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Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.American Journal of Human Genetics|May 11, 2006
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaMatthew J Longley, Susanna Clark, Cynthia Yu Wai Man, et al.Nature Medicine|May 14, 2024
Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participantsMd Shafiqur Rahman, Emma Harrison, Heather Biggs, et al.Annals of Neurology|April 1, 2018
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1Mindaugas Jonikas, Martin Madill, Alexandre Mathy, et al.Acta Neuropathologica|July 27, 2016
Herpes simplex encephalitis is linked with selective mitochondrial damage; a post-mortem and in vitro studyMałgorzata Wnęk, Lorenzo Ressel, Emanuele Ricci, et al.Nature Genetics|February 29, 2008
What causes mitochondrial DNA deletions in human cells?Kim J Krishnan, Amy K Reeve, David C Samuels, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2014
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutationsHelen R Griffin, Angela Pyle, Emma L Blakely, et al.Frontiers in Immunology|October 16, 2018
Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant DefensesJohn D Widdrington, Aurora Gomez-Duran, Angela Pyle, et al.Human Molecular Genetics|October 19, 2012
Universal heteroplasmy of human mitochondrial DNABrendan A I Payne, Ian J Wilson, Patrick Yu-Wai-Man, et al.JIMD Reports|February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeAdela Della Marina, Ulrike Schara, Angela Pyle, et al.Pageof 37