Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 40 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and TBK1[original query] |
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| Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. Journal of neurology, neurosurgery, and psychiatry 2017 9 89 (2): 162-168. Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricardo, Borrego-Hernández Daniel, Illán-Gala Ignacio, Muñoz-Blanco José Luís, Rábano Alberto, Cervera-Carles Laura, Juárez-Rufián Alexandra, Spataro Nino, De Luna Noemí, Galán Lucía, Cortes-Vicente Elena, Fortea Juan, Blesa Rafael, Grau-Rivera Oriol, Lleó Alberto, Esteban-Pérez Jesús, Gelpi Ellen, Clarimón Jor |
| TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation. Journal of neurology, neurosurgery, and psychiatry 2017 8 88 (10): 869-875. Pozzi Laura, Valenza Fabiola, Mosca Lorena, Dal Mas Andrea, Domi Teuta, Romano Alessandro, Tarlarini Claudia, Falzone Yuri Matteo, Tremolizzo Lucio, Sorarù Gianni, Cerri Federica, Ferraro Pilar M, Basaia Silvia, Agosta Federica, Fazio Raffaella, Comola Mauro, Comi Giancarlo, Ferrari Maurizio, Quattrini Angelo, Lunetta Christian, Penco Silvana, Bonanomi Dario, Carrera Paola, Riva Ni |
| Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline. Journal of Alzheimer's disease : JAD 2017 Oct . Piaceri Irene, Bessi Valentina, Matà Sabrina, Polito Cristina, Tedde Andrea, Berti Valentina, Bagnoli Silvia, Braccia Arianna, Del Mastio Monica, Pignone Alberto Moggi, Pupi Alberto, Sorbi Sandro, Nacmias Benedet |
| 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, , |
| Tuning Apoptosis and Neuroinflammation: TBK1 Restrains RIPK1. Cell 2018 09 174 (6): 1339-1341. Yu Haiyang, Cleveland Don |
| 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, |
| Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort. Translational neurodegeneration 2018 12 7 31. Jiao Bin, Sun Qiying, Yuan Zhenhua, Wang Junling, Zhou Lin, Yan Xinxiang, Tang Beisha, Shen |
| Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018 Jan . Cui Rongrong, Tuo Miao, Li Pengfei, Zhou Cha |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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- |
| 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 |
| 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 |
| 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 |
| 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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