Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Sclerosis and SETX[original query] |
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| 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 |
| 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 |
| Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci. Neurology. Genetics 2016 Jun 2 (3): e71. He Fang, Jones Julie M, Figueroa-Romero Claudia, Zhang Dapeng, Feldman Eva L, Goutman Stephen A, Meisler Miriam H, Callaghan Brian C, Todd Peter |
| 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 |
| [Screening of the SETX gene in sporadic amyotrophic lateral sclerosis patients of Chinese origin]. Zhonghua yi xue za zhi 2018 9 98 (33): 2628-2631. Zhang H, Liang J L, Chen S Y, Wang Z J, Yang F, Cui F, Ren Y T, Liu W X, Sun Z S, Huang X |
| A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis. Brain and behavior 2018 7 8 (9): e01066. Ma Limin, Shi Yingying, Chen Zhongcan, Li Shujian, Zhang Jiew |
| Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
| 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 |
| Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 2019 2 20 (1): 27-38. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Ziora-Jakutowicz Karolina, Rakowicz Maria, Sobanska Anna, Pilch Jacek, Antczak-Marach Dorota, Zaremba Jacek, Sulek An |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, , |
| [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 |
| An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant. Journal of neuropathology and experimental neurology 2023 6 . Masataka Nakamura, Makoto Nishii, Kodai Kume, Hideshi Kawakami, Yusuke Yakushi |
| 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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