Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 39 Records) |
| Query Trace: Disease and TBK1[original query] |
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| Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome medicine 2017 Nov 9 (1): 97. Gratten Jacob, Zhao Qiongyi, Benyamin Beben, Garton Fleur, He Ji, Leo Paul J, Mangelsdorf Marie, Anderson Lisa, Zhang Zong-Hong, Chen Lu, Chen Xiang-Ding, Cremin Katie, Deng Hong-Weng, Edson Janette, Han Ying-Ying, Harris Jessica, Henders Anjali K, Jin Zi-Bing, Li Zhongshan, Lin Yong, Liu Xiaolu, Marshall Mhairi, Mowry Bryan J, Ran Shu, Reutens David C, Song Sharon, Tan Li-Jun, Tang Lu, Wallace Robyn H, Wheeler Lawrie, Wu Jinyu, Yang Jian, Xu Huji, Visscher Peter M, Bartlett Perry F, Brown Matthew A, Wray Naomi R, Fan Dongshe |
| Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort. Neurobiology of aging 2017 Oct . Verheijen Jan, van der Zee Julie, Gijselinck Ilse, Van den Bossche Tobi, Dillen Lubina, Heeman Bavo, Gómez-Tortosa Estrella, Lladó Albert, Sanchez-Valle Raquel, Graff Caroline, Pastor Pau, Pastor Maria A, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Clarimon Jordi, de Mendonça Alexandre, Gelpi Ellen, Tsolaki Magda, Diehl-Schmid Janine, Nacmias Benedetta, Almeida Maria Rosário, Borroni Barbara, Matej Radoslav, Ruiz Agustín, Engelborghs Sebastiaan, Vandenberghe Rik, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christine, Sleegers Kristel, , |
| ALS Genes in the Genomic Era and their Implications for FTD. Trends in genetics : TIG 2018 4 34 (6): 404-423. Nguyen Hung Phuoc, Van Broeckhoven Christine, van der Zee Jul |
| Comprehensive analysis of the mutation spectrum in 301 German ALS families. Journal of neurology, neurosurgery, and psychiatry 2018 4 89 (8): 817-827. Müller Kathrin, Brenner David, Weydt Patrick, Meyer Thomas, Grehl Torsten, Petri Susanne, Grosskreutz Julian, Schuster Joachim, Volk Alexander E, Borck Guntram, Kubisch Christian, Klopstock Thomas, Zeller Daniel, Jablonka Sibylle, Sendtner Michael, Klebe Stephan, Knehr Antje, Günther Kornelia, Weis Joachim, Claeys Kristl G, Schrank Berthold, Sperfeld Anne-Dorte, Hübers Annemarie, Otto Markus, Dorst Johannes, Meitinger Thomas, Strom Tim M, Andersen Peter M, Ludolph Albert C, Weishaupt Jochen H, |
| Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2018 04 64 158.e15-158.e19. Tohnai Genki, Nakamura Ryoichi, Sone Jun, Nakatochi Masahiro, Yokoi Daichi, Katsuno Masahisa, Watanabe Hazuki, Watanabe Hirohisa, Ito Mizuki, Li Yuanzhe, Izumi Yuishin, Morita Mitsuya, Taniguchi Akira, Kano Osamu, Oda Masaya, Kuwabara Satoshi, Abe Koji, Aiba Ikuko, Okamoto Koichi, Mizoguchi Kouichi, Hasegawa Kazuko, Aoki Masashi, Hattori Nobutaka, Onodera Osamu, Naruse Hiroya, Mitsui Jun, Takahashi Yuji, Goto Jun, Ishiura Hiroyuki, Morishita Shinichi, Yoshimura Jun, Doi Koichiro, Tsuji Shoji, Nakashima Kenji, Kaji Ryuji, Atsuta Naoki, Sobue Gen, |
| Gene mutations in a Han Chinese Alzheimer's disease cohort. Brain and behavior 2018 12 9 (1): e01180. Ma Limin, Zhang Jiewen, Shi Yingying, Wang Wan, Ren Zhixia, Xia Mingrong, Zhang Yuanxing, Yang Miaomi |
| Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS medicine 2018 1 15 (1): e1002487. Broce Iris, Karch Celeste M, Wen Natalie, Fan Chun C, Wang Yunpeng, Tan Chin Hong, Kouri Naomi, Ross Owen A, Höglinger Günter U, Muller Ulrich, Hardy John, , Momeni Parastoo, Hess Christopher P, Dillon William P, Miller Zachary A, Bonham Luke W, Rabinovici Gil D, Rosen Howard J, Schellenberg Gerard D, Franke Andre, Karlsen Tom H, Veldink Jan H, Ferrari Raffaele, Yokoyama Jennifer S, Miller Bruce L, Andreassen Ole A, Dale Anders M, Desikan Rahul S, Sugrue Leo |
| Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
| Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS. Neurobiology of aging 2019 Mar . Lattante Serena, Doronzio Paolo Niccolò, Marangi Giuseppe, Conte Amelia, Bisogni Giulia, Bernardo Daniela, Russo Tommaso, Lamberti Dante, Patrizi Sara, Apollo Francesco Paolo, Lunetta Christian, Scarlino Stefania, Pozzi Laura, Zollino Marcella, Riva Nilo, Sabatelli Mar |
| Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta neuropathologica 2019 Feb . Pottier Cyril, Ren Yingxue, Perkerson Ralph B, Baker Matt, Jenkins Gregory D, van Blitterswijk Marka, DeJesus-Hernandez Mariely, van Rooij Jeroen G J, Murray Melissa E, Christopher Elizabeth, McDonnell Shannon K, Fogarty Zachary, Batzler Anthony, Tian Shulan, Vicente Cristina T, Matchett Billie, Karydas Anna M, Hsiung Ging-Yuek Robin, Seelaar Harro, Mol Merel O, Finger Elizabeth C, Graff Caroline, Öijerstedt Linn, Neumann Manuela, Heutink Peter, Synofzik Matthis, Wilke Carlo, Prudlo Johannes, Rizzu Patrizia, Simon-Sanchez Javier, Edbauer Dieter, Roeber Sigrun, Diehl-Schmid Janine, Evers Bret M, King Andrew, Mesulam M Marsel, Weintraub Sandra, Geula Changiz, Bieniek Kevin F, Petrucelli Leonard, Ahern Geoffrey L, Reiman Eric M, Woodruff Bryan K, Caselli Richard J, Huey Edward D, Farlow Martin R, Grafman Jordan, Mead Simon, Grinberg Lea T, Spina Salvatore, Grossman Murray, Irwin David J, Lee Edward B, Suh EunRan, Snowden Julie, Mann David, Ertekin-Taner Nilufer, Uitti Ryan J, Wszolek Zbigniew K, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Hodges John R, Piguet Olivier, Geier Ethan G, Yokoyama Jennifer S, Rissman Robert A, Rogaeva Ekaterina, Keith Julia, Zinman Lorne, Tartaglia Maria Carmela, Cairns Nigel J, Cruchaga Carlos, Ghetti Bernardino, Kofler Julia, Lopez Oscar L, Beach Thomas G, Arzberger Thomas, Herms Jochen, Honig Lawrence S, Vonsattel Jean Paul, Halliday Glenda M, Kwok John B, White Charles L, Gearing Marla, Glass Jonathan, Rollinson Sara, Pickering-Brown Stuart, Rohrer Jonathan D, Trojanowski John Q, Van Deerlin Vivianna, Bigio Eileen H, Troakes Claire, Al-Sarraj Safa, Asmann Yan, Miller Bruce L, Graff-Radford Neill R, Boeve Bradley F, Seeley William W, Mackenzie Ian R A, van Swieten John C, Dickson Dennis W, Biernacka Joanna M, Rademakers Ro |
| Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? Rheumatology (Oxford, England) 2020 5 60 (2): 607-616. Kosukcu Can, Taskiran Ekim Z, Batu Ezgi Deniz, Sag Erdal, Bilginer Yelda, Alikasifoglu Mehmet, Ozen Se |
| 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 |
| Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular psychiatry 2021 Sep . Wagner Matias, Lorenz Georg, Volk Alexander E, Brunet Theresa, Edbauer Dieter, Berutti Riccardo, Zhao Chen, Anderl-Straub Sarah, Bertram Lars, Danek Adrian, Deschauer Marcus, Dill Veronika, Fassbender Klaus, Fliessbach Klaus, Götze Katharina S, Jahn Holger, Kornhuber Johannes, Landwehrmeyer Bernhard, Lauer Martin, Obrig Hellmuth, Prudlo Johannes, Schneider Anja, Schroeter Matthias L, Uttner Ingo, Vukovich Ruth, Wiltfang Jens, Winkler Andrea S, Zhou Qihui, Ludolph Albert C, , Oexle Konrad, Otto Markus, Diehl-Schmid Janine, Winkelmann Julia |
| Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population. Journal of medical genetics 2021 Sep . Chen Yong-Ping, Yu Shi-Hui, Wei Qian-Qian, Cao Bei, Gu Xiao-Jing, Chen Xue-Ping, Song Wei, Zhao Bi, Wu Ying, Sun Ming-Ming, Liu Fei-Fei, Hou Yan-Bing, Ou Ru-Wei, Zhang Ling-Yu, Liu Kun-Cheng, Lin Jun-Yu, Xu Xin-Ran, Li Chun-Yu, Yang Jing, Jiang Zheng, Liu Jiao, Cheng Yang-Fan, Xiao Yi, Chen Ke, Feng Fei, Cai Ying-Ying, Li Shi-Rong, Hu Tao, Yuan Xiao-Qin, Guo Xiao-Yan, Liu Hui, Han Qing, Zhou Qing-Qing, Shao Na, Li Jian-Peng, Pan Ping-Lei, Ma Sha, Shang Hui-Fa |
| 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 |
| Genetics of frontotemporal dementia in China. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 2 22 (5-6): 321-335. Jiang Yaling, Jiao Bin, Xiao Xuewen, Shen |
| Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
| Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity. Frontiers in cellular and infection microbiology 2022 12 888582. Liu Panhong, Fang Mingyan, Luo Yuxue, Zheng Fang, Jin Yan, Cheng Fanjun, Zhu Huanhuan, Jin X |
| Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation. Frontiers in neurology 2022 11 13 993399. Li Pan, Y Yuanyuan, Cai Hao, Zhang Huihong, Zhou Yuyi |
| Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. NeuroImage. Clinical 2022 10 36 103222. Tondo Giacomo, Mazzini Letizia, Caminiti Silvia Paola, Sarnelli Maria Francesca, Corrado Lucia, Matheoud Roberta, D'Alfonso Sandra, Cantello Roberto, Sacchetti Gian Mauro, Perani Daniela, Comi Cristoforo, De Marchi Fabio |
| Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum. Research square 2023 8 . Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, James Gee, Lauren Elman, Colin Quinn, Defne A Amado, Michael Baer, Lauren Massimo, Murray Grossman, David J Irwin, Corey T McMill |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. medRxiv : the preprint server for health sciences 2023 10 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , , , David B Goldstein, Matthew B Har |
| Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration. Neurology 2024 9 103 (8): e209832. Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle E Brushaber, Adam M Staffaroni, Daniel H Geschwind, Amy A Wolf, Kejal Kantarci, Tania Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea C Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas Galasko, Nupur Ghoshal, Neill R Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek R Hsiung, Edward D Huey, David J Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi U Onyike, Belen Pascual, Peter S Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, Maria Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademakers, |
| 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 |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
| Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients. Journal of neuromuscular diseases 2024 7 . Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvi?áková, Eva Vl?ková, Lubica Joppeková, Tereza Kramá?ová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazan |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC genomics 2024 7 25 (1): 651. Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , , , David B Goldstein, Matthew B Har |
| Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration. medRxiv : the preprint server for health sciences 2024 4 . Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle Brushaber, Adam M Staffaroni, Daniel Geschwind, Amy Wolf, Kejal Kantarci, Tania F Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew C Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas R Galasko, Nupur Ghoshal, Neill Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek Robin Hsiung, Edward D Huey, David Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi Onyike, Belen Pascual, Peter Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, M Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademake |
| Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study. Scientific reports 2024 12 14 (1): 30781. Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, Anthi Georghiou, Christiana C Christodoulou, Kleopas Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Paschalis Nicola |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. Research square 2024 1 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , David B Goldstein, Matthew B Har |
- Page last reviewed:Feb 1, 2024
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