HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
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- Page last updated:May 18, 2022
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