Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 96 Records) |
Query Trace: OPTN[original query] |
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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 |
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 |
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 |
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family. International journal of ophthalmology 2018 3 11 (3): 369-374. Yao Yi-Hua, Wang Ya-Qin, Fang Wei-Fang, Zhang Liu, Yang Ju-Hua, Zhu Yi-H |
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 |
Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients. Disease markers 2019 2019 5820537. He Jing Na, Lu Shiyao, Chen Li Jia, Tam Pancy Oi Sin, Zhang Bi Ning, Leung Christopher Kai Shun, Pang Chi Pui, Tham Clement Chee Yung, Chu Wai K |
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 |
Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma. Systems biology in reproductive medicine 2019 4 65 (3): 258-263. Ji Xingzhe, Zhang Zhou, Shi Juanzi, He B |
Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis. Investigative ophthalmology & visual science 2019 Mar 60 (4): 1105-1121. Chen Min, Yu Xiaoning, Xu Jia, Ma Jian, Chen Xinyi, Chen Binbin, Gu Yuxiang, Wang Kaij |
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 |
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 |
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 |
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 |
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 |
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 |
New insights into genetics underlying of plumage color. Animal genetics 2021 12 53 (1): 80-93. Davoodi P, Ehsani A, Vaez Torshizi R, Masoudi A |
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 |
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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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