Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Disease and DCTN1[original query] |
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| Characterization of DCTN1 genetic variability in neurodegeneration. Neurology 2009 Jun 72 (23): 2024-8. Vilariño-Güell C, Wider C, Soto-Ortolaza A I, Cobb S A, Kachergus J M, Keeling B H, Dachsel J C, Hulihan M M, Dickson D W, Wszolek Z K, Uitti R J, Graff-Radford N R, Boeve B F, Josephs K A, Miller B, Boylan K B, Gwinn K, Adler C H, Aasly J O, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin M-C, Ross O A, Rademakers R, Farrer M |
| Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiology of aging 2014 Dec 35 (12): 2881.e11-5. Liu Zhi-Jun, Li Hong-Fu, Tan Guo-He, Tao Qing-Qing, Ni Wang, Cheng Xue-Wen, Xiong Zhi-Qi, Wu Zhi-Yi |
| Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies. Clinical genetics 2015 Dec . Tey Shelisa, Ahmad-Annuar Azlina, Drew Alexander P, Shahrizaila Nortina, Nicholson Garth A, Kennerson Marina |
| Defining neurodegeneration on Guam by targeted genomic sequencing. Annals of neurology 2015 Mar 77 (3): 458-68. Steele John C, Guella Ilaria, Szu-Tu Chelsea, Lin Michelle K, Thompson Christina, Evans Daniel M, Sherman Holly E, Vilariño-Güell Carles, Gwinn Katrina, Morris Huw, Dickson Dennis W, Farrer Matthew |
| Evaluation of the dynactin 1 gene in Leonbergers and Labrador Retrievers with laryngeal paralysis. American journal of veterinary research 2016 Oct 77 (10): 1114-20. Holt David E, Brown Dorothy C, Henthorn Paula |
| DCTN1 p.K56R in progressive supranuclear palsy. Parkinsonism & related disorders 2016 Apr . Gustavsson Emil K, Trinh Joanne, Guella Ilaria, Szu-Tu Chelsea, Khinda Jaskaran, Lin Chin-Hsien, Wu Ruey-Meei, Stoessl Jon, Appel-Cresswell Silke, McKeown Martin, Rajput Alex, Rajput Ali H, Petersen Maria Skaalum, Jeon Beom S, Aasly Jan O, Farrer Matthew |
| DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis. PloS one 2017 12 (8): e0182572. Liu Xiangyi, Yang Lipeng, Tang Lu, Chen Lu, Liu Xiaolu, Fan Dongshe |
| Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China. Science China. Life sciences 2019 3 62 (4): 517-525. Wei Qianqian, Chen Xueping, Chen Yongping, Ou Ruwei, Cao Bei, Hou Yanbing, Zhang Lingyu, Shang Hui-Fa |
| 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 |
| 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 |
| Resistance Profile of Osimertinib in Pre-treated Patients With EGFR T790M-Mutated Non-small Cell Lung Cancer. Frontiers in oncology 2021 5 11 602924. Fernandes Maria Gabriela O, Sousa Catarina, Jacob Maria, Almeida Leonor, Santos Vanessa, Araújo David, Novais Bastos Hélder, Magalhães Adriana, Cirnes Luís, Moura Conceição Souto, Queiroga Henrique, Cruz-Martins Natália, Hespanhol Vencesl |
| Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series. Geriatrics (Basel, Switzerland) 2021 2 6 (1): . Hori Atsushi, Ai Tomohiko, Isshiki Miwa, Motoi Yumiko, Yano Kouji, Tabe Yoko, Hattori Nobutaka, Miida Takas |
| Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG 2021 1 29 (4): 604-614. Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben |
| 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 |
| The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
| Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia. Heliyon 2024 6 10 (11): e31885. Rui Wu, Wen-Tian Chen, Wei-Kang Dou, Hui-Min Zhou, Ming S |
| Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population. Journal of Alzheimer's disease : JAD 2024 5 . Yaoru Li, Ziying Yang, Yanxin Zhang, Fang Liu, Jing Xu, Yaping Meng, Gebeili Xing, Xuqin Ruan, Jun Sun, Nan Zha |
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