Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 30 (of 105 Records) |
| Query Trace: Cadasil[original query] |
|---|
| Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease. Molecular neurobiology 2022 Sep . Dunn Paul J, Lea Rodney A, Maksemous Neven, Smith Robert A, Sutherland Heidi G, Haupt Larisa M, Griffiths Lyn |
| Effects of different regional cerebral blood flow on white matter hyperintensity in CADASIL patients. Journal of biomedical research 2022 9 36 (5): 368-374. Wang Runrun, Zhang Jiewen, Shang Junkui, Wang Fengyu, Yan |
| Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta neurologica Scandinavica 2022 9 146 (5): 643-651. Mönkäre Saana, Kuuluvainen Liina, Schleutker Johanna, Myllykangas Liisa, Pöyhönen Min |
| Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes. Stroke 2022 7 53 (10): 3133-3144. Hack Remco J, Cerfontaine Minne N, Gravesteijn Gido, Tap Stephan, Hafkemeijer Anne, van der Grond Jeroen, Witjes-Ané Marie-Noëlle, Baas Frank, Rutten Julie W, Lesnik Oberstein Saskia A |
| Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations. CNS neuroscience & therapeutics 2022 7 28 (11): 1779-1789. Ni Wang, Zhang Yi, Zhang Liang, Xie Juan-Juan, Li Hong-Fu, Wu Zhi-Yi |
| Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL. Frontiers in neurology 2022 7 13 881528. Ueda Akihiko, Nakajima Makoto, Misumi Yohei, Nakahara Keiichi, Shinriki Satoru, Tasaki Masayoshi, Matsui Hirotaka, Ueda Mitsuha |
| Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL. Neurology 2022 5 99 (5): e430-9. Cho Bernard P H, Jolly Amy A, Nannoni Stefania, Tozer Daniel, Bell Steven, Markus Hugh |
| 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 |
| Prevalence and Predictors of Vascular Cognitive Impairment in Patients With CADASIL. Neurology 2022 5 99 (5): e453-61. Jolly Amy A, Nannoni Stefania, Edwards Hayley, Morris Robin G, Markus Hugh |
| Association between NOTCH3 gene and Parkinson's disease based on whole-exome sequencing. Frontiers in aging neuroscience 2022 12 14 995330. Zeng Qian, Pan Hongxu, Zhao Yuwen, Wang Yige, Xu Qian, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jife |
| Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction. Brain : a journal of neurology 2022 12 . Hack Remco J, Gravesteijn Gido, Cerfontaine Minne N, Santcroos Mark A, Gatti Laura, Kopczak Anna, Bersano Anna, Duering Marco, Rutten Julie W, Lesnik Oberstein Saskia A |
| Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants. Journal of neurology 2022 11 . Härtl Johanna, Hartberger Julia, Wunderlich Silke, Cordts Isabell, Bafligil Cemsel, Sturm Marc, , Westphal Dominik, Haack Tobias, Hemmer Bernhard, Ikenberg Benno David, Deschauer Marc |
| Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia. Neurogenetics 2022 11 24 (1): 1-16. Juhosová M, Chandoga J, Cisárik F, Dallemule S, ?urina P, Jarásková D, Jungová P, Kantarská D, Kvasnicová M, Mistrík M, Pastoráková A, Petrovi? R, Valachová A, Zelinková H, Barošová J, Böhmer D, Štofko |
| Genotype and Phenotype Differences in CADASIL from an Asian Perspective. International journal of molecular sciences 2022 10 23 (19): . Kim Yerim, Bae Jong Seok, Lee Ju-Young, Song Hong Ki, Lee Ju-Hun, Lee Minwoo, Kim Chulho, Lee Sang-H |
| Elderly CADASIL patients with intact neurological status. Journal of stroke 2022 Sep 24 (3): 352-362. Zhang Ruiting, Ouin Elisa, Grosset Lina, Ighilkrim Karine, Lebenberg Jessica, Guey Stéphanie, François Véronique, Tournier-Lasserve Elisabeth, Jouvent Eric, Chabriat Hugu |
| Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation. Frontiers in neurology 2023 9 14 1241678. Jun Takei, Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Jun-Hui Yuan, Natsumi Fujisaki, Takashi Tokashiki, Naomi Kanzato, Manabu Jonosono, Takeshi Sueyoshi, Naoaki Kanda, Hideki Matsuoka, Ryuichi Okubo, Masahito Suehara, Eiji Matsuura, Hiroshi Takashi |
| [Neuroimaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Korean Based on Jeju Cohort: A Pictorial Essay]. Journal of the Korean Society of Radiology 2023 8 84 (4): 855-865. Yeh Rin Suh, Ho Kyu Lee, Kyeong Ho Jung, Jung Seok Lee, Jay Chol Ch |
| The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank. Journal of neurology 2023 8 . Eugene Lin, Po-Hsiu Kuo, Yu-Li Liu, Tso-Jen Wang, Albert C Yang, Shih-Jen Ts |
| Modifiable Vascular Risk Factors Contribute to Stroke in 1,080 NOTCH3 R544C Carriers in Taiwan Biobank. International journal of stroke : official journal of the International Stroke Society 2023 7 17474930231191991. Hung-Jen Lin, Chih-Hao Chen, Ming-Wei Su, Chien-Wei Lin, Yu-Wen Cheng, Sung-Chun Tang, Jiann-Shing Je |
| The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay. Cell discovery 2023 7 9 (1): 75. Si Cheng, Zhe Xu, Shengzhe Bian, Xi Chen, Yanfeng Shi, Yanran Li, Yunyun Duan, Yang Liu, Jinxi Lin, Yong Jiang, Jing Jing, Zixiao Li, Yilong Wang, Xia Meng, Yaou Liu, Mingyan Fang, Xin Jin, Xun Xu, Jian Wang, Chaolong Wang, Hao Li, Siyang Liu, Yongjun Wa |
| Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients. Arquivos de neuro-psiquiatria 2023 5 . Renata Nogueira, Christian Marques Couto, Pérola de Oliveira, Bernardo José Alves Ferreira Martins, Vinícius Viana Abreu Montana |
| NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. Stroke 2023 3 . Liao Yi-Chu, Wei Cheng-Yu, Chang Fu-Pang, Chou Ying-Tsen, Hsu Shao-Lun, Chung Chih-Ping, Mizuguchi Takeshi, Matsumoto Naomichi, Yet Shaw-Fang, Lee Yi-Chu |
| Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants. Journal of the American Heart Association 2023 11 e032689. Yu-Wen Cheng, Yi-Chu Liao, Chih-Hao Chen, Chih-Ping Chung, Cathy S J Fann, Chien-Ching Chang, Yi-Chung Lee, Sung-Chun Ta |
| NOTCH3 Variants in Patients with Suspected CADASIL. Annals of Indian Academy of Neurology 2023 11 26 (4): 484-490. Orhan Gorukmez, Ozlem Gorukmez, Ali Topak, Meral Seferoglu, Ali O Sivaci, Asuman Ali, Nermin Tepe, Sibel C Kabay, Ozlem Taskap?l?og |
| Broadening the Genetic Horizons of CADASIL: New Variants of the NOTCH3 Gene Revealed and their Association with CADASIL. Annals of Indian Academy of Neurology 2023 11 26 (4): 356-358. Biswamohan Mishra, Deepti Vibha, Manjari Tripat |
| Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. Journal of clinical neurology (Seoul, Korea) 2023 1 19 (1): 12-27. Yamamoto Yumi, Liao Yi-Chu, Lee Yi-Chung, Ihara Masafumi, Choi Jay Ch |
| Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review. Cerebral circulation - cognition and behavior 2024 7 6 100227. Georgina Boston, Dan Jobson, Toshiki Mizuno, Masafumi Ihara, Raj N Kalar |
| The Roles of NOTCH3 p.R544C and Thrombophilia Genes in Vietnamese Patients With Ischemic Stroke: Study Involving a Hierarchical Cluster Analysis. JMIR bioinformatics and biotechnology 2024 6 5 e56884. Huong Thi Thu Bui, Qu?nh Nguy?n Th? Ph??ng, Ho Cam Tu, Sinh Nguyen Phuong, Thuy Thi Pham, Thu Vu, Huyen Nguyen Thi Thu, Lam Khanh Ho, Dung Nguyen Ti |
| Input of exome sequencing in early-onset cerebral amyloid angiopathy. Alzheimer's & dementia (Amsterdam, Netherlands) 2024 11 16 (4): e70027. Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Claire Richard, Olivier Quenez, Aline Zarea, Anne Boland, Robert Olaso, Jean-François Deleuze, , Elisabeth Tournier-Lasserve, Gael Nicolas, David Wall |
| White Matter Hyperintensities and Cognitive Functions in People With the R544C Variant of the NOTCH3 Gene Without Stroke or Dementia. Neurology 2024 10 103 (9): e209941. Hsin Tung, Chien-Chih Chou, Hsian-Min Chen, Yi-Ming Chen, Yi-Ying Wu, Jyh-Wen Chai, Jun-Peng Chen, Shu-Chun Chen, Hung-Chieh Chen, Wei-Ju L |
- Page last reviewed:Feb 1, 2024
- Content source: