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Mitochondrion|May 26, 2024
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosisJohan L K Van Hove, Marisa W Friederich, Daniella H Hock, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
Journal of Inherited Metabolic Disease|January 28, 2026
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine DeficiencyMichael A Swanson, Hua Jiang, Lakshmi Divya Kolora, et al.
Human Genetics|May 6, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiencyShabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, et al.
The Journal of Clinical Endocrinology and Metabolism|September 8, 2022
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic InsightsElena J Tucker, Megan J Baker, Daniella H Hock, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Brain : a Journal of Neurology|November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal modelLein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.
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