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Neurology|May 19, 2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEOC Fratter, G S Gorman, J D Stewart, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
ADT-030, a novel PDE10 inhibitor, demonstrates potent antitumor activity in pancreatic ductal adenocarcinomaDhana Sekhar Reddy Bandi, Ganji Purnachandra Nagaraju, Sujith Sarvesh, et al.
European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.
BMC Cancer|June 20, 2020
What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420)David P French, Susan Astley, Adam R Brentnall, et al.
Trials|September 20, 2022
Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy, Alaa Abouhajar, Lisa Alcock, et al.
Brain Communications|December 5, 2025
Elevated glioma-related cortical glutamate in vivo is associated with ex vivo interictal discharges in human brain slicesBodiabaduge Ashan P Jayasekera, Jehill Parikh, Tamara Modebadze, et al.
Scientific Reports|May 18, 2026
Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trialRenae J Stefanetti, Chiara Pizzamiglio, Alasdair P Blain, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
British Journal of Cancer|April 3, 2023
Quantifying the effects of risk-stratified breast cancer screening when delivered in real time as routine practice versus usual screening: the BC-Predict non-randomised controlled study (NCT04359420)D Gareth Evans, Lorna McWilliams, Susan Astley, et al.
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.
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