Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 47 Records) |
Query Trace: Sclerosis 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 |
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 |
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 |
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 |
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 |
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 |
Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
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 |
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 |
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 |
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- |
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 |
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 |
A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020 4 75 223-225. Canosa Antonio, Grassano Maurizio, Barberis Marco, Brunetti Maura, Manera Umberto, Vasta Rosario, Cammarosano Stefania, De Marco Giovanni, Calvo Andrea, Chiò Adriano, Moglia Cristi |
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 |
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay. Neurobiology of aging 2021 7 106 351.e1-351.e6. Gotkine Marc, de Majo Martina, Wong Chun Hao, Topp Simon D, Michaelson-Cohen Rachel, Epsztejn-Litman Silvina, Eiges Rachel, Y Yossef Lerner, Kanaan Moein, Shaked Hagar Mor, Alahmady Nada, Vance Caroline, Newhouse Stephen J, Breen Gerome, Nishimura Agnes L, Shaw Christopher E, Smith Bradley |
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 |
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 |
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 |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
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 |
Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis. Journal of medical genetics 2025 1 . Yi Xiao, Yushan Tan, Chunyu Li, Qianqian Wei, Qirui Jiang, Shichan Wang, Tianmi Yang, Junyu Lin, Lingyu Zhang, Huifang Sha |
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