Found: 9
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Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 381, doi. 10.3233/JND-221552
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- Publication type:
- Article
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41785-7
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- Publication type:
- Article
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
- Published in:
- 2017
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- Publication type:
- journal article
Leigh syndrome: One disorder, more than 75 monogenic causes.
- Published in:
- 2016
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- Publication type:
- journal article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
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- Publication type:
- Article
MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNA.
- Published in:
- Bioinformatics, 2022, v. 38, n. 10, p. 2967, doi. 10.1093/bioinformatics/btac216
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- Publication type:
- Article
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 893, doi. 10.1002/humu.23753
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- Publication type:
- Article
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
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- Publication type:
- Article
TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.
- Published in:
- European Heart Journal, 2017, v. 38, n. 48, p. 3579, doi. 10.1093/eurheartj/ehx315
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- Publication type:
- Article