Human Genome Epidemiology Literature Finder
Filtered By: |
Previous |
Records 1 - 20 (of 20 Records) |
Query Trace: Amyotrophic Lateral Sclerosis and SETX[original query] |
---|
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 |
[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 |
- Page last reviewed:Feb 1, 2024
- Content source: