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Query Trace: Leber Hereditary Optic Neuropathy[original query] |
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Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. Molecular vision 2013 19 292-302. Chen Yabin, Jia Xiaoyun, Wang Panfeng, Xiao Xueshan, Li Shiqiang, Guo Xiangming, Zhang Qingjio |
[A clinical study of Leber hereditary optic neuropathy]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2012 Dec 48 (12): 1065-8. Wei Qi-Ping, Sun Yan-Hong, Zhou Xiang-tian, Zhou Jian, Gong Xiao-hong, Jia Xiao-y |
Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy. Molecular vision 2014 20 334-40. Romero Pablo, Fernández Verónica, Slabaugh Mark, Seleme Nicolás, Reyes Nury, Gallardo Patricia, Herrera Luisa, Peña Luis, Pezo Patricio, Moraga Mauric |
Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy. Molecular vision 2016 22 1024-35. Miranda Paulo Maurício do Amôr Divino, Matilde da Silva-Costa Sueli, Balieiro Juliane Cristina, Fernandes Marcela Scabello Amaral, Alves Rogério Marins, Guerra Andrea Trevas Maciel, Marcondes Ana Maria, Sartorato Edi Lúc |
Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans. Molecular vision 2016 22 454-71. Collins David W, Gudiseva Harini V, Trachtman Benjamin, Bowman Anita S, Sagaser Anna, Sankar Prithvi, Miller-Ellis Eydie, Lehman Amanda, Addis Victoria, O'Brien Joan |
Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population. Investigative ophthalmology & visual science 2016 Mar 57 (3): 1370-5. Rosenberg Thomas, Nørby Søren, Schwartz Marianne, Saillard Juliette, Magalhães Paulo J, Leroy David, Kann Erik C, Duno Mort |
A Meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis. International journal of ophthalmology 2016 9 (10): 1493-1498. Guo Dong-Yu, Wang Xia-Wei, Hong Nan, Gu Yang-Sh |
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PloS one 2017 1 12 (1): e0170090. Li Yadi, Li Jie, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangmi |
Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 2018 7 120 89-97. López-Gallardo Ester, Emperador Sonia, Hernández-Ainsa Carmen, Montoya Julio, Bayona-Bafaluy M Pilar, Ruiz-Pesini Eduar |
Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Journal of ophthalmology 2018 1 2017 6186052. Gan Dekang, Li Mengwei, Wu Jihong, Sun Xinghuai, Tian Guoho |
Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 2019 10 30 (8): 819-824. Dokrungkoon Thanadon, Onsod Preyaporn, Areesirisuk Prapatsorn, Rerkamnuaychoke Budsaba, Vanikieti Kavin, Chareonsirisuthigul Tak |
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features. Mitochondrion 2020 8 54 128-132. Marotta Rosetta, Chin Judy, Chiotis Maria, Shuey Neil, Collins Steven |
Mitochondrial genome variation in male LHON patients with the m.11778G?>?A mutation. Metabolic brain disease 2020 8 35 (8): 1317-1327. Piotrowska-Nowak Agnieszka, Krawczy?ski Maciej R, Kosior-Jarecka Ewa, Ambroziak Anna M, Korwin Magdalena, O?dak Monika, To?ska Katarzyna, Bartnik E |
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy. Translational vision science & technology 2020 Jul 9 (8): 11. Li Jian-Kang, Li Wei, Gao Feng-Juan, Qu Shou-Fang, Hu Fang-Yuan, Zhang Sheng-Hai, Li Li-Li, Wang Zi-Wei, Qiu Yong, Wang Lu-Sheng, Huang Jie, Wu Ji-Hong, Chen Fa |
A Single-Arm, Prospective, Exploratory Study to Preliminarily Test Effectiveness and Safety of Skin Electrical Stimulation for Leber Hereditary Optic Neuropathy. Journal of clinical medicine 2020 5 9 (5): . Kurimoto Takuji, Ueda Kaori, Mori Sotaro, Kamada Seiko, Sakamoto Mari, Yamada-Nakanishi Yuko, Matsumiya Wataru, Nakamura Mako |
Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 2 40 (1): 30-36. Cui Shilei, Yang Ling, Jiang Hanqiu, Peng Jingting, Shang Jun, Wang Jiawei, Zhang Xiaoj |
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. Ophthalmic genetics 2021 4 42 (4): 440-445. Vandeputte Justine, Van Heetvelde Mattias, Van Cauwenbergh Caroline, Seneca Sara, De Baere Elfride, Leroy Bart P, De Zaeytijd Jul |
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology. BMC medical genomics 2021 3 14 (1): 92. Bai Zhouxian, Xie Yanchuan, Liu Lina, Shao Jingzhi, Liu Yuying, Kong Xiangdo |
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study. Orphanet journal of rare diseases 2022 8 17 (1): 310. Zibold Julia, von Livonius Bettina, Kolarova Hana, Rudolph Günter, Priglinger Claudia S, Klopstock Thomas, Catarino Claudia |
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low? American journal of human genetics 2022 12 110 (1): 170-176. Mackey David A, Ong Jue-Sheng, MacGregor Stuart, Whiteman David C, Craig Jamie E, Lopez Sanchez M Isabel G, Kearns Lisa S, Staffieri Sandra E, Clarke Linda, McGuinness Myra B, Meteoukki Wafaa, Samuel Sona, Ruddle Jonathan B, Chen Celia, Fraser Clare L, Harrison John, Howell Neil, Hewitt Alex |
Low disease risk and penetrance in Leber hereditary optic neuropathy. American journal of human genetics 2022 12 110 (1): 166-169. Watson Eloise C, Davis Ryan L, Ravishankar Shyamsundar, Copty Joseph, Kummerfeld Sarah, Sue Carolyn |
Randomized trial of bilateral gene therapy injection for m.11778G?>?A MT-ND4 Leber optic neuropathy. Brain : a journal of neurology 2022 11 . Newman Nancy J, Yu-Wai-Man Patrick, Subramanian Prem S, Moster Mark L, Wang An-Guor, Donahue Sean P, Leroy Bart P, Carelli Valerio, Biousse Valerie, Vignal-Clermont Catherine, Sergott Robert C, Sadun Alfredo A, Fernández Gema Rebolleda, Chwalisz Bart K, Banik Rudrani, Bazin Fabienne, Roux Michel, Cox Eric D, Taiel Magali, Sahel José-Alain, |
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain : a journal of neurology 2022 11 146 (2): 455-460. Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, , Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patriz |
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India. Molecular vision 2022 1 27 718-724. Sundaramurthy Srilekha, Selvakumar Ambika, Dharani Vidhya, Soumittra Nagasamy, Mani Jayaprakash, Thirumalai Karthiyayini, Periyasamy Porkodi, Mathavan Sinnakaruppan, Sripriya Sarangapa |
Diagnostic Yield of Investigations in Symmetric Optic Neuropathy. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2023 8 . Armin Handzic, Jim S Xie, Edward A Margol |
Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset. Genes 2023 6 14 (6): . Yuxi Zheng, Xiaoyun Jia, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang, Panfeng Wa |
Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON). PloS one 2023 2 18 (2): e0275703. Buonfiglio Paula I, Menazzi Sebastián, Francipane Liliana, Lotersztein Vanesa, Ferreiro Verónica, Elgoyhen Ana Belén, Dalamón Vivia |
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals. Frontiers in neurology 2023 12 14 1292320. Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F Chinnery, Catarina Olimpio, Rita Horva |
Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts. Annals of Indian Academy of Neurology 2023 1 25 (Suppl 2): S65-S69. Wilson Vinny, Kaur Prabhjit, Singh Sofia, Ramachandran Radhika P, Jyothi Vislavath, Mahesh Karthik V, Takkar Aastha, Chandak Giriraj, Singh Ramande |
Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy. The British journal of ophthalmology 2024 1 . Xintong Xu, Huanfen Zhou, Mingming Sun, Yuyu Li, Biyue Chen, Xiyun Chen, Quangang Xu, Patrick Yu-Wai-Man, Shihui W |
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- Page last updated:Apr 22, 2024
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