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Annals of Clinical and Translational Neurology|June 7, 2024
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort studyErle Kristensen, Linda Mathisen, Siren Berland, et al.Pediatric Radiology|May 13, 2026
Neuroimaging in cerebral folate deficienciesAsthik Biswas, Karanjot Chhatwal, Rahul Singh, et al.Neurology. Genetics|November 27, 2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis DisordersAzizia Wahedi, Sniya Sudhakar, Amanda Lam, et al.Journal of Neurochemistry|January 4, 2014
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cellsSean David Hughes, Marta Kanabus, Glenn Anderson, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 29, 2013
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and managementVictoria Nesbitt, Robert D S Pitceathly, Doug M Turnbull, et al.European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.Genes|July 28, 2026
MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI AugmentationLishuang Shen, Marie T Lott, Elizabeth M Mccormick, et al.Molecular Genetics and Metabolism|June 27, 2006
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIAlistair T Pagnamenta, Iain P Hargreaves, Andrew J Duncan, et al.Belitung Nursing Journal|July 27, 2023
Experiences of front-line nurses caring for patients with COVID-19 in Bangladesh: A qualitative studyMoustaq Karim Khan Rony, Shuvashish Das Bala, Md Moshiur Rahman, et al.European Journal of Medical Genetics|January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variantsRebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.Pageof 17