Liana N. Semcesen
Parkville, VIC, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.
Journal: Journal of inherited metabolic disease
Published: March 04, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.
Journal: JIMD reports
Published: December 29, 2025
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
Journal: Annals of neurology
Published: August 25, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: EMBO molecular medicine
Published: March 26, 2025
Generating mammalian knock-out cell lines to investigate mitochondrial protein complex assembly.
Journal: Methods in enzymology
Published: November 02, 2024
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Journal: Genome medicine
Published: September 18, 2024
Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukemia.
Journal: Cell
Published: June 17, 2024
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Journal: International journal of molecular sciences
Published: December 22, 2022
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Journal: Nature medicine
Published: December 15, 2022
Showing 1-11 of 11
Last Updated: 09/26/2026