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Frontiers in Pediatrics|December 17, 2025
Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literatureGiulia Ferrera, Giorgia Segre, Eleonora Lamantea, et al.
Frontiers in Cell and Developmental Biology|June 6, 2022
Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition MetalsMichele Brischigliaro, Denis Badocco, Rodolfo Costa, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 27, 2024
The striking differences in the bioenergetics of brain and liver mitochondria are enhanced in mitochondrial diseaseValeria Balmaceda, Timea Komlódi, Marten Szibor, et al.
Data in Brief|July 14, 2016
Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defectNikola Kovářová, Petr Pecina, Hana Nůsková, et al.
Clinical Chemistry|February 16, 2026
Characterization of STRC Gene Conversions by Nanopore SequencingChiara Rigon, Ugo Sorrentino, Sara Volta, et al.
EMBO Molecular Medicine|September 8, 2018
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditionsAurelio Reyes, Laura Melchionda, Alberto Burlina, et al.
Biochimica Et Biophysica Acta|January 26, 2016
Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defectsNikola Kovářová, Petr Pecina, Hana Nůsková, et al.
Advanced Healthcare Materials|February 4, 2022
Axonal Length Determines Distinct Homeostatic Phenotypes in Human iPSC Derived Motor Neurons on a Bioengineered PlatformCathleen Hagemann, Carmen Moreno Gonzalez, Ludovica Guetta, et al.
European Journal of Neurology|April 11, 2023
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patientsAnna Ardissone, Giulia Ferrera, Costanza Lamperti, et al.
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