Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis 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, |
| UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland. Neurobiology of aging 2014 Jan 35 (1): 267.e9-11. McLaughlin Russell Lewis, Kenna Kevin Patrick, Vajda Alice, Byrne Susan, Bradley Daniel G, Hardiman Or |
| Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2013 Sep 34 (9): 2235.e7-10. Yang Shu, Fifita Jennifer A, Williams Kelly L, Warraich Sadaf T, Pamphlett Roger, Nicholson Garth A, Blair Ian |
| 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 |
| Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2014 Oct 35 (10): 2423.e1-6. Soong Bing-Wen, Lin Kon-Ping, Guo Yuh-Cherng, Lin Chou-Ching K, Tsai Pei-Chien, Liao Yi-Chu, Lu Yi-Chun, Wang Shuu-Jiun, Tsai Ching-Piao, Lee Yi-Chu |
| 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 MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2015 May 36 (5): 2005.e1-4. Lin Kon-Ping, Tsai Pei-Chien, Liao Yi-Chu, Chen Wei-Ting, Tsai Ching-Piao, Soong Bing-Wen, Lee Yi-Chu |
| The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of aging 2015 Apr 36 (4): 1764.e9-18. Özo?uz Asl?han, Uyan Özgün, Birdal Güne?, Iskender Ceren, Kartal Ece, Lahut Suna, Ömür Özgür, Agim Zeynep Sena, Eken Asl? Gündo?du, Sen Nesli Ece, Kavak P?nar, Sayg? Ceren, Sapp Peter C, Keagle Pamela, Parman Ye?im, Tan Ersin, Koç Filiz, Deymeer Feza, Oflazer Piraye, Hana?as? Ha?met, Gürvit Hakan, Bilgiç Ba?ar, Durmu? Hacer, Erta? Mustafa, Kotan Dilcan, Akal?n Mehmet Ali, Güllüo?lu Halil, Zarifo?lu Mehmet, Aysal Fikret, Dö?o?lu Nilgün, Bilguvar Kaya, Günel Murat, Keskin Özlem, Akgün Tahsin, Özçelik Hilmi, Landers John E, Brown Robert H, Ba?ak A Naz |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| SOD1-related ALS with anticipation in a large family from Martinique. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 3 22 (7-8): 545-551. Giguet-Valard Anna-Gaelle, Bellance Rémi, Jeannin Séverine, Duclos Sophie, Olive Pascale, Allard-Saint-Albin Oriane, Cazeneuve Cécile, Clot Fabienne, Sophie Pittion-Vouyovitch, Barnetche Thomas, Smith-Ravin Juliette, Goizet Cyr |
| 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 factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. BMC medicine 2022 6 20 (1): 209. Su Wei-Ming, Gu Xiao-Jing, Duan Qing-Qing, Jiang Zheng, Gao Xia, Shang Hui-Fang, Chen Yong-Pi |
| 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 |
- Page last reviewed:Feb 1, 2024
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