Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Dementia and OPTN[original query] |
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| Extensive genetics of ALS: a population-based study in Italy. Neurology 2012 Nov 79 (19): 1983-9. Chiò Adriano, Calvo Andrea, Mazzini Letizia, Cantello Roberto, Mora Gabriele, Moglia Cristina, Corrado Lucia, D'Alfonso Sandra, Majounie Elisa, Renton Alan, Pisano Fabrizio, Ossola Irene, Brunetti Maura, Traynor Bryan J, Restagno Gabriella, |
| Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta neuropathologica 2015 Jul 130 (1): 77-92. Pottier Cyril, Bieniek Kevin F, Finch NiCole, van de Vorst Maartje, Baker Matt, Perkersen Ralph, Brown Patricia, Ravenscroft Thomas, van Blitterswijk Marka, Nicholson Alexandra M, DeTure Michael, Knopman David S, Josephs Keith A, Parisi Joseph E, Petersen Ronald C, Boylan Kevin B, Boeve Bradley F, Graff-Radford Neill R, Veltman Joris A, Gilissen Christian, Murray Melissa E, Dickson Dennis W, Rademakers Ro |
| 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 |
| OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 10 177 (1): 75-85. Farhan Sali M K, Gendron Tania F, Petrucelli Leonard, Hegele Robert A, Strong Michael |
| Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotrophic lateral sclerosis & frontotemporal degeneration 2018 3 19 (5-6): 469-471. Pottier Cyril, Rampersaud Evadnie, Baker Matt, Wu Gang, Wuu Joanne, McCauley Jacob L, Zuchner Stephan, Schule Rebecca, Bermudez Christin, Hussain Sumaira, Cooley Anne, Wallace Marielle, Zhang Jinghui, Taylor J Paul, Benatar Michael, Rademakers Ro |
| C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
| Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia. Annals of clinical and translational neurology 2019 12 6 (12): 2377-2383. Feng Shu-Man, Che Chun-Hui, Feng Shu-Yan, Liu Chang-Yun, Li Liu-Yi, Li Yuan-Xiao, Huang Hua-Pin, Zou Zhang- |
| Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
| The role of genetics in neurodegenerative dementia: a large cohort study in South China. NPJ genomic medicine 2021 8 6 (1): 69. Jiao Bin, Liu Hui, Guo Lina, Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Zhou Lu, Wang Xin, Jiang Yaling, Yang Qijie, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Yan Xinxiang, Li Jinchen, Tang Beisha, Shen |
| Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. Frontiers in neurology 2022 13 886379. Tábuas-Pereira Miguel, Santana Isabel, Gibbons Elizabeth, Paquette Kimberly, Almeida Maria Rosário, Baldeiras Inês, Bras Jose, Guerreiro Ri |
| Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
| C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort. Annals of clinical and translational neurology 2023 2 . Tan Yi Jayne, Yong Alisa C W, Foo Jia Nee, Lian Michelle M, Lim Weng Khong, Dominguez Jacqueline, Fong Zhi Hui, Narasimhalu Kaavya, Chiew Hui Jin, Ng Kok Pin, Ting Simon K S, Kandiah Nagaendran, Ng Adeline S |
| 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 |
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