Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 63 Records) |
Query Trace: TBK1[original query] |
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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 |
Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis. Neuropathology and applied neurobiology 2019 9 46 (3): 279-291. Weinreich M, Shepheard S R, Verber N, Wyles M, Heath P R, Highley J R, Kirby J, Shaw P |
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 |
Epistatic effect of TLR3 and cGAS-STING-IKK?-TBK1-IFN signaling variants on colorectal cancer risk. Cancer medicine 2019 Dec . Catalano Calogerina, da Silva Filho Miguel Inacio, Frank Christoph, Lu Shun, Jiraskova Katerina, Vymetalkova Veronika, Levy Miroslav, Liska Vaclav, Vycital Ondrej, Naccarati Alessio, Vodickova Ludmila, Hemminki Kari, Vodicka Pavel, Weber Alexander N R, Försti As |
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2020 9 97 149.e9-149.e15. Liu Xiaolu, He Ji, Chen Lu, Zhang Nan, Tang Lu, Liu Xiangyi, Ma Yan, Fan Dongshe |
Combination of variations in inflammation- and endoplasmic reticulum-associated genes as putative biomarker for bevacizumab response in KRAS wild-type colorectal cancer. Scientific reports 2020 6 10 (1): 9778. Barat Ana, Smeets Dominiek, Moran Bruce, Zhang Wu, Cao Shu, Das Sudipto, Klinger Rut, Betge Johannes, Murphy Verena, Bacon Orna, Kay Elaine W, Van Grieken Nicole C T, Verheul Henk M W, Gaiser Timo, Schulte Nadine, Ebert Matthias P, Fender Bozena, Hennessy Bryan T, McNamara Deborah A, O'Connor Darran, Gallagher William M, Cremolini Chiara, Loupakis Fotios, Parikh Aparna, Mancao Christoph, Ylstra Bauke, Lambrechts Diether, Lenz Heinz-Josef, Byrne Annette T, Prehn Jochen H |
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 |
Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses. Frontiers in immunology 2020 11 567348. Kennedy Richard B, Haralambieva Iana H, Ovsyannikova Inna G, Voigt Emily A, Larrabee Beth R, Schaid Daniel J, Zimmermann Michael T, Oberg Ann L, Poland Gregory |
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 |
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 |
Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome. Acta neurologica Scandinavica 2021 11 145 (4): 399-406. Arshad Faheem, Vengalil Seena, Nalini Atchayaram, Polavarapu Kiran, Shamim Uzma, Jabeen Shumyla, Nagaraj Chandana, Ramakrishnan Subasree, Faruq Mohammad, Alladi Suvar |
A phase 1b study of erlotinib and momelotinib for the treatment of EGFR-mutated, tyrosine kinase inhibitor-naive metastatic non-small cell lung cancer. Cancer chemotherapy and pharmacology 2021 11 89 (1): 105-115. Padda Sukhmani K, Reckamp Karen L, Koczywas Marianna, Neal Joel W, Kawashima Jun, Kong Shengchun, Huang Daniel B, Kowalski Mark, Wakelee Heather |
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 |
Genetics of progressive supranuclear palsy in a Chinese population. Neurobiology of disease 2022 Jul 172 105819. Xiao Xuewen, Yang Qijie, Wen Yafei, Jiao Bin, Liao Xinxin, Zhou Yafang, Weng Ling, Liu Hui, Xu Tianyan, Zhu Yuan, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Bi Xiangyun, Liu Yingzi, Zhang Sizhe, Zhang Weiwei, Li Jinchen, Tang Beisha, Shen |
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. BMC medicine 2022 6 20 (1): 209. Su Wei-Ming, Gu Xiao-Jing, Duan Qing-Qing, Jiang Zheng, Gao Xia, Shang Hui-Fang, Chen Yong-Pi |
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 |
Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis. Frontiers in molecular neuroscience 2022 3 15 691534. Lu Ying-Qian, Chen Jian-Min, Lin Han, Feng Shu-Yan, Che Chun-Hui, Liu Chang-Yun, Huang Hua-Pin, Zou Zhang- |
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 |
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 |
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: genetic analysis and clinical features. European journal of neurology 2023 7 . Bi Zhao, Qirui Jiang, Junyu Lin, Qianqian Wei, Chunyu Li, Yanbing Hou, Bei Cao, Lingyu Zhang, Ruwei Ou, Kuncheng Liu, Tianmi Yang, Yi Xiao, Huifang Sha |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
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. 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 |
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 |
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- Page last updated:Apr 22, 2024
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