Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: DCTN1[original query] |
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Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004 Aug 63 (4): 724-6. Münch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld A D, Kurt A, Prudlo J, Peraus G, Hanemann C O, Stumm G, Ludolph A |
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. Acta neurologica Scandinavica 2007 Oct 116 (4): 231-4. Münch C, Meyer R, Linke P, Meyer T, Ludolph A C, Haas J, Hemmer |
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 |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PloS one 2017 8 12 (8): e0181791. Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh |
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 |
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients. Neurogenetics 2019 8 20 (4): 197-208. Narain Priyam, Padhi Aditya K, Dave Upma, Mishra Dibyakanti, Bhatia Rohit, Vivekanandan Perumal, Gomes Jam |
Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations. Journal of neurology, neurosurgery, and psychiatry 2019 3 90 (6): 659-665. Ryan Marie, Zaldívar Vaillant Tatiana, McLaughlin Russell L, Doherty Mark A, Rooney James, Heverin Mark, Gutierrez Joel, Lara-Fernández Gloria Esther, Pita Rodríguez Mariana, Hackembruch Jochen, Perna Abayubá, Vazquez Maria Cristina, Musio Marco, Ketzoian Carlos N, Logroscino Giancarlo, Hardiman Or |
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 |
Neuropathological findings in a South Korean patient with Perry syndrome. Clinical neuropathology 2019 12 39 (2): 80-85. Chung Eun Joo, Kim Sang Jin, Kim Eun-Joo, Ahn Jae Woo, Huh Gi Yeong, Cho Hwa Jin, Cairns Nigel |
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. Neurobiology of aging 2020 Apr . Procopio Radha, Gagliardi Monica, D'Amelio Marco, Brighina Laura, Nicoletti Giuseppe, Morelli Maurizio, Bonapace Giuseppe, Quattrone Aldo, Annesi Graz |
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 |
SOD1-related ALS with anticipation in a large family from Martinique. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 3 22 (7-8): 545-551. Giguet-Valard Anna-Gaelle, Bellance Rémi, Jeannin Séverine, Duclos Sophie, Olive Pascale, Allard-Saint-Albin Oriane, Cazeneuve Cécile, Clot Fabienne, Sophie Pittion-Vouyovitch, Barnetche Thomas, Smith-Ravin Juliette, Goizet Cyr |
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 |
Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. Frontiers in neurology 2022 13 886379. Tábuas-Pereira Miguel, Santana Isabel, Gibbons Elizabeth, Paquette Kimberly, Almeida Maria Rosário, Baldeiras Inês, Bras Jose, Guerreiro Ri |
Genetics of progressive supranuclear palsy in a Chinese population. Neurobiology of disease 2022 Jul 172 105819. Xiao Xuewen, Yang Qijie, Wen Yafei, Jiao Bin, Liao Xinxin, Zhou Yafang, Weng Ling, Liu Hui, Xu Tianyan, Zhu Yuan, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Bi Xiangyun, Liu Yingzi, Zhang Sizhe, Zhang Weiwei, Li Jinchen, Tang Beisha, Shen |
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
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 and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background. Frontiers in endocrinology 2023 1 13 1039494. Eng Zing Hong, Abdullah Mardiaty Iryani, Ng Khoon Leong, Abdul Aziz Azlina, Arba'ie Nurul Hannis, Mat Rashid Nurullainy, Mat Junit Sar |
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- Page last updated:Apr 22, 2024
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