The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (1 H-MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled patients carrying mtDNA mutations associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), and MELAS-Spectrum Syndrome (MSS).
Gramegna, L.L., Evangelisti, S., Di Vito, L., La Morgia, C., Maresca, A., Caporali, L., et al. (2021). Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 8(6), 1200-1211 [10.1002/acn3.51329].
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations
Gramegna, Laura L;Evangelisti, Stefania;La Morgia, Chiara;Maresca, Alessandra;Caporali, Leonardo;Talozzi, Lia;Bianchini, Claudio;Testa, Claudia;Manners, David N;Valentino, Maria L;Liguori, Rocco;Carelli, Valerio;Tonon, Caterina
;Lodi, Raffaele
2021
Abstract
The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (1 H-MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled patients carrying mtDNA mutations associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), and MELAS-Spectrum Syndrome (MSS).| File | Dimensione | Formato | |
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