Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Frontotemporal Dementia and PSEN1[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 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA neurology 2013 Jun 70 (6): 736-41. Harms Matthew, Benitez Bruno A, Cairns Nigel, Cooper Breanna, Cooper Paul, Mayo Kevin, Carrell David, Faber Kelley, Williamson Jennifer, Bird Tom, Diaz-Arrastia Ramon, Foroud Tatiana M, Boeve Bradley F, Graff-Radford Neill R, Mayeux Richard, Chakraverty Sumitra, Goate Alison M, Cruchaga Carlos, |
| 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 |
| 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 |
| Rare variants in ?-Amyloid precursor protein (APP) and Parkinson's disease. European journal of human genetics : EJHG 2015 Oct 23 (10): 1328-33. Schulte Eva C, Fukumori Akio, Mollenhauer Brit, Hor Hyun, Arzberger Thomas, Perneczky Robert, Kurz Alexander, Diehl-Schmid Janine, Hüll Michael, Lichtner Peter, Eckstein Gertrud, Zimprich Alexander, Haubenberger Dietrich, Pirker Walter, Brücke Thomas, Bereznai Benjamin, Molnar Maria J, Lorenzo-Betancor Oswaldo, Pastor Pau, Peters Annette, Gieger Christian, Estivill Xavier, Meitinger Thomas, Kretzschmar Hans A, Trenkwalder Claudia, Haass Christian, Winkelmann Julia |
| 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 |
| Clinical exome sequencing in dementias: a preliminary study. Psychiatria Danubina 2018 Jun 30 (2): 216-219. Zalar Bojan, Maver Aleš, Kovanda Ana, Peterlin Ana, Peterlin Bor |
| 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 |
| Frontotemporal dementia spectrum: first genetic screen in a Greek cohort. Neurobiology of aging 2018 12 75 224.e1-224.e8. Ramos Eliana Marisa, Koros Christos, Dokuru Deepika Reddy, Van Berlo Victoria, Kroupis Christos, Wojta Kevin, Wang Qing, Andronas Nikolaos, Matsi Stavroula, Beratis Ion N, Huang Alden Y, Lee Suzee E, Bonakis Anastasios, Florou-Hatziyiannidou Chryseis, Fragkiadaki Stella, Kontaxopoulou Dionysia, Agiomyrgiannakis Dimitrios, Kamtsadeli Vasiliki, Tsinia Niki, Papastefanopoulou Vasiliki, Stamelou Maria, Miller Bruce L, Stefanis Leonidas, Papatriantafyllou John D, Papageorgiou Sokratis G, Coppola Giovan |
| 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 |
| Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease. International journal of molecular sciences 2019 Mar 20 (6): . Giau Vo Van, Senanarong Vorapun, Bagyinszky Eva, An Seong Soo A, Kim SangY |
| 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 |
| 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 |
| 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 |
| Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. Neurobiology of aging 2020 Feb . Ramos-Campoy Oscar, Antonell Anna, Falgàs Neus, Balasa Mircea, Borrego-Écija Sergi, Rodríguez-Santiago Benjamín, Datta Debayan, Armengol Lluís, Fernández-Villullas Guadalupe, Bosch Beatriz, Olives Jaume, Muñoz-García Cristina, Castellví Magdalena, Tort-Merino Adrià, Sánchez-Valle Raquel, Lladó Albe |
| Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity. Frontiers in neurology 2020 12 11 596108. Parobkova Eva, van der Zee Julie, Dillen Lubina, Van Broeckhoven Christine, Rusina Robert, Matej Radosl |
| Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16 (1): 118-130. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Deverasetty Sandeep, Qin Yue, van Blitterswijk Marka, Jackson Jazmyne, Appleby Brian, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle E, Dickerson Bradford, Dickinson Susan, Domoto-Reilly Kimiko, Faber Kelley, Fields Julie, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek R, Huey Edward, Irwin David, Kantarci Kejal, Karydas Anna, Kaufer Daniel, Kerwin Diana, Knopman David, Kornak John, Kramer Joel H, Kremers Walter, Kukull Walter, Litvan Irene, Ljubenkov Peter, Lungu Codrin, Mackenzie Ian, Mendez Mario F, Miller Bruce L, Onyike Chiadi, Pantelyat Alexander, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Shaw Leslie, Syrjanen Jeremy, Tartaglia Maria Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew, Rademakers Rosa, Boeve Brad F, Rosen Howard J, Boxer Adam L, , Coppola Giovan |
| 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 |
| A Young Man with Cognitive Impairment and a Heart Condition. Journal of Alzheimer's disease : JAD 2022 7 89 (2): 405-410. Russo Mirella, Santilli Matteo, De Rosa Matteo A, Calisi Dario, Dono Fedele, Mattoli Maria Vittoria, Bonanni Laura, Onofrj Marco, Sensi Stefano |
| 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 |
| Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
| 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 |
- Page last reviewed:Feb 1, 2024
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