Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Disease and NEK1[original query] |
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| Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. Cancer letters 2015 Nov . Smith Alyssa L, Alirezaie Najmeh, Connor Ashton, Chan-Seng-Yue Michelle, Grant Robert, Selander Iris, Bascuñana Claire, Borgida Ayelet, Hall Anita, Whelan Thomas, Holter Spring, McPherson Treasa, Cleary Sean, Petersen Gloria M, Omeroglu Atilla, Saloustros Emmanouil, McPherson John, Stein Lincoln D, Foulkes William D, Majewski Jacek, Gallinger Steven, Zogopoulos Geor |
| 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 |
| Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiology of aging 2016 Dec . Black Holly A, Leighton Danielle J, Cleary Elaine M, Rose Elaine, Stephenson Laura, Colville Shuna, Ross David, Warner Jon, Porteous Mary, Gorrie George H, Swingler Robert, Goldstein David, Harms Matthew B, Connick Peter, Pal Suvankar, Aitman Timothy J, Chandran Siddharth |
| 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 |
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 |
| 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 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 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 |
| Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland. Journal of neurology 2024 6 . Danielle J Leighton, Morad Ansari, Judith Newton, Elaine Cleary, Laura Stephenson, Emily Beswick, Javier Carod Artal, Richard Davenport, Callum Duncan, George H Gorrie, Ian Morrison, Robert Swingler, Ian J Deary, Mary Porteous, Siddharthan Chandran, Suvankar Pal, |
| 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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