Human Genome Epidemiology Literature Finder
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Query Trace: Amyotrophic Lateral Sclerosis and PFN1[original query] |
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A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. Neurobiology of aging 2013 Jun 34 (6): 1708.e1-6. Ingre Caroline, Landers John E, Rizik Naji, Volk Alexander E, Akimoto Chizuru, Birve Anna, Hübers Annemarie, Keagle Pamela J, Piotrowska Katarzyna, Press Rayomand, Andersen Peter Munch, Ludolph Albert C, Weishaupt Jochen |
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. Neurobiology of aging 2013 May 34 (5): 1517.e9-10. Tiloca Cinzia, Ticozzi Nicola, Pensato Viviana, Corrado Lucia, Del Bo Roberto, Bertolin Cinzia, Fenoglio Chiara, Gagliardi Stella, Calini Daniela, Lauria Giuseppe, Castellotti Barbara, Bagarotti Alessandra, Corti Stefania, Galimberti Daniela, Cagnin Annachiara, Gabelli Carlo, Ranieri Michela, Ceroni Mauro, Siciliano Gabriele, Mazzini Letizia, Cereda Cristina, Scarpini Elio, Sorarù Gianni, Comi Giacomo P, D'Alfonso Sandra, Gellera Cinzia, Ratti Antonia, Landers John E, Silani Vincenzo, |
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. Neurobiology of aging 2013 Apr 34 (4): 1311.e1-2. Daoud Hussein, Dobrzeniecka Sylvia, Camu William, Meininger Vincent, Dupré Nicolas, Dion Patrick A, Rouleau Guy |
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 |
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotrophic lateral sclerosis & frontotemporal degeneration 2013 Sep 14 (5-6): 463-9. van Blitterswijk Marka, Baker Matthew C, Bieniek Kevin F, Knopman David S, Josephs Keith A, Boeve Bradley, Caselli Richard, Wszolek Zbigniew K, Petersen Ronald, Graff-Radford Neill R, Boylan Kevin B, Dickson Dennis W, Rademakers Ro |
PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis. Neurobiology of aging 2013 Jul 34 (7): 1922.e1-5. Chen YongPing, Zheng Zhen-Zhen, Huang Rui, Chen Ke, Song Wei, Zhao Bi, Chen XuePing, Yang Yuan, Yuan LiXing, Shang Hui-Fa |
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 2013 Dec . Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM |
Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin. Neurobiology of aging 2013 Jun 34 (6): 1713.e5-6. Zou Zhang-Yu, Sun Qing, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis. Journal of neurology 2014 Dec 261 (12): 2387-92. Syriani Enrique, Salvans Candi, Salvadó Maria, Morales Miguel, Lorenzo Laura, Cazorla Sonia, Gamez Jos |
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 |
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 |
Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis. Molecular neurobiology 2016 Apr . Zhou QingQing, Chen YongPing, Wei QianQian, Cao Bei, Wu Ying, Zhao Bi, Ou RuWei, Yang Jing, Chen XuePing, Hadano Shinji, Shang Hui-Fa |
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 |
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 |
A Familial Phenotypic and Genetic Study of Mutations in PFN1 Associated with Amyotrophic Lateral Sclerosis. Neuroscience bulletin 2019 12 36 (2): 174-178. Chi Jieshan, Chen Junling, Li Yan, Huang Zhiheng, Wang Lijuan, Zhang Yu |
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 |
Concomitant presence of a novel ARPP21 variant and CNVs in Chinese familial amyotrophic lateral sclerosis-frontotemporal dementia patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024 9 . Yiying Wang, Runqing Ju, Jingsi Jiang, Le Mao, Xiaogang Li, Min De |
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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