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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 the Neurological Sciences|March 13, 2009
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological studyRoberta Virgilio, Dario Ronchi, Andreina Bordoni, et al.Journal of the Neurological Sciences|February 19, 2010
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairmentDario Ronchi, Roberta Virgilio, Andreina Bordoni, 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.Neurochemistry International|October 22, 2013
Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen speciesSophie-Beth Aylett, Viruna Neergheen, Iain P Hargreaves, et al.Neuroscience and Biobehavioral Reviews|May 17, 2021
Effect of neuropsychiatric medications on mitochondrial function: For better or for worseTim L Emmerzaal, Gerben Nijkamp, Marin Veldic, et al.American Journal of Human Genetics|May 7, 2005
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionOrly Elpeleg, Chaya Miller, Eli Hershkovitz, et al.Plos One|August 7, 2010
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsLuis C López, Catarina M Quinzii, Estela Area, et al.Pageof 17