HuGE Literature Finder
Records
1
-
30
| Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases. BMC medical genomics 2022 2 15 (1): 26. Tarozzi M, Bartoletti-Stella A, Dall'Olio D, Matteuzzi T, Baiardi S, Parchi P, Castellani G, Capellari |
| Mutation screening and association analysis of NOTCH3 p.R544C in patients with migraine with or without aura. Cephalalgia : an international journal of headache 2022 3 42 (9): 888-898. Wang Yen-Feng, Liao Yi-Chu, Tzeng Yi-Shiang, Chen Shih-Pin, Lirng Jiing-Feng, Fuh Jong-Ling, Chen Wei-Ta, Lai Kuan-Lin, Lee Yi-Chung, Wang Shuu-Ji |
| The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population. CNS neuroscience & therapeutics 2021 Sep . Xiao Xuewen, Guo Lina, Liao Xinxin, Zhou Yafang, Zhang Weiwei, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Xu Tianyan, Zhu Yuan, Yang Qijie, Hao Xiaoli, Liu Yingzi, Wang Junling, Li Jinchen, Jiao Bin, Shen |
| Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Frontiers in aging neuroscience 2021 11 13 745407. Sun Lin, Zhang Jianye, Su Ning, Zhang Shaowei, Yan Feng, Lin Xiang, Yu Jie, Li Wei, Li Xia, Xiao Shi |
| Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 6 18 (2): 307-317. Teerlink Craig C, Miller Justin B, Vance Elizabeth L, Staley Lyndsay A, Stevens Jeffrey, Tavana Justina P, Cloward Matthew E, Page Madeline L, Dayton Louisa, , Cannon-Albright Lisa A, Kauwe John S |
| Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study. Frontiers in neurology 2021 3 12 586366. Yoon Cindy W, Kim Young-Eun, Kim Hee Jin, Ki Chang-Seok, Lee Hyejoo, Rha Joung-Ho, Na Duk L, Seo Sang W |
| Contribution of rare variant associations to neurodegenerative disease presentation. NPJ genomic medicine 2021 9 6 (1): 80. Dilliott Allison A, Abdelhady Abdalla, Sunderland Kelly M, Farhan Sali M K, Abrahao Agessandro, Binns Malcolm A, Black Sandra E, Borrie Michael, Casaubon Leanne K, Dowlatshahi Dar, Finger Elizabeth, Fischer Corinne E, Frank Andrew, Freedman Morris, Grimes David, Hassan Ayman, Jog Mandar, Kumar Sanjeev, Kwan Donna, Lang Anthony E, Mandzia Jennifer, Masellis Mario, McIntyre Adam D, Pasternak Stephen H, Pollock Bruce G, Rajji Tarek K, Rogaeva Ekaterina, Sahlas Demetrios J, Saposnik Gustavo, Sato Christine, Seitz Dallas, Shoesmith Christen, Steeves Thomas D L, Swartz Richard H, Tan Brian, Tang-Wai David F, Tartaglia Maria C, Turnbull John, Zinman Lorne, , Hegele Robert |
| Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2021 6 82 (2): 841-853. Schoemaker Dorothee, Velilla-Jimenez Lina, Zuluaga Yesica, Baena Ana, Ospina Carolina, Bocanegra Yamile, Alvarez Sergio, Ochoa-Escudero Martin, Guzmán-Vélez Edmarie, Martinez Jairo, Lopera Francisco, Arboleda-Velasquez Joseph F, Quiroz Yakeel |
| Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease. Stroke 2021 8 52 (12): 3918-3925. Liu Jing-Yi, Yao Ming, Dai Yi, Han Fei, Zhai Fei-Fei, Zhang Ding-Ding, Zhou Li-Xin, Ni Jun, Zhang Shu-Yang, Cui Li-Ying, Zhu Yi-Che |
| The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population. CNS neuroscience & therapeutics 2021 5 27 (8): 930-940. Guo Lina, Jiao Bin, Liao Xinxin, Xiao Xuewen, Zhang Weiwei, Yuan Zhenhua, Liu Xixi, Zhou Lu, Wang Xin, Zhu Yuan, Yang Qijie, Wang Junling, Tang Beisha, Shen |
| 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 |
| Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta neuropathologica communications 2020 Jan 8 (1): 5. Orme Tatiana, Hernandez Dena, Ross Owen A, Kun-Rodrigues Celia, Darwent Lee, Shepherd Claire E, Parkkinen Laura, Ansorge Olaf, Clark Lorraine, Honig Lawrence S, Marder Karen, Lemstra Afina, Rogaeva Ekaterina, St George-Hyslop Peter, Londos Elisabet, Zetterberg Henrik, Morgan Kevin, Troakes Claire, Al-Sarraj Safa, Lashley Tammaryn, Holton Janice, Compta Yaroslau, Van Deerlin Vivianna, Trojanowski John Q, Serrano Geidy E, Beach Thomas G, Lesage Suzanne, Galasko Douglas, Masliah Eliezer, Santana Isabel, Pastor Pau, Tienari Pentti J, Myllykangas Liisa, Oinas Minna, Revesz Tamas, Lees Andrew, Boeve Brad F, Petersen Ronald C, Ferman Tanis J, Escott-Price Valentina, Graff-Radford Neill, Cairns Nigel J, Morris John C, Pickering-Brown Stuart, Mann David, Halliday Glenda, Stone David J, Dickson Dennis W, Hardy John, Singleton Andrew, Guerreiro Rita, Bras Jo |
| Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population. Stroke 2020 11 51 (12): 3562-3569. Hack Remco J, Rutten Julie W, Person Thomas N, Li Jiang, Khan Ayesha, Griessenauer Christoph J, , Abedi Vida, Lesnik Oberstein Saskia A J, Zand Ram |
| Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing. Clinical interventions in aging 2020 15 1831-1839. Han Li-Hong, Xue Yan-Yan, Zheng Yi-Cen, Li Xiao-Yan, Lin Rong-Rong, Wu Zhi-Ying, Tao Qing-Qi |
| Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients. Journal of human genetics 2020 4 65 (8): 637-646. Mukai Mao, Mizuta Ikuko, Watanabe-Hosomi Akiko, Koizumi Takashi, Matsuura Jun, Hamano Ai, Tomimoto Hidekazu, Mizuno Toshi |
| 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, |
| Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. Cold Spring Harbor molecular case studies 2019 12 5 (6): . Cochran J Nicholas, McKinley Emily C, Cochran Meagan, Amaral Michelle D, Moyers Bryan A, Lasseigne Brittany N, Gray David E, Lawlor James M J, Prokop Jeremy W, Geier Ethan G, Holt James M, Thompson Michelle L, Newberry J Scott, Yokoyama Jennifer S, Worthey Elizabeth A, Geldmacher David S, Love Marissa Natelson, Cooper Gregory M, Myers Richard M, Roberson Erik |
| Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. Journal of psychiatric research 2019 4 113 141-147. Wang Guihong, Zhang Deng-Feng, Jiang Hong-Yan, Fan Yu, Ma Lingyan, Shen Zonglin, Bi Rui, Xu Min, Tan Liwen, Shan Baoci, Yao Yong-Gang, Feng T |
| Next Generation Sequencing Analysis in Early Onset Dementia Patients. Journal of Alzheimer's disease : JAD 2019 67 (1): 243-256. Bonvicini Cristian, Scassellati Catia, Benussi Luisa, Di Maria Emilio, Maj Carlo, Ciani Miriam, Fostinelli Silvia, Mega Anna, Bocchetta Martina, Lanzi Gaetana, Giacopuzzi Edoardo, Ferraboli Sergio, Pievani Michela, Fedi Virginia, Defanti Carlo Alberto, Giliani Silvia, , Frisoni Giovanni Battista, Ghidoni Roberta, Gennarelli Massi |
| NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population. Neurology 2019 12 94 (1): e87-e96. Lee Yi-Chung, Chung Chih-Ping, Chang Ming-Hong, Wang Shuu-Jiun, Liao Yi-C |
| The role of clinical and neuroimaging features in the diagnosis of CADASIL. Journal of neurology 2018 10 265 (12): 2934-2943. Bersano Anna, Bedini Gloria, Markus Hugh Stephen, Vitali Paolo, Colli-Tibaldi Enrico, Taroni Franco, Gellera Cinzia, Baratta Silvia, Mosca Lorena, Carrera Paola, Ferrari Maurizio, Cereda Cristina, Grieco Gaetano, Lanfranconi Silvia, Mazucchelli Franca, Zarcone Davide, De Lodovici Maria Luisa, Bono Giorgio, Boncoraglio Giorgio Battista, Parati Eugenio Agostino, Calloni Maria Vittoria, Perrone Patrizia, Bordo Bianca Maria, Motto Cristina, Agostoni Elio, Pezzini Alessandro, Padovani Alessandro, Micieli Giuseppe, Cavallini Anna, Molini Graziella, Sasanelli Francesco, Sessa Maria, Comi Giancarlo, Checcarelli Nicoletta, Carmerlingo Massimo, Corato Manuel, Marcheselli Simona, Fusi Laura, Grampa Giampiero, Uccellini Davide, Beretta Simone, Ferrarese Carlo, Incorvaia Barbara, Tadeo Carlo Sebastiano, Adobbati Laura, Silani Vincenzo, Faragò Giuseppe, Trobia Nadia, Grond-Ginsbach Caspar, Candelise Livia, |
| Whole-Exome Sequencing of an Exceptional Longevity Cohort. The journals of gerontology. Series A, Biological sciences and medical sciences 2018 5 74 (9): 1386-1390. Nygaard Haakon B, Erson-Omay E Zeynep, Wu Xiujuan, Kent Brianne A, Bernales Cecily Q, Evans Daniel M, Farrer Matthew J, Vilariño-Güell Carles, Strittmatter Stephen |
| Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease. CNS neuroscience & therapeutics 2017 8 23 (9): 759-765. Di Donato Ilaria, Bianchi Silvia, Gallus Gian Nicola, Cerase Alfonso, Taglia Ilaria, Pescini Francesca, Nannucci Serena, Battisti Carla, Inzitari Domenico, Pantoni Leonardo, Zini Andrea, Federico Antonio, Dotti Maria Tere |
| Predictors and Clinical Impact of Incident Lacunes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. Stroke 2016 12 48 (2): 283-289. Ling Yifeng, De Guio François, Duering Marco, Jouvent Eric, Hervé Dominique, Godin Ophélia, Dichgans Martin, Chabriat Hugu |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 29, 2023
- Content source: