Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: Amyotrophic Lateral Sclerosis and NEK1[original query] |
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature genetics 2016 Jul . Kenna Kevin P, van Doormaal Perry T C, Dekker Annelot M, Ticozzi Nicola, Kenna Brendan J, Diekstra Frank P, van Rheenen Wouter, van Eijk Kristel R, Jones Ashley R, Keagle Pamela, Shatunov Aleksey, Sproviero William, Smith Bradley N, van Es Michael A, Topp Simon D, Kenna Aoife, Miller Jack W, Fallini Claudia, Tiloca Cinzia, McLaughlin Russell L, Vance Caroline, Troakes Claire, Colombrita Claudia, Mora Gabriele, Calvo Andrea, Verde Federico, Al-Sarraj Safa, King Andrew, Calini Daniela, de Belleroche Jacqueline, Baas Frank, van der Kooi Anneke J, de Visser Marianne, Ten Asbroek Anneloor L M A, Sapp Peter C, McKenna-Yasek Diane, Polak Meraida, Asress Seneshaw, Muñoz-Blanco José Luis, Strom Tim M, Meitinger Thomas, Morrison Karen E, , Lauria Giuseppe, Williams Kelly L, Leigh P Nigel, Nicholson Garth A, Blair Ian P, Leblond Claire S, Dion Patrick A, Rouleau Guy A, Pall Hardev, Shaw Pamela J, Turner Martin R, Talbot Kevin, Taroni Franco, Boylan Kevin B, Van Blitterswijk Marka, Rademakers Rosa, Esteban-Pérez Jesús, García-Redondo Alberto, Van Damme Phillip, Robberecht Wim, Chio Adriano, Gellera Cinzia, Drepper Carsten, Sendtner Michael, Ratti Antonia, Glass Jonathan D, Mora Jesús S, Basak Nazli A, Hardiman Orla, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H, Brown Robert H, Al-Chalabi Ammar, Silani Vincenzo, Shaw Christopher E, van den Berg Leonard H, Veldink Jan H, Landers John |
NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients. Neurobiology of aging 2018 01 61 255.e1-255.e7. Nguyen Hung Phuoc, Van Mossevelde Sara, Dillen Lubina, De Bleecker Jan L, Moisse Matthieu, Van Damme Philip, Van Broeckhoven Christine, van der Zee Julie, |
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 |
Mutation screening of NEK1 in Chinese ALS patients. Neurobiology of aging 2018 Jun . Shu Shi, Lei Xingxing, Liu Fang, Cui Bo, Liu Qing, Ding Qingyun, Liu Ming Sheng, Li Xiao Guang, Cui Liying, Zhang X |
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 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 |
Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics. Journal of the neurological sciences 2019 May 402 62-68. Goldstein Orly, Kedmi Merav, Gana-Weisz Mali, Twito Shir, Nefussy Beatrice, Vainer Batel, Fainmesser Yaara, Abraham Alon, Nayshool Omri, Orr-Urtreger Avi, Drory Vivian |
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. Genome research 2019 4 29 (5): 809-818. Gelfman Sahar, Dugger Sarah, de Araujo Martins Moreno Cristiane, Ren Zhong, Wolock Charles J, Shneider Neil A, Phatnani Hemali, Cirulli Elizabeth T, Lasseigne Brittany N, Harris Tim, Maniatis Tom, Rouleau Guy A, Brown Robert H, Gitler Aaron D, Myers Richard M, Petrovski Slavé, Allen Andrew, Goldstein David B, Harms Matthew |
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
Scientific reports 2019 Apr 9 (1): 5931. Dekker Annelot M, Diekstra Frank P, Pulit Sara L, Tazelaar Gijs H P, van der Spek Rick A, van Rheenen Wouter, van Eijk Kristel R, Calvo Andrea, Brunetti Maura, Damme Philip Van, Robberecht Wim, Hardiman Orla, McLaughlin Russell, Chiò Adriano, Sendtner Michael, Ludolph Albert C, Weishaupt Jochen H, Pardina Jesus S Mora, van den Berg Leonard H, Veldink Jan |
Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis. Aging and disease 2019 Dec 10 (6): 1199-1206. Liu Zhi-Jun, Lin Hui-Xia, Wei Qiao, Zhang Qi-Jie, Chen Cong-Xin, Tao Qing-Qing, Liu Gong-Lu, Ni Wang, Gitler Aaron D, Li Hong-Fu, Wu Zhi-Yi |
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. Journal of human genetics 2020 Sep . Naruse Hiroya, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Matsukawa Takashi, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Goto Jun, Toda Tatsushi, Tsuji Sho |
Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant. Annals of clinical and translational neurology 2020 May . Tsai Yu-Shuen, Lin Kon-Ping, Jih Kang-Yang, Tsai Pei-Chien, Liao Yi-Chu, Lee Yi-Chu |
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 |
NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 Jan . Yao Luqing, He Xiaoyan, Cui Baolong, Zhao Fang, Zhou Cha |
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 |
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk. Neurobiology of aging 2022 Aug 116 92-95. Grima Natalie, Henden Lyndal, Fearnley Liam G, Rowe Dominic B, D'Silva Susan, Pamphlett Roger, Adams Lorel, Kiernan Matthew C, Mazumder Srestha, Timmins Hannah C, Zoing Margaret, Bahlo Melanie, Blair Ian P, Williams Kelly |
NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis. Frontiers in neuroscience 2022 5 16 833051. Riva Nilo, Pozzi Laura, Russo Tommaso, Pipitone Giovanni Battista, Schito Paride, Domi Teuta, Agosta Federica, Quattrini Angelo, Carrera Paola, Filippi Massi |
Genetic and clinical characteristics of ALS patients with NEK1 gene variants. Neurobiology of aging 2022 11 123 191-199. Jiang Qirui, Lin Junyu, Wei Qianqian, Li Chunyu, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Liu Kuncheng, Yang Tianmi, Xiao Yi, Hadano Shinji, Shang Huifa |
Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import. Science advances 2023 8 9 (33): eadi5548. Jacob R Mann, Elizabeth D McKenna, Darilang Mawrie, Vasileios Papakis, Francesco Alessandrini, Eric N Anderson, Ryan Mayers, Hannah E Ball, Evan Kaspi, Katherine Lubinski, Desiree M Baron, Liana Tellez, John E Landers, Udai B Pandey, Evangelos Kiskin |
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 |
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 10 1-11. Cathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, Kristian Tveten, Trygve Holmøy, Ole-Bjørn Tysnes, Helle Høy |
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics 2024 9 . Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Rat |
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 |
Association between NEK1 gene polymorphisms and the potential risk of sporadic Parkinson's disease in the Chinese Northern Han population: A case-control study. Neuroscience letters 2024 7 837 137913. Qiqing He, Yuting Zhou, Jianing Jin, Qing Tian, Han Li, Binghui Hou, Anmu X |
Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis. Brain pathology (Zurich, Switzerland) 2024 7 e13287. Olivia M Rifai, Fergal M Waldron, Danah Sleibi, Judi O'Shaughnessy, Danielle J Leighton, Jenna M Grego |
Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. Journal of neurology 2024 6 . Dongchao Shen, Xunzhe Yang, Di He, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying C |
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