The molecular pathology of pathogenic mitochondrial tRNA variants

por Richter, Uwe, McFarland, Robert, Taylor, Robert W., Pickett, Sarah J.
Publicado 2021

The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism

por Xia, Charley, Pickett, Sarah J., Liewald, David C. M., Weiss, Alexander, Hudson, Gavin, Hill, W. David
Publicado 2023

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission

por Bernardino Gomes, Tiago M, Ng, Yi Shiau, Pickett, Sarah J, Turnbull, Doug M, Vincent, Amy E
Publicado 2021

T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants

por Franklin, Imogen G, Milne, Paul, Childs, Jordan, Boggan, Róisín M, Barrow, Isabel, Lawless, Conor, Gorman, Gráinne S, Ng, Yi Shiau, Collin, Matthew, Russell, Oliver M, Pickett, Sarah J
Publicado 2023

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

por Pickett, Sarah J., Grady, John P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., Wilson, Ian J., Cordell, Heather J., Turnbull, Doug M., Taylor, Robert W., McFarland, Robert
Publicado 2018

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

por Boal, Rachel L, Ng, Yi Shiau, Pickett, Sarah J, Schaefer, Andrew M, Feeney, Catherine, Bright, Alexandra, Taylor, Robert W, Turnbull, Doug M, Gorman, Grainne S, Cheetham, Tim, McFarland, Robert
Publicado 2018

Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease

por Chen, Chun, McDonald, David, Blain, Alasdair, Sachdeva, Ashwin, Bone, Laura, Smith, Anna L. M., Warren, Charlotte, Pickett, Sarah J., Hudson, Gavin, Filby, Andrew, Vincent, Amy E., Turnbull, Doug M., Reeve, Amy K.
Publicado 2021

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

por Grady, John P, Pickett, Sarah J, Ng, Yi Shiau, Alston, Charlotte L, Blakely, Emma L, Hardy, Steven A, Feeney, Catherine L, Bright, Alexandra A, Schaefer, Andrew M, Gorman, Gráinne S, McNally, Richard JQ, Taylor, Robert W, Turnbull, Doug M, McFarland, Robert
Publicado 2018