线粒体DNA 8344A＞G突变导致线粒体遗传病的研究进展和防治策略.
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- Journal of International Reproductive Health/Family Planning, 2023, v. 42, n. 6, p. 471, doi. 10.12280/gjszjk.20230358
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- Article
Works matching Myoclonic epilepsy associated with ragged red fibers (MERRF)
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Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF.
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- Muscle & Nerve, 1994, v. 17, n. 8, p. 943, doi. 10.1002/mus.880170815
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- Article
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"Myo-neuropathy" is commonly associated with mitochondrial tRNA<sup>Lysine</sup> mutation.
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- Journal of Neurology, 2020, v. 267, n. 11, p. 3319, doi. 10.1007/s00415-020-10017-z
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- Article
4
Expanded phenotypic spectrum of the m.8344A>G 'MERRF' mutation: data from the German mitoNET registry.
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- Journal of Neurology, 2016, v. 263, n. 5, p. 961, doi. 10.1007/s00415-016-8086-3
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- Article
5
OrphanAnesthesia: Handlungsempfehlungen zur Anästhesie bei Mitochondriopathien Morbus Hurler.
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- Anaesthesiologie & Intensivmedizin, 2021, v. 62, n. 7/8, p. 324
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- Article
6
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1867, doi. 10.1093/hmg/ddt040
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- Article
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MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.
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- Molecular Therapy, 2015, v. 23, n. 10, p. 1592, doi. 10.1038/mt.2015.126
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- Article
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Fibrous Dysplasia in a Child With Mitochondrial A8344G Mutation.
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- Journal of Child Neurology, 2008, v. 23, n. 12, p. 1447, doi. 10.1177/0883073808318541
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- Article