Chrzanowska-Lightowlers, Zofia Ma

Top Publications

Top Publications Authored or Co-Authored by "Chrzanowska-Lightowlers, Zofia Ma"

• Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

  Biochimica et Biophysica Acta - Molecular Basis of Disease, Volume 1842, No. 1, Year 2014, Citations 65
• The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease

  Mitochondrion, Volume 25, Year 2015, Citations 35
• The role of the mitochondrial ribosome in human disease: Searching for mutations in 12s mitochondrial rRNA with high disruptive potential

  Human Molecular Genetics, Volume 23, No. 4, Article ddt490, Year 2014, Citations 9
• rugose (rg), a drosophila a kinase anchor protein, is required for retinal pattern formation and interacts genetically with multiple signaling pathways

  Genetics, Volume 161, No. 2, Year 2002, Citations 7