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Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.JAMA Neurology|March 5, 2014
Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility studyGraham S Jackson, Jesse Burk-Rafel, Julie Ann Edgeworth, et al.Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.Nature|April 16, 2010
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseLyndsey Craven, Helen A Tuppen, Gareth D Greggains, et al.Acta Neuropathologica|March 29, 2017
Amyloid-β accumulation in the CNS in human growth hormone recipients in the UKDiane L Ritchie, Peter Adlard, Alexander H Peden, et al.Nature Communications|July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.Annals of Neurology|February 6, 2015
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial diseaseGráinne S Gorman, Andrew M Schaefer, Yi Ng, et al.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.Blood Cells, Molecules & Diseases|January 28, 2003
Neuroferritinopathy: a window on the role of iron in neurodegenerationDouglas E Crompton, Patrick F Chinnery, Constanze Fey, et al.Pageof 37