Molecular basis of diseases induced by the mitochondrial DNA mutation m. 9032T> C

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[HTML][HTML] The Role of Visual Electrophysiology in Systemic Hereditary Syndromes

M Yu, ER Vieta-Ferrer, A Bakdalieh… - International Journal of …, 2025 - pmc.ncbi.nlm.nih.gov
Visual electrophysiology is a valuable tool for evaluating the visual system in various
systemic syndromes. This review highlights its clinical application in a selection of …
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Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism

C Panja, K Niedzwiecka, E Baranowska… - Scientific Reports, 2023 - nature.com
Defects in ATP synthase functioning due to the substitutions in its two mitochondrially
encoded subunits a and 8 lead to untreatable mitochondrial diseases. Defining the …
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