Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 119 Records) |
| Query Trace: Disease and PSEN2[original query] |
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| Effects of ApoE genotype on clinical phenotypes in early-onset and late-onset Alzheimer's disease in China: Data from the PUMCH dementia cohort. Brain and behavior 2021 Sep e2373. Dong Liling, Li Jie, Liu Caiyan, Mao Chenhui, Wang Jie, Lei Dan, Huang Xinying, Chu Shanshan, Hou Bo, Feng Feng, Sha Longze, Xu Qi, Gao Ji |
| A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report. Frontiers in aging neuroscience 2021 13 710075. Wan Ke, Ma Zhen-Juan, Zhou Xia, Zhang Yi-Mei, Yu Xian-Feng, You Meng-Zhe, Huang Chao-Juan, Zhang Wei, Sun Zhong- |
| Absence of coding somatic single nucleotide variants within well-known candidate genes in late-onset sporadic Alzheimer's Disease based on the analysis of multi-omics data. Neurobiology of aging 2021 8 108 207-209. Min Shishi, Li Zongchang, Shieh Annie, Giase Gina, Bao Riyue, Zhang Chunling, Kuney Liz, Kopp Richard, Asif Huma, Alliey-Rodriguez Ney, Qin Lixia, Craig David Wesley, Faulkner Geoffrey J, Gershon Elliot S, Tang Beisha, Chen Chao, Liu Chun |
| The role of genetics in neurodegenerative dementia: a large cohort study in South China. NPJ genomic medicine 2021 8 6 (1): 69. Jiao Bin, Liu Hui, Guo Lina, Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Zhou Lu, Wang Xin, Jiang Yaling, Yang Qijie, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Yan Xinxiang, Li Jinchen, Tang Beisha, Shen |
| APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. Frontiers in aging neuroscience 2021 7 13 695808. Xiao Xuewen, Liu Hui, Liu Xixi, Zhang Weiwei, Zhang Sizhe, Jiao B |
| 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 |
| 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 |
| Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease. Frontiers in aging neuroscience 2022 9 14 969817. Bartoletti-Stella Anna, Tarozzi Martina, Mengozzi Giacomo, Asirelli Francesca, Brancaleoni Laura, Mometto Nicola, Stanzani-Maserati Michelangelo, Baiardi Simone, Linarello Simona, Spallazzi Marco, Pantieri Roberta, Ferriani Elisa, Caffarra Paolo, Liguori Rocco, Parchi Piero, Capellari Sabi |
| High Soluble Amyloid-?42 Predicts Normal Cognition in Amyloid-Positive Individuals with Alzheimer's Disease-Causing Mutations. Journal of Alzheimer's disease : JAD 2022 Sep . Sturchio Andrea, Dwivedi Alok K, Malm Tarja, Wood Matthew J A, Cilia Roberto, Sharma Jennifer S, Hill Emily J, Schneider Lon S, Graff-Radford Neill R, Mori Hiroshi, Nübling Georg, El Andaloussi Samir, Svenningsson Per, Ezzat Kariem, Espay Alberto J, |
| Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort. Neurobiology of aging 2022 Jul . Mathioudakis Lambros, Dimovasili Christina, Bourbouli Mara, Latsoudis Helen, Kokosali Evgenia, Gouna Garyfallia, Vogiatzi Emmanouella, Basta Maria, Kapetanaki Stefania, Panagiotakis Simeon, Kanterakis Alexandros, Boumpas Dimitrios, Lionis Christos, Plaitakis Andreas, Simos Panagiotis, Vgontzas Alexandros, Kafetzopoulos Dimitrios, Zaganas Ioann |
| PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review. Frontiers in aging neuroscience 2022 8 14 860529. Orozco-Barajas Maribel, Oropeza-Ruvalcaba Yulisa, Canales-Aguirre Alejandro A, Sánchez-González Victor |
| Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. Brain : a journal of neurology 2022 8 146 (2): 507-518. Course Meredith M, Gudsnuk Kathryn, Keene C Dirk, Bird Thomas D, Jayadev Suman, Valdmanis Paul |
| Genetic landscape of early-onset dementia in Hungary. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jun . Csaban Dora, Illes Anett, Renata Toth-Bencsik, Balicza Peter, Pentelenyi Klara, Molnar Viktor, Gezsi Andras, Grosz Zoltan, Gal Aniko, Kovacs Tibor, Klivenyi Peter, Molnar Maria Jud |
| PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 5 87 (4): 1549-1556. Dong Liling, Liu Caiyan, Sha Longze, Mao Chenhui, Li Jie, Huang Xinying, Wang Jie, Chu Shanshan, Peng Bin, Cui Liying, Xu Qi, Gao Ji |
| A review ofimaging genetics in Alzheimer's disease. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2022 4 100 155-163. Xin Yu, Sheng Jinhua, Miao Miao, Wang Luyun, Yang Ze, Huang |
| Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol. Alzheimer disease and associated disorders 2022 3 36 (2): 118-124. Galluzzi Samantha, Mega Anna, Di Fede Giuseppe, Muscio Cristina, Fascendini Sara, Benussi Luisa, Tagliavini Fabrizio, Frisoni Giovanni B, Di Maria Emilio, |
| Evaluation of common and rare variants of Alzheimer's disease-causal genes in Parkinson's disease. Parkinsonism & related disorders 2022 3 97 8-14. Zeng Qian, Pan Hongxu, Zhao Yuwen, Wang Yige, Xu Qian, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jife |
| Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology 2022 12 22 (1): 55-65. Boerwinkle Anna H, Gordon Brian A, Wisch Julie, Flores Shaney, Henson Rachel L, Butt Omar H, McKay Nicole, Chen Charles D, Benzinger Tammie L S, Fagan Anne M, Handen Benjamin L, Christian Bradley T, Head Elizabeth, Mapstone Mark, Rafii Michael S, O'Bryant Sid, Lai Florence, Rosas H Diana, Lee Joseph H, Silverman Wayne, Brickman Adam M, Chhatwal Jasmeer P, Cruchaga Carlos, Perrin Richard J, Xiong Chengjie, Hassenstab Jason, McDade Eric, Bateman Randall J, Ances Beau M, , |
| Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese. Current Alzheimer research 2022 10 19 (10): 724-733. Liu Cuicui, Cong Lin, Zhu Min, Wang Yongxiang, Tang Shi, Han Xiaojuan, Zhang Qinghua, Tian Na, Liu Keke, Liang Xiaoyan, Fa Wenxin, Wang Nan, Hou Tingting, Du Yife |
| Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains. Alzheimer's & dementia : the journal of the Alzheimer's Association 2022 10 . Novotny Brenna C, Fernandez Maria Victoria, Wang Ciyang, Budde John P, Bergmann Kristy, Eteleeb Abdallah M, Bradley Joseph, Webster Carol, Ebl Curtis, Norton Joanne, Gentsch Jen, Dube Umber, Wang Fengxian, Morris John C, Bateman Randall J, Perrin Richard J, McDade Eric, Xiong Chengjie, Chhatwal Jasmeer, , , , Goate Alison, Farlow Martin, Schofield Peter, Chui Helena, Karch Celeste M, Cruchaga Carlos, Benitez Bruno A, Harari Osc |
| The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population. CNS neuroscience & therapeutics 2022 Oct . Xiao Xuewen, Liu Hui, Zhou Lu, Liu Xixi, Xu Tianyan, Zhu Yuan, Yang Qijie, Hao Xiaoli, Liu Yingzi, Zhang Weiwei, Zhou Yafang, Wang Junling, Li Jinchen, Jiao Bin, Shen Lu, Liao Xinx |
| Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn. International journal of molecular sciences 2023 4 24 (8): . Heewon Bae, Kyu Hwan Shim, Jang Yoo, Young-Soon Yang, Seong Soo A An, Min-Ju Ka |
| Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease. Frontiers in neurology 2023 4 14 1119326. Liang Zhihou, Wu Yan, Li Chuanzhou, Liu Zhij |
| Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP). medRxiv : the preprint server for health sciences 2023 11 . Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage, Eric Boerwinkle, Philip L De Jager, Ellen Wijsman, Josée Dupuis, Alan E Renton, Sudha Seshadri, Alison Goate, , Anita L DeStefano, Gina M Pelo |
| Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 10 . Kelly N H Nudelman, Trever Jackson, Malia Rumbaugh, Ani Eloyan, Marco Abreu, Jeffrey L Dage, Casey Snoddy, Kelley M Faber, Tatiana Foroud, Dustin B Hammers, , Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Laurel Beckett, Joel Kramer, Robert Koeppe, Walter A Kukull, Melissa E Murray, Arthur W Toga, Prashanthi Vemuri, Alireza Atri, Gregory S Day, Ranjan Duara, Neill R Graff-Radford, Lawrence S Honig, David T Jones, Joseph C Masdeu, Mario Mendez, Erik Musiek, Chiadi U Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon J Sha, R Scott Turner, Thomas S Wingo, David A Wolk, Maria C Carrillo, Bradford C Dickerson, Gil D Rabinovici, Liana G Apostolova, |
| Cell type-specific histone acetylation profiling of Alzheimer's disease subjects and integration with genetics. Frontiers in molecular neuroscience 2023 1 15 948456. Ramamurthy Easwaran, Welch Gwyneth, Cheng Jemmie, Yuan Yixin, Gunsalus Laura, Bennett David A, Tsai Li-Huei, Pfenning Andreas |
| Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia. Movement disorders : official journal of the Movement Disorder Society 2024 8 . Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad-Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng-King Tan, Shen-Yang L |
| Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy. International journal of molecular sciences 2024 7 25 (13): . Claudia Saraceno, Lorenzo Pagano, Valentina Laganà, Andrea Geviti, Silvia Bagnoli, Assunta Ingannato, Salvatore Mazzeo, Antonio Longobardi, Silvia Fostinelli, Sonia Bellini, Alberto Montesanto, Giuliano Binetti, Raffaele Maletta, Benedetta Nacmias, Roberta Ghido |
| Case report: Double mutations in a patient with early-onset Alzheimer's disease in China, PSEN2 and IDE variants. Frontiers in neuroscience 2024 11 18 1423892. Zhongzheng Chang, Zhiyang Wang, Lele Luo, Zhaohong Xie, Caibin Yue, Xianli Bian, Hui Yang, Ping Wa |
| Risk of Alzheimer's disease and genetically predicted levels of 1400 plasma metabolites: a Mendelian randomization study. Scientific reports 2024 10 14 (1): 26078. Di Cao, Yini Zhang, Shaobo Zhang, Jun Li, Qiguang Yang, Ping Wa |
- Page last reviewed:Feb 1, 2024
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