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Wellcome Open Research|February 25, 2020
Consensus-based statements for the management of mitochondrial stroke-like episodesYi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, et al.Annals of Neurology|September 19, 2015
Epilepsy in adults with mitochondrial disease: A cohort studyRoger G Whittaker, Helen E Devine, Grainne S Gorman, et al.Annals of Neurology|October 30, 2021
Natural History of Leigh Syndrome: A Study of Disease Burden and ProgressionAlbert Z Lim, Yi Shiau Ng, Alasdair Blain, et al.Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.Annals of Neurology|June 13, 2019
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort studyYi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, et al.Brain : a Journal of Neurology|December 20, 2021
Forecasting stroke-like episodes and outcomes in mitochondrial diseaseYi Shiau Ng, Nichola Z Lax, Alasdair P Blain, et al.Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.Genetics in Medicine Open|June 5, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.Pageof 2