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The Biochemical Journal|November 5, 2020
Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosomeDaniella H Hock, David R L Robinson, David A Stroud
Scientific Reports|February 3, 2017
Transcriptomic investigation of wound healing and regeneration in the cnidarian Calliactis polypusZachary K Stewart, Ana Pavasovic, Daniella H Hock, et al.
NPJ Genomic Medicine|March 31, 2025
Review: Utility of mass spectrometry in rare disease research and diagnosisTeresa Zhao, Daniella H Hock, James Pitt, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 21, 2021
Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex ILuke E Formosa, Boris Reljic, Alice J Sharpe, et al.
Orphanet Journal of Rare Diseases|November 29, 2024
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disordersFrancisco Santos Gonzalez, Daniella H Hock, David R Thorburn, et al.
Molecular & Cellular Proteomics : MCP|April 23, 2020
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IVDaniella H Hock, Boris Reljic, Ching-Seng Ang, et al.
Frontiers in Cell and Developmental Biology|March 18, 2022
Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory ChainDavid R L Robinson, Daniella H Hock, Linden Muellner-Wong, et al.
JIMD Reports|April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid ProteomicsLiana N Semcesen, Megan Ball, Daniella H Hock, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Nature Communications|December 20, 2023
Mtfp1 ablation enhances mitochondrial respiration and protects against hepatic steatosisCecilia Patitucci, Juan Diego Hernández-Camacho, Elodie Vimont, et al.
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