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Human Molecular Genetics|January 24, 2018
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathiesMarina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, et al.Human Genomics|February 2, 2019
A genome-wide association study of mitochondrial DNA copy number in two population-based cohortsAnna L Guyatt, Rebecca R Brennan, Kimberley Burrows, et al.Neurology. Genetics|April 29, 2016
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J Kamer, Helen Griffin, et al.Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.Nucleic Acids Research|October 10, 2022
Two type I topoisomerases maintain DNA topology in human mitochondriaKatja E Menger, James Chapman, Héctor Díaz-Maldonado, et al.Neurology. Genetics|April 12, 2016
Respiratory chain deficiency in nonmitochondrial diseaseAngela Pyle, Helen J Nightingale, Helen Griffin, et al.JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.Journal of Neurology|September 4, 2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyAndrea Balreira, Veronika Boczonadi, Emanuele Barca, et al.Life Science Alliance|January 8, 2025
COA5 has an essential role in the early stage of mitochondrial complex IV assemblyJia Xin Tang, Alfredo Cabrera-Orefice, Jana Meisterknecht, et al.Nature Cell Biology|January 17, 2018
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.Pageof 10