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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.BMJ Case Reports|October 9, 2013
Treatable Leigh-like encephalopathy presenting in adolescenceElisa Fassone, Yehani Wedatilake, Catherine J DeVile, 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.Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.Journal of Inherited Metabolic Disease|July 7, 2012
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatmentKate E C Duberley, Andrey Y Abramov, Annapurna Chalasani, et al.Journal of Medical Genetics|September 21, 2011
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathyElisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, et al.Journal of Inherited Metabolic Disease|January 18, 2015
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregationMarta Kanabus, Rojeen Shahni, José W Saldanha, et al.Clinical Case Reports|September 4, 2023
IgG4-related retroperitoneal fibrosis: A case report of a challenging diseaseSaika Farook, Md Shariful Alam Jilani, Md Kamrul Islam, et al.Pageof 16