Found: 6
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Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
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- Article
POLRMT mutations impair mitochondrial transcription causing neurological disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21279-0
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- Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294
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- Article
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 10, p. 1743, doi. 10.1093/hmg/ddy080
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- Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
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- Article
Characterization of the BspA and Pmp protein family of trichomonads.
- Published in:
- Parasites & Vectors, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13071-019-3660-z
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- Article