Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Dementia and UBQLN2[original query] |
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| Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiology of aging 2012 Dec 33 (12): 2949.e13-7. Synofzik Matthis, Maetzler Walter, Grehl Torsten, Prudlo Johannes, Vom Hagen Jennifer Müller, Haack Tobias, Rebassoo Piret, Munz Marita, Schöls Ludger, Biskup Sask |
| Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. Journal of neurology, neurosurgery, and psychiatry 2013 Feb 84 (2): 183-7. Gellera Cinzia, Tiloca Cinzia, Del Bo Roberto, Corrado Lucia, Pensato Viviana, Agostini Jennifer, Cereda Cristina, Ratti Antonia, Castellotti Barbara, Corti Stefania, Bagarotti Alessandra, Cagnin Annachiara, Milani Pamela, Gabelli Carlo, Riboldi Giulietta, Mazzini Letizia, Sorarù Gianni, D'Alfonso Sandra, Taroni Franco, Comi Giacomo Pietro, Ticozzi Nicola, Silani Vincenzo, |
| Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis. Neurobiology of aging 2014 Aug 35 (8): 1957.e7-8. Kim Hee-Jung, Kwon Min-Jung, Choi Won-Jun, Oh Ki-Wook, Oh Seong-Il, Ki Chang-Seok, Kim Seung Hy |
| Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2016 Apr 40 191.e11-191.e16. Tsai Pei-Chien, Liu Yi-Chien, Lin Kon-Ping, Liu Yo-Tsen, Liao Yi-Chu, Hsiao Cheng-Tsung, Soong Bing-Wen, Yip Ping-Keung, Lee Yi-Chu |
| The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
| Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis. Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
| No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population. PloS one 2017 12 (1): e0170943. Huang Xiao, Shen Shen, Fan Dongshe |
| Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration. Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
| [Association between rare UBQLN2 variants and amyotrophic lateral sclerosis in Chinese population]. Zhonghua yi xue za zhi 2021 3 101 (12): 846-850. Chen J Y, Liu X Y, Xu Y S, Fan D |
| 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 |
| Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia. Orphanet journal of rare diseases 2022 11 17 (1): 404. Yang Xunzhe, Sun Xiaohai, Liu Qing, Liu Liyang, Li Jinyue, Cai Zhengyi, Zhang Kang, Liu Shuangwu, He Di, Shen Dongchao, Liu Mingsheng, Cui Liying, Zhang X |
| Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Alzheimer's research & therapy 2024 6 16 (1): 127. Haitian Nan, Yeon-Jeong Kim, Min Chu, Dan Li, Jieying Li, Deming Jiang, Yiming Wu, Toshihisa Ohtsuka, Liyong |
- Page last reviewed:Feb 1, 2024
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