Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 58 Records) |
| Query Trace: Disease and OPTN[original query] |
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| Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Bury Joanna J, Highley J Robin, Cooper-Knock Johnathan, Goodall Emily F, Higginbottom Adrian, McDermott Christopher J, Ince Paul G, Shaw Pamela J, Kirby Jani |
| 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 |
| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.) 2015 Mar 347 (6229): 1436-41. Cirulli Elizabeth T, Lasseigne Brittany N, Petrovski Slavé, Sapp Peter C, Dion Patrick A, Leblond Claire S, Couthouis Julien, Lu Yi-Fan, Wang Quanli, Krueger Brian J, Ren Zhong, Keebler Jonathan, Han Yujun, Levy Shawn E, Boone Braden E, Wimbish Jack R, Waite Lindsay L, Jones Angela L, Carulli John P, Day-Williams Aaron G, Staropoli John F, Xin Winnie W, Chesi Alessandra, Raphael Alya R, McKenna-Yasek Diane, Cady Janet, Vianney de Jong J M B, Kenna Kevin P, Smith Bradley N, Topp Simon, Miller Jack, Gkazi Athina, , Al-Chalabi Ammar, van den Berg Leonard H, Veldink Jan, Silani Vincenzo, Ticozzi Nicola, Shaw Christopher E, Baloh Robert H, Appel Stanley, Simpson Ericka, Lagier-Tourenne Clotilde, Pulst Stefan M, Gibson Summer, Trojanowski John Q, Elman Lauren, McCluskey Leo, Grossman Murray, Shneider Neil A, Chung Wendy K, Ravits John M, Glass Jonathan D, Sims Katherine B, Van Deerlin Vivianna M, Maniatis Tom, Hayes Sebastian D, Ordureau Alban, Swarup Sharan, Landers John, Baas Frank, Allen Andrew S, Bedlack Richard S, Harper J Wade, Gitler Aaron D, Rouleau Guy A, Brown Robert, Harms Matthew B, Cooper Gregory M, Harris Tim, Myers Richard M, Goldstein David |
| Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Oct 1-5. Li Chengyu, Ji Ying, Tang Lu, Zhang Nan, He Ji, Ye Shan, Liu Xiaolu, Fan Dongshe |
| OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. Neurology 2016 Feb 86 (5): 446-53. Goldstein Orly, Nayshool Omri, Nefussy Beatrice, Traynor Bryan J, Renton Alan E, Gana-Weisz Mali, Drory Vivian E, Orr-Urtreger A |
| Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular genetics & genomic medicine 2015 Nov 3 (6): 490-9. Schilter Kala F, Reis Linda M, Sorokina Elena A, Semina Elena |
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Nature communications 2017 Sep 8 (1): 611. Benyamin Beben, He Ji, Zhao Qiongyi, Gratten Jacob, Garton Fleur, Leo Paul J, Liu Zhijun, Mangelsdorf Marie, Al-Chalabi Ammar, Anderson Lisa, Butler Timothy J, Chen Lu, Chen Xiang-Ding, Cremin Katie, Deng Hong-Weng, Devine Matthew, Edson Janette, Fifita Jennifer A, Furlong Sarah, Han Ying-Ying, Harris Jessica, Henders Anjali K, Jeffree Rosalind L, Jin Zi-Bing, Li Zhongshan, Li Ting, Li Mengmeng, Lin Yong, Liu Xiaolu, Marshall Mhairi, McCann Emily P, Mowry Bryan J, Ngo Shyuan T, Pamphlett Roger, Ran Shu, Reutens David C, Rowe Dominic B, Sachdev Perminder, Shah Sonia, Song Sharon, Tan Li-Jun, Tang Lu, van den Berg Leonard H, van Rheenen Wouter, Veldink Jan H, Wallace Robyn H, Wheeler Lawrie, Williams Kelly L, Wu Jinyu, Wu Xin, Yang Jian, Yue Weihua, Zhang Zong-Hong, Zhang Dai, Noakes Peter G, Blair Ian P, Henderson Robert D, McCombe Pamela A, Visscher Peter M, Xu Huji, Bartlett Perry F, Brown Matthew A, Wray Naomi R, Fan Dongshe |
| 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 |
| Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis. Neurobiology of aging 2017 05 53 194.e1-194.e8. Nishiyama Ayumi, Niihori Tetsuya, Warita Hitoshi, Izumi Rumiko, Akiyama Tetsuya, Kato Masaaki, Suzuki Naoki, Aoki Yoko, Aoki Masas |
| 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 |
| Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. Biochimica et biophysica acta. Molecular basis of disease 2017 Oct . Silva Iris A L, Conceição Natércia, Gagnon Édith, Caiado Helena, Brown Jacques P, Gianfrancesco Fernando, Michou Laëtitia, Cancela M Leon |
| 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 |
| Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiology of aging 2016 Dec . Black Holly A, Leighton Danielle J, Cleary Elaine M, Rose Elaine, Stephenson Laura, Colville Shuna, Ross David, Warner Jon, Porteous Mary, Gorrie George H, Swingler Robert, Goldstein David, Harms Matthew B, Connick Peter, Pal Suvankar, Aitman Timothy J, Chandran Siddharth |
| Molecular effect of an OPTN common variant associated to Paget's disease of bone. PloS one 2018 5 13 (5): e0197543. Silva Iris A L, Conceição Natércia, Gagnon Édith, Brown Jacques P, Cancela M Leonor, Michou Laëtit |
| 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 |
| Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing. Scientific reports 2018 Mar 8 (1): 4498. Huang Chukai, Xie Lijing, Wu Zhenggen, Cao Yingjie, Zheng Yuqian, Pang Chi-Pui, Zhang Mingz |
| 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 |
| Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS. Neurobiology of aging 2019 Mar . Lattante Serena, Doronzio Paolo Niccolò, Marangi Giuseppe, Conte Amelia, Bisogni Giulia, Bernardo Daniela, Russo Tommaso, Lamberti Dante, Patrizi Sara, Apollo Francesco Paolo, Lunetta Christian, Scarlino Stefania, Pozzi Laura, Zollino Marcella, Riva Nilo, Sabatelli Mar |
| Targeted sequencing of DCSTAMP in familial Paget's disease of bone. Bone reports 2019 3 10 100198. Sultana M A, Pavlos N J, Ward Lynley, Walsh J P, Rea S |
| Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China. Science China. Life sciences 2019 3 62 (4): 517-525. Wei Qianqian, Chen Xueping, Chen Yongping, Ou Ruwei, Cao Bei, Hou Yanbing, Zhang Lingyu, Shang Hui-Fa |
| Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis. Aging and disease 2019 Dec 10 (6): 1199-1206. Liu Zhi-Jun, Lin Hui-Xia, Wei Qiao, Zhang Qi-Jie, Chen Cong-Xin, Tao Qing-Qing, Liu Gong-Lu, Ni Wang, Gitler Aaron D, Li Hong-Fu, Wu Zhi-Yi |
| Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China. Neurobiology of aging 2020 Aug . Yang Lu, Cheng Yanfei, Jia Xinmiao, Liu Xudong, Li Xiuli, Zhang Kang, Shen Dongchao, Liu Mingsheng, Guan Yuzhou, Liu Qing, Cui Liying, Li Xiaogua |
| RET, NTRK, ALK, BRAF, and MET Fusions in a Large Cohort of Pediatric Papillary Thyroid Carcinomas. Thyroid : official journal of the American Thyroid Association 2020 6 30 (12): 1771-1780. Pekova Barbora, Sykorova Vlasta, Dvorakova Sarka, Vaclavikova Eliska, Moravcova Jitka, Katra Rami, Astl Jaromir, Vlcek Petr, Kodetova Daniela, Vcelak Josef, Bendlova Be |
| The NGS technology for the identification of genes associated with the ALS. A systematic review. European journal of clinical investigation 2020 4 50 (5): e13228. Pecoraro Valentina, Mandrioli Jessica, Carone Chiara, Chiò Adriano, Traynor Bryan J, Trenti Tomma |
| 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 |
| 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 |
| Targeted copy number variant identification across the neurodegenerative disease spectrum. Molecular genetics & genomic medicine 2022 Jun e1986. Dilliott Allison A, Zhang Kristina K, Wang Jian, Abrahao Agessandro, Binns Malcolm A, Black Sandra E, Borrie Michael, Dowlatshahi Dar, Finger Elizabeth, Fischer Corinne E, Frank Andrew, Freedman Morris, Grimes David, Hassan Ayman, Jog Mandar, Kumar Sanjeev, Lang Anthony E, Mandzia Jennifer, Masellis Mario, Pasternak Stephen H, Pollock Bruce G, Rajji Tarek K, Rogaeva Ekaterina, Sahlas Demetrios J, Saposnik Gustavo, Sato Christine, Seitz Dallas, Shoesmith Christen, Steeves Thomas D L, Swartz Richard H, Tan Brian, Tang-Wai David F, Tartaglia Maria C, Turnbull John, Zinman Lorne, , Hegele Robert |
| Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia. Movement disorders : official journal of the Movement Disorder Society 2024 8 . Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad-Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng-King Tan, Shen-Yang L |
| 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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