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Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.
Mitochondrion|March 31, 2025
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotypePiervito Lopriore, Andrea Legati, Christiane Michaela Neuhofer, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
Biochimica Et Biophysica Acta. Bioenergetics|December 8, 2022
Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial diseaseCarlo Viscomi, Anthony L Moore, Massimo Zeviani, et al.
Antioxidants & Redox Signaling|January 27, 2022
Redox Signaling and Stress in Inherited MyopathiesSukru Anil Dogan, Giacomo Giacchin, Ester Zito, et al.
Free Radical Biology & Medicine|June 6, 2026
Mitochondrial disease: mechanisms, signalling, and therapeutic opportunitiesSamantha Corrà, Luke Young, Anthony L Moore, et al.
Methods in Molecular Biology (Clifton, N.J.)|June 30, 2022
Measuring the Mitochondrial Ubiquinone (Q) Pool Redox State in Isolated Respiring MitochondriaMarten Szibor, Estelle Heyne, Carlo Viscomi, et al.
Brain : a Journal of Neurology|October 21, 2022
Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- miceSamantha Corrà, Raffaele Cerutti, Valeria Balmaceda, et al.
Frontiers in Pharmacology|August 14, 2023
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patientsAlessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, et al.
Antioxidants & Redox Signaling|December 12, 2019
Physical and Functional Cross Talk Between Endo-Sarcoplasmic Reticulum and Mitochondria in Skeletal MuscleSimona Boncompagni, Diego Pozzer, Carlo Viscomi, et al.
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