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Journal of Inherited Metabolic Disease|December 11, 2022
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genesAzizia Wahedi, Chandika Soondram, Alan E Murphy, et al.Pharmacological Research|March 10, 2024
IUPHAR ECR review: Cancer-related anorexia-cachexia in cancer patients: Pathophysiology and treatmentIftekhar Hossain Chowdhury, Shamima Rahman, Yeasmin Jahan Afroze, et al.Nature Reviews. Endocrinology|October 8, 2016
Mitochondrial disease and endocrine dysfunctionJasmine Chow, Joyeeta Rahman, John C Achermann, et al.European Journal of Human Genetics : EJHG|July 21, 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiencyEleanor Hay, Louise C Wilson, Bethan Hoskins, et al.Neuroradiology|November 5, 2025
Imaging patterns of paediatric CNS mitochondrial disordersPritika Gaur, Cesar Alves, Harun Yildiz, et al.European Journal of Heart Failure|January 20, 2010
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain diseaseGiuseppe Limongelli, Maite Tome-Esteban, Charungthai Dejthevaporn, et al.Human Molecular Genetics|October 12, 2014
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing lossMary O'Sullivan, Paul Rutland, Deirdre Lucas, et al.American Journal of Medical Genetics. Part A|August 7, 2013
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutationsRojeen Shahni, Yehani Wedatilake, Maureen A Cleary, et al.Frontiers in Physiology|July 25, 2017
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-SynthomeCuiwen H He, Dylan S Black, Christopher M Allan, et al.Journal of Inherited Metabolic Disease|July 27, 2025
Therapies for Mitochondrial Disease: Past, Present, and FutureMegan Ball, Nicole J van Bergen, Alison G Compton, et al.Pageof 17