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Molecular Therapy. Methods & Clinical Development|February 3, 2025
Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiencyNandaki Keshavan, Miriam Greenwood, Helen Prunty, et al.Journal of Computational Chemistry|June 11, 2026
Structure-Based Design of Isoxazolidine RIPK1 Inhibitors for NeuroinflammationShamima Rahman Shila, Mansour H Almatarneh, Humaera Noor Suha, et al.BMJ Open|January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman, Russell Ecob, Harry Costello, et al.Epilepsia|December 5, 2008
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI featuresNicole I Wolf, Shamima Rahman, Bernhard Schmitt, et al.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.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.Pageof 16