Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Frontotemporal Dementia and PSEN2[original query] |
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| Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's research & therapy 2012 4 (4): 34. Jin Sheng Chih, Pastor Pau, Cooper Breanna, Cervantes Sebastian, Benitez Bruno A, Razquin Cristina, Goate Alison, , Cruchaga Carl |
| C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. American journal of neurodegenerative disease 2012 1 (1): 1. Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R |
| Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging 2014 Dec 35 (12): 2881.e1-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Al-Sarraj Safa, Niblock Michael, Gallo Jean-Marc, Adnan Jihad, Killick Richard, Brown Kristelle S, Medway Christopher, Lord Jenny, Turton James, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
| Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiology of aging 2014 Oct 35 (10): 2422.e13-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Lunnon Katie, Al-Sarraj Safa, Brown Kristelle S, Medway Chirstopher, Lord Jenny, Turton James, Mann David, Snowden Julie, Neary David, Harris Jeniffer, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
| Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations. Dementia and geriatric cognitive disorders 2015 39 (1-2): 32-40. Shi Zhihong, Wang Ying, Liu Shuai, Liu Mengyuan, Liu Shuling, Zhou Yuying, Wang Jinhuan, Cai Li, Huo Ya Ruth, Gao Shuo, Ji Yo |
| Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17. Journal of human genetics 2015 May 60 (5): 281-3. Kasuga Kensaku, Kikuchi Masataka, Tokutake Takayoshi, Nakaya Akihiro, Tezuka Toshiyuki, Tsukie Tamao, Hara Norikazu, Miyashita Akinori, Kuwano Ryozo, Ikeuchi Takes |
| Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiology of aging 2015 Sep . Blauwendraat Cornelis, Wilke Carlo, Jansen Iris E, Schulte Claudia, Simón-Sánchez Javier, Metzger Florian G, Bender Benjamin, Gasser Thomas, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
| Evaluating pathogenic dementia variants in posterior cortical atrophy. Neurobiology of aging 2015 Oct . Carrasquillo Minerva M, Barber Imelda, Lincoln Sarah J, Murray Melissa E, Camsari Gamze Balci, Khan Qurat Ul Ain, Nguyen Thuy, Ma Li, Bisceglio Gina D, Crook Julia E, Younkin Steven G, Dickson Dennis W, Boeve Bradley F, Graff-Radford Neill R, Morgan Kevin, Ertekin-Taner Nilüf |
| The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
| Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease. Frontiers in neuroscience 2018 12 230. Ibanez Laura, Dube Umber, Davis Albert A, Fernandez Maria V, Budde John, Cooper Breanna, Diez-Fairen Monica, Ortega-Cubero Sara, Pastor Pau, Perlmutter Joel S, Cruchaga Carlos, Benitez Bruno |
| Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
| 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 |
| Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations. Neurobiology of aging 2019 2 86 201.e9-201.e14. Wong Tsz Hang, Seelaar Harro, Melhem Shamiram, Rozemuller Annemieke J M, van Swieten John |
| Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia. Journal of the neurological sciences 2020 9 418 117143. Yu Chang-En, Chen Sunny, Jayadev Suman, Bird Thom |
| Genetics of dementia: insights from Latin America. Dementia & neuropsychologia 2020 9 14 (3): 223-236. Ramos Claudia, Aguillon David, Cordano Christian, Lopera Francis |
| 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 |
| Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2021 Feb . Hsu Jung-Lung, Lin Chin-Hsien, Chen Pei-Lung, Lin Kun-Ju, Chen Ta- |
| 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 |
| 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 |
| 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 |
| 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 |
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