Associated Papers
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M et al.
International Journal of Molecular Sciences, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.
Dursun F et al.
European Journal of Endocrinology, 2022
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW et al.
Nature Communications, 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R et al.
European Journal of Human Genetics : Ejhg, 2018
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
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