jare.2024.01.001_b0670","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00401-018-1853-8","article-title":"CADASIL brain vessels show a HTRA1 loss-of-function profile","volume":"136","author":"Zellner","year":"2018","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jare.2024.01.001_b0675","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1212\/WNL.0000000000003251","article-title":"Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)","volume":"87","author":"Bugiani","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0680","doi-asserted-by":"crossref","first-page":"2283","DOI":"10.1212\/WNL.0b013e3182768954","article-title":"A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13","volume":"79","author":"Herv\u00e9","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0685","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000165","article-title":"Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathy","volume":"3","author":"Hwang","year":"2017","journal-title":"Neurol Genet"},{"key":"10.1016\/j.jare.2024.01.001_b0690","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s13760-019-01158-8","article-title":"Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)","volume":"119","author":"Finsterer","year":"2019","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.jare.2024.01.001_b0695","doi-asserted-by":"crossref","first-page":"6673","DOI":"10.1007\/s00415-022-11302-9","article-title":"A rare cause of monogenic cerebral small vessel disease and stroke: cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)","volume":"269","author":"Budhdeo","year":"2022","journal-title":"J Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0700","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/nan.12472","article-title":"Vascular dementia: clinicopathologic and genetic considerations","volume":"44","author":"Vinters","year":"2018","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.jare.2024.01.001_b0705","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1212\/WNL.0000000000003271","article-title":"CADASIL, CARASIL, CARASAL: the linguistic subtleties of cerebral small vessel disease","volume":"87","author":"Haffner","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.jare.2024.01.001_b0710","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"},{"key":"10.1016\/j.jare.2024.01.001_b0715","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s13167-023-00314-8","article-title":"Diabetic retinopathy as the leading cause of blindness and early predictor of cascading complications-risks and mitigation","volume":"14","author":"Kropp","year":"2023","journal-title":"EPMA J"},{"key":"10.1016\/j.jare.2024.01.001_b0720","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s13167-021-00263-0","article-title":"Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person","volume":"12","author":"Koklesova","year":"2021","journal-title":"EPMA J"},{"key":"10.1016\/j.jare.2024.01.001_b0725","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.220004","article-title":"Notch signalling in healthy and diseased vasculature","volume":"12","author":"Del Gaudio","year":"2022","journal-title":"Open Biol"},{"key":"10.1016\/j.jare.2024.01.001_b0730","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1038\/jcbfm.2012.123","article-title":"CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells","volume":"32","author":"Tikka","year":"2012","journal-title":"J Cereb Blood Flow Metab"},{"key":"10.1016\/j.jare.2024.01.001_b0735","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202216556","article-title":"Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model","volume":"15","author":"Oliveira","year":"2023","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.jare.2024.01.001_b0740","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1097\/MOH.0000000000000497","article-title":"CADASIL: new advances in basic science and clinical perspectives","volume":"26","author":"Ferrante","year":"2019","journal-title":"Curr Opin Hematol"},{"key":"10.1016\/j.jare.2024.01.001_b0745","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1111\/ene.14293","article-title":"CADASIL: yesterday, today, tomorrow","volume":"27","author":"Chabriat","year":"2020","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.jare.2024.01.001_b0750","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/s41392-021-00736-8","article-title":"Human genetic basis of coronavirus disease 2019","volume":"6","author":"Deng","year":"2021","journal-title":"Signal Transduct Target Ther"},{"key":"10.1016\/j.jare.2024.01.001_b0755","doi-asserted-by":"crossref","DOI":"10.1016\/j.arr.2023.101957","article-title":"The role of the PLA2G6 gene in neurodegenerative diseases","volume":"89","author":"Deng","year":"2023","journal-title":"Ageing Res Rev"},{"key":"10.1016\/j.jare.2024.01.001_b0760","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1093\/qjmed\/hcad010","article-title":"Analysis of SOD1 variants in Chinese patients with familial amyotrophic lateral sclerosis","volume":"116","author":"Li","year":"2023","journal-title":"QJM"},{"key":"10.1016\/j.jare.2024.01.001_b0765","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s13167-021-00248-z","article-title":"Endothelin-1 axes in the framework of predictive, preventive and personalised (3P) medicine","volume":"12","author":"Torres Crigna","year":"2021","journal-title":"EPMA J"},{"key":"10.1016\/j.jare.2024.01.001_b0770","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s13167-022-00307-z","article-title":"Ischemic stroke of unclear aetiology: a case-by-case analysis and call for a multi-professional predictive, preventive and personalised approach","volume":"13","author":"Golubnitschaja","year":"2022","journal-title":"EPMA J"}],"container-title":["Journal of Advanced Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2090123224000018?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2090123224000018?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T06:10:07Z","timestamp":1733811007000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2090123224000018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":154,"alternative-id":["S2090123224000018"],"URL":"https:\/\/doi.org\/10.1016\/j.jare.2024.01.001","relation":{},"ISSN":["2090-1232"],"issn-type":[{"value":"2090-1232","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"CADASIL: A NOTCH3-associated cerebral small vessel disease","name":"articletitle","label":"Article Title"},{"value":"Journal of Advanced Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jare.2024.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier B.V. on behalf of Cairo University","name":"copyright","label":"Copyright"}]}}