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JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, 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|October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristicsRobert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology|June 3, 2025
Dostarlimab and niraparib in primary advanced ovarian cancerA-C Hardy-Bessard, E Pujade-Lauraine, R G Moore, et al.
Annals of Human Genetics|August 14, 2002
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac diseaseS Popat, N Hearle, L Hogberg, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, 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.
Molecular Genetics and Metabolism|September 26, 2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence baseKathryn M Camp, Danuta Krotoski, Melissa A Parisi, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
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