Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: ALS2[original query] |
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Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. Neurological research 2003 Jul 25 (5): 505-9. Nagano Isao, Murakami Tetsuro, Shiote Mito, Manabe Yasuhiro, Hadano Shinji, Yanagisawa Yoshiko, Ikeda Joh-E, Abe Ko |
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 |
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing. Neurobiology of aging 2015 Sep . Kim Hee-Jung, Oh Ki-Wook, Kwon Min-Jung, Oh Seong-Il, Park Jin-Seok, Kim Young-Eun, Choi Byung-Ok, Lee Seungbok, Ki Chang-Seok, Kim Seung Hy |
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 |
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Neurogenetics 2018 4 19 (2): 111-121. Travaglini Lorena, Aiello Chiara, Stregapede Fabrizia, D'Amico Adele, Alesi Viola, Ciolfi Andrea, Bruselles Alessandro, Catteruccia Michela, Pizzi Simone, Zanni Ginevra, Loddo Sara, Barresi Sabina, Vasco Gessica, Tartaglia Marco, Bertini Enrico, Nicita Frances |
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
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 |
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. Neurobiology of aging 2022 Aug 120 27-33. Kacem Imen, Sghaier Ikram, Peverelli Silvia, Souissi Emira, Ticozzi Nicola, Gharbi Alya, Ratti Antonia, Berrechid Amina Gargouri, Silani Vincenzo, Gouider Ria |
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1894. Mosallaei Meysam, Ehtesham Naeim, Beheshtian Maryam, Khoshbakht Shahrouz, Davarnia Behzad, Kahrizi Kimia, Najmabadi Hosse |
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