Literature DB >> 34120304

tRNA variants causing Leber's hereditary optic neuropathy?

Josef Finsterer1.   

Abstract

Entities:  

Keywords:  Cortical cysts; Laminar cortical necrosis; MELAS; Stroke-like episode; Stroke-like lesion

Mesh：

Substances：

Year:  2021        PMID： 34120304     DOI： 10.1007/s11845-021-02680-6

Source DB:  PubMed          Journal:  Ir J Med Sci        ISSN： 0021-1265            Impact factor:   2.089


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  5 in total

1.  Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene.

Authors:  Xiaowan Chen; Zhipeng Nie; Fang Wang; Jianchao Wang; Xiao-Wen Liu; Jing Zheng; Yu-Fen Guo; Min-Xin Guan
Journal:  Mitochondrion       Date:  2017-06-01       Impact factor: 4.160

Review 2.  MERRF Classification: Implications for Diagnosis and Clinical Trials.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub; John M Shoffner
Journal:  Pediatr Neurol       Date:  2017-12-13       Impact factor: 3.372

3.  A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.

Authors:  Kimberly A Kripps; Marisa W Friederich; Ting Chen; Austin A Larson; David M Mirsky; Yue Wang; Kurenai Tanji; Kaz M Knight; Lee-Jun Wong; Johan L K Van Hove
Journal:  Mol Genet Metab       Date:  2020-11-24       Impact factor: 4.797

4.  Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.

Authors:  Yu Dai; Chenghui Wang; Zhipeng Nie; Jiamin Han; Ting Chen; Xiaoxu Zhao; Cheng Ai; Yanchun Ji; Tao Gao; Pingping Jiang
Journal:  Biomed Rep       Date:  2017-11-08

5.  Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy.

Authors:  Jie Shuai; Jian Shi; Ya Liang; Fangfang Ji; Luo Gu; Zhilan Yuan
Journal:  Ir J Med Sci       Date:  2021-05-29       Impact factor: 1.568
  5 in total

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