Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Disease and SETX[original query] |
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| Senataxin mutations and amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010 12 12 (3): 223-7. Hirano Michio, Quinzii Catarina M, Mitsumoto Hiroshi, Hays Arthur P, Roberts J Kirk, Richard Patricia, Rowland Lewis |
| 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 |
| Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. BioMed research international 2014 2014 210401. Høyer Helle, Braathen Geir J, Busk Øyvind L, Holla Øystein L, Svendsen Marit, Hilmarsen Hilde T, Strand Linda, Skjelbred Camilla F, Russell Michael |
| Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. The Chinese journal of physiology 2014 Apr 57 (2): 83-9. Shen Che-Piao, Lin Wei-Yong, Lin Ting-Fang, Wang Wen-Fu, Tsai Chon-Haw, Hsu Ban-Dar, Huang Chih-Yang, Liu Hsin-Ping, Tsai Fuu-J |
| Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Mar 1-4. Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
| Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis. Neurobiology of aging 2017 05 53 194.e1-194.e8. Nishiyama Ayumi, Niihori Tetsuya, Warita Hitoshi, Izumi Rumiko, Akiyama Tetsuya, Kato Masaaki, Suzuki Naoki, Aoki Yoko, Aoki Masas |
| Genetic analysis of neurodegenerative diseases in a pathology cohort. Neurobiology of aging 2018 12 76 214.e1-214.e9. Blauwendraat Cornelis, Pletnikova Olga, Geiger Joshua T, Murphy Natalie A, Abramzon Yevgeniya, Rudow Gay, Mamais Adamantios, Sabir Marya S, Crain Barbara, Ahmed Sarah, Rosenthal Liana S, Bakker Catherine C, Faghri Faraz, Chia Ruth, Ding Jinhui, Dawson Ted M, Pantelyat Alexander, Albert Marilyn S, Nalls Mike A, Resnick Susan M, Ferrucci Luigi, Cookson Mark R, Hillis Argye E, Troncoso Juan C, Scholz Sonja |
| Association of specific gene mutations derived from machine learning with survival in lung adenocarcinoma. PloS one 2018 13 (11): e0207204. Cho Han-Jun, Lee Soonchul, Ji Young Geon, Lee Dong Hye |
| 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 |
| Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China. Neurobiology of aging 2020 Aug . Yang Lu, Cheng Yanfei, Jia Xinmiao, Liu Xudong, Li Xiuli, Zhang Kang, Shen Dongchao, Liu Mingsheng, Guan Yuzhou, Liu Qing, Cui Liying, Li Xiaogua |
| The NGS technology for the identification of genes associated with the ALS. A systematic review. European journal of clinical investigation 2020 4 50 (5): e13228. Pecoraro Valentina, Mandrioli Jessica, Carone Chiara, Chiò Adriano, Traynor Bryan J, Trenti Tomma |
| Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
| Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4. Annals of neurology 2020 1 87 (4): 547-555. Grunseich Christopher, Patankar Aneesh, Amaya Joshua, Watts Jason A, Li Dongjun, Ramirez Prisila, Schindler Alice B, Fischbeck Kenneth H, Cheung Vivian |
| Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Frontiers in aging neuroscience 2021 11 13 745407. Sun Lin, Zhang Jianye, Su Ning, Zhang Shaowei, Yan Feng, Lin Xiang, Yu Jie, Li Wei, Li Xia, Xiao Shi |
| 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 |
| Fertility Does Not Alter Disease Progression in ALS Patients of Childbearing Age: A Three Centers Retrospective Analysis in Southern China. Frontiers in neurology 2022 7 13 895321. Yang Biying, Huang Sen, Zheng Yu, Hou Xiaomei, Lin Jianing, Peng Yu, Du Baoxin, Yao Xiao |
| High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. American journal of medical genetics. Part A 2022 4 188 (7): 2082-2095. Munabi Naikhoba C O, Mikhail Shady, Toubat Omar, Webb Michelle, Auslander Allyn, Sanchez-Lara Pedro A, Manojlovic Zarko, Schmidt Ryan J, Craig David, Magee William P, Kumar Subramanyan R |
| A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. Brain sciences 2022 2 12 (2): . Chiang Ping-I, Liao Ting-Wei, Chen Chiung-M |
| Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
| VariantSurvival: a tool to identify genotype-treatment response. Frontiers in bioinformatics 2023 10 3 1277923. Thomas Krannich, Marina Herrera Sarrias, Hiba Ben Aribi, Moustafa Shokrof, Alfredo Iacoangeli, Ammar Al-Chalabi, Fritz J Sedlazeck, Ben Busby, Ahmad Al Khleif |
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