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| Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). PloS one 2022 17 (5): e0268572. Lin Chao-Wen, Yang Zih-Wei, Chen Chih-Hao, Cheng Yu-Wen, Tang Sung-Chun, Jeng Jiann-Shi |
| Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study. Neurogenetics 2021 Nov . Min Ji-You, Park Seo-Jin, Kang Eun-Joo, Hwang Seung-Yong, Han Sung-H |
| Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study. Journal of the neurological sciences 2020 Oct 419 117178. Ospina Carolina, Arboleda-Velasquez Joseph F, Aguirre-Acevedo Daniel Camilo, Zuluaga-Castaño Yesica, Velilla Lina, Garcia Gloria P, Quiroz Yakeel T, Lopera Francis |
| Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL. Neuro-degenerative diseases 2019 Jun 1-8. Chen Xiangyu, Deng Sheng, Xu Hongbo, Hou Deren, Hu Pengzhi, Yang Yan, Wen Jie, Deng Hao, Yuan Lam |
| Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry. JAMA network open 2019 Mar 2 (3): e191350. Patel Devanshi, Mez Jesse, Vardarajan Badri N, Staley Lyndsay, Chung Jaeyoon, Zhang Xiaoling, Farrell John J, Rynkiewicz Michael J, Cannon-Albright Lisa A, Teerlink Craig C, Stevens Jeffery, Corcoran Christopher, Gonzalez Murcia Josue D, Lopez Oscar L, Mayeux Richard, Haines Jonathan L, Pericak-Vance Margaret A, Schellenberg Gerard, Kauwe John S K, Lunetta Kathryn L, Farrer Lindsay A, |
| 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. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Rutten Julie W, Van Eijsden Bastian J, Duering Marco, Jouvent Eric, Opherk Christian, Pantoni Leonardo, Federico Antonio, Dichgans Martin, Markus Hugh S, Chabriat Hugues, Lesnik Oberstein Saskia A |
| Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel. Clinical genetics 2018 Apr . Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka |
| RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis. Journal of human genetics 2018 Mar . Yeung Wing Tung Esther, Mizuta Ikuko, Watanabe-Hosomi Akiko, Yokote Akiyoshi, Koizumi Takashi, Mukai Mao, Kinoshita Masako, Ohara Tomoyuki, Mizuno Toshi |
| Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Annals of clinical and translational neurology 2016 Nov 3 (11): 844-853. Rutten Julie W, Dauwerse Hans G, Gravesteijn Gido, van Belzen Martine J, van der Grond Jeroen, Polke James M, Bernal-Quiros Manuel, Lesnik Oberstein Saskia A |
| Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016 Feb . Ragno Michele, Sanguigni Sandro, Manca Antonio, Pianese Luigi, Paci Cristina, Berbellini Alfonso, Cozzolino Valeria, Gobbato Roberto, Peluso Silvio, De Michele Giusep |
| Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. Journal of neurology 2015 Aug 262 (8): 1828-36. Ueda Akihiko, Ueda Mitsuharu, Nagatoshi Akihito, Hirano Teruyuki, Ito Takaaki, Arai Nobutaka, Uyama Eiichiro, Mori Kota, Nakamura Masaaki, Shinriki Satoru, Ikeda Katsuyoshi, Ando Yuk |
| A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients. Journal of molecular neuroscience : MN 2015 Jul 56 (3): 613-6. Fernández Angela, Gómez Juan, Alonso Belén, Iglesias Sara, Coto Eliec |
| The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations. Journal of the neurological sciences 2015 Jul 354 (1-2): 63-9. Liu Xiao, Zuo Yuehuan, Sun Wei, Zhang Wei, Lv He, Huang Yining, Xiao Jiangxi, Yuan Yun, Wang Zhaox |
| APOE and AGT in the Finnish p.Arg133Cys CADASIL population. Acta neurologica Scandinavica 2015 Mar . Siitonen M, Mykkänen K, Pescini F, Rovio S, Kääriäinen H, Baumann M, Pöyhönen M, Viitanen |
| CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. Journal of neurology 2015 Jan 262 (1): 134-41. Bianchi Silvia, Zicari Enza, Carluccio Alessandra, Di Donato Ilaria, Pescini Francesca, Nannucci Serena, Valenti Raffaella, Ragno Michele, Inzitari Domenico, Pantoni Leonardo, Federico Antonio, Dotti Maria Tere |
| Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. PloS one 2015 10 (8): e0136501. Liao Yi-Chu, Hsiao Cheng-Tsung, Fuh Jong-Ling, Chern Chang-Ming, Lee Wei-Ju, Guo Yuh-Cherng, Wang Shuu-Jiun, Lee I-Hui, Liu Yo-Tsen, Wang Yen-Feng, Chang Feng-Chi, Chang Ming-Hung, Soong Bing-Wen, Lee Yi-Chu |
| Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. PloS one 2015 10 (8): e0136352. Kilarski Laura L, Rutten-Jacobs Loes C A, Bevan Steve, Baker Rob, Hassan Ahamad, Hughes Derralynn A, Markus Hugh S, |
| Clinical and radiological features in CADASIL and NOTCH3-negative patients: a multicenter study from Turkey. European neurology 2014 72 (3-4): 125-31. Ince Birsen, Benbir Gulcin, Siva Aksel, Saip Sabahattin, Utku Ufuk, Celik Yahya, Necioglu-Orken Dilek, Ozturk Serefnur, Afsar Nazire, Aktan Sevinc, Asil Talip, Bakac Goksel, Ekmekci Hakan, Gokce Mustafa, Krespi Yakup, Midi Ipek, Varlibas Figen, Citci-Yalcinkaya Beyza, Goksan Baki, Uluduz Derya, Uyguner O |
| Cognitive profile of CADASIL patients with R544C Notch3 mutation. European neurology 2014 71 (5-6): 217-22. Song Jung-Kook, Noh Young Ook, Lee Jung Se |
| Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2013 Jul 22 (5): 608-14. Choi Jay Chol, Lee Keun-Hwa, Song Sook-Keun, Lee Jung Seok, Kang Sa-Yoon, Kang Ji-Ho |
| A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. Journal of the Chinese Medical Association : JCMA 2013 Jun 76 (6): 319-24. Soong Bing-Wen, Liao Yi-Chu, Tu Pang-Hsien, Tsai Pei-Chien, Lee I-Hui, Chung Chih-Ping, Lee Yi-Chu |
| NOTCH3 variants and risk of ischemic stroke. PloS one 2013 8 (9): e75035. Ross Owen A, Soto-Ortolaza Alexandra I, Heckman Michael G, Verbeeck Christophe, Serie Daniel J, Rayaprolu Sruti, Rich Stephen S, Nalls Michael A, Singleton Andrew, Guerreiro Rita, Kinsella Emma, Wszolek Zbigniew K, Brott Thomas G, Brown Robert D, Worrall Bradford B, Meschia James |
| Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients. PloS one 2013 8 (6): e65482. Morroni Manrico, Marzioni Daniela, Ragno Michele, Di Bella Paolo, Cartechini Elisabetta, Pianese Luigi, Lorenzi Teresa, Castellucci Mario, Scarpelli Mari |
| 7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL. Journal of neurology, neurosurgery, and psychiatry 2012 Dec 83 (12): 1180-5. Liem Michael K, Lesnik Oberstein Saskia A J, Versluis Maarten J, Maat-Schieman Marion L C, Haan Joost, Webb Andrew G, Ferrari Michel D, van Buchem Mark A, van der Grond Jero |
| The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis. Stroke; a journal of cerebral circulation 2012 Nov 43 (11): 2871-6. Pescini Francesca, Nannucci Serena, Bertaccini Bruno, Salvadori Emilia, Bianchi Silvia, Ragno Michele, Sarti Cristina, Valenti Raffaella, Zicari Enza, Moretti Marco, Chiti Stefano, Stromillo Maria Laura, De Stefano Nicola, Dotti Maria Teresa, Federico Antonio, Inzitari Domenico, Pantoni Leonar |
| Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Journal of the neurological sciences 2012 Aug 319 (1-2): 37-41. Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi G |
| Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiology of aging 2012 May 33 (5): 1008.e17-23. Guerreiro Rita João, Lohmann Ebba, Kinsella Emma, Brás José Miguel, Luu Nga, Gurunlian Nicole, Dursun Burcu, Bilgic Basar, Santana Isabel, Hanagasi Hasmet, Gurvit Hakan, Gibbs Jesse Raphael, Oliveira Catarina, Emre Murat, Singleton Andr |
| Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke; a journal of cerebral circulation 2010 Apr 41 (4): 630-4. Adib-Samii Poneh, Brice Glen, Martin Roswell J, Markus Hugh |
| Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. Journal of neurology 2009 Feb 256 (2): 249-55. Lee Yi-Chung, Liu Chin-San, Chang Ming-Hong, Lin Kon-Ping, Fuh Jong-Ling, Lu Yi-Chu, Liu Ya-Fen, Soong Bing-W |
| [Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. Revista de neurologia 0 49 (10): 520-3. Luna-Maldonado E, Aguirre-Acevedo D C, García-Ospina G P, Lopera |
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- Page last updated:Jul 06, 2022
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