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JAMA Neurology|April 26, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial DiseaseMika H Martikainen, Yi Shiau Ng, Gráinne S Gorman, et al.Ophthalmology|April 27, 2010
The prevalence and natural history of dominant optic atrophy due to OPA1 mutationsPatrick Yu-Wai-Man, Philip G Griffiths, Ailbhe Burke, et al.Nature|August 16, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humansRahul Gupta, Masahiro Kanai, Timothy J Durham, et al.Trials|January 21, 2022
Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatmentsCaroline Cake, Emma Ogburn, Heather Pinches, et al.Brain : a Journal of Neurology|December 16, 2014
Exome sequencing in undiagnosed inherited and sporadic ataxiasAngela Pyle, Tania Smertenko, David Bargiela, et al.Brain : a Journal of Neurology|December 5, 2006
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationPatrick F Chinnery, Douglas E Crompton, Daniel Birchall, et al.Neurogenetics|November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismMichael J Keogh, D Daud, A Pyle, et al.Cell|June 8, 2024
MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levelsLuis Carlos Tábara, Stephen P Burr, Michele Frison, et al.Developmental Cell|May 13, 2026
Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivoRajini Chandrasegaram, Sara Gottardo, Abhilesh Dhawanjewar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variantsThiloka Ratnaike, Siddharth Ramanan, Nour Elkhateeb, et al.Pageof 37