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Mitochondrion|April 15, 2010
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical featuresMercedes Serrano, María Teresa García-Silva, Elena Martin-Hernandez, et al.
Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Anesthesiology|May 12, 2026
Effects of a Mitochondrial Genetic Variant on Sevoflurane HypersensitivityJavier Sanz-Pons, Celia Aladrén-Herrer, Juan Darío Ortigoza-Escobar, et al.
Scientific Reports|January 30, 2019
Plasma coenzyme Q10 status is impaired in selected genetic conditionsRaquel Montero, Delia Yubero, Maria C Salgado, et al.
Gaceta Sanitaria|April 30, 2005
[Design and validation of a questionnaire for the detection of major depression in elderly patients]Jesús D López-Torres-Hidalgo, M Pilar Galdón-Blesa, Clotilde Fernández-Olano, et al.
Frontiers in Genetics|January 24, 2020
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion SyndromeSonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, et al.
Clinical Science (London, England : 1979)|July 15, 2016
Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositisMarc Catalán-García, Glòria Garrabou, Constanza Morén, et al.
Molecular Genetics and Metabolism|January 16, 2019
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhoodHeidy Baide-Mairena, Paula Gaudó, Laura Marti-Sánchez, et al.
Clinical Chemistry|August 5, 2021
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial DiseasesSelena Trifunov, Abraham J Paredes-Fuentes, Carmen Badosa, et al.
Orphanet Journal of Rare Diseases|December 26, 2014
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndromePilar Quijada-Fraile, Mar O'Callaghan, Elena Martín-Hernández, et al.
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