Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: TK2[original query] |
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Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2015 Dec 26 81-85. Paramasivam Arumugam, Meena Angamuthu Kannan, Pedaparthi Lalitha, Jyothi Vuskamalla, Uppin Megha S, Jabeen Shaikh Afshan, Sundaram Challa, Thangaraj Kumarasa |
[Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 6 35 (3): 309-313. Yang Ke, Zeng Sheng, Liu Zhen, Shi Shuying, Sun Weining, Yuan Yanchun, Weng Ling, Jiang Hong, Shen Lu, Tang Beisha, Wang Junli |
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. European journal of medical genetics 2020 4 63 (8): 103898. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wu Bingbing, Wang |
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. Frontiers in neurology 2020 10 11 1000. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wang |
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. Mitochondrion 2021 1 57 205-212. Bychkov I O, Itkis Y S, Tsygankova P G, Krylova T D, Mikhaylova S V, Klyushnikov S A, Pechatnikova N L, Degtyareva A V, Nikolaeva E A, Seliverstov Y A, Kurbatov S A, Dadali E L, Rudenskaya G E, Illarioshkin S N, Zakharova E |
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. Journal of neurology 2022 3 269 (7): 3550-3562. Domínguez-González Cristina, Fernández-Torrón Roberto, Moore Ursula, de Fuenmayor-Fernández de la Hoz Carlos Pablo, Vélez-Gómez Beatriz, Cabezas Juan Antonio, Alonso-Pérez Jorge, González-Mera Laura, Olivé Montse, García-García Jorge, Moris Germán, León Hernández Juan Carlos, Muelas Nuria, Servian-Morilla Emilia, Martin Miguel A, Díaz-Manera Jordi, Paradas Carm |
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