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The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
Nature Communications|November 20, 2025
An inherited mitochondrial DNA mutation remodels inflammatory cytokine responses in macrophages and in vivo in miceEloïse Marques, Stephen P Burr, Alva M Casey, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
Neurology|November 8, 2014
LRRK2 exonic variants and risk of multiple system atrophyMichael G Heckman, Lucia Schottlaender, Alexandra I Soto-Ortolaza, 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|December 26, 2009
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease geneMatthias Elstner, Christopher M Morris, Katharina Heim, et al.
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.
Nature Medicine|August 24, 2021
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseasesNa Cai, Aurora Gomez-Duran, Ekaterina Yonova-Doing, et al.
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