Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease 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 |
| Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiology of disease 2012 Dec 48 (3): 391-8. González-Pérez Paloma, Lu Yubing, Chian Ru-Ju, Sapp Peter C, Tanzi Rudolph E, Bertram Lars, McKenna-Yasek Diane, Gao Fen-Biao, Brown Robert |
| 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, |
| 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 |
| 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 |
| 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 |
| A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain : a journal of neurology 2017 Jun 140 (6): 1611-1618. Morgan Sarah, Shatunov Aleksey, Sproviero William, Jones Ashley R, Shoai Maryam, Hughes Deborah, Al Khleifat Ahmad, Malaspina Andrea, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Sidle Katie, Orrell Richard W, Fratta Pietro, Hardy John, Pittman Alan, Al-Chalabi Amm |
| The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. Clinical genetics 2017 Jan . McCann Emily P, Williams Kelly L, Fifita Jennifer A, Tarr Ingrid S, O'Connor Jody, Rowe Dominic B, Nicholson Garth A, Blair Ian |
| 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 |
| 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 |
| Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
| 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 |
| Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
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