Associated Papers
A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders.
Li X et al.
Frontiers in Genetics, 2024
Assembly of mitochondrial succinate dehydrogenase in human health and disease.
Cao K et al.
Free Radical Biology & Medicine, 2023
Structure of the human respiratory complex II.
Du Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S et al.
European Journal of Human Genetics : Ejhg, 2021
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.
Theis JL et al.
Elife, 2020
Exome analysis of carotid body tumor.
Snezhkina AV et al.
Bmc Medical Genomics, 2018
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
Jackson CB et al.
Journal of Medical Genetics, 2014
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0
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