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2023MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy., Brain 2023 Mar; 146(3): 858-864.
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2022The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4., Genet Med 2022 Nov; 24(11): 2308-2317.
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2022FGF21 modulates mitochondrial stress response in cardiomyocytes only under mild mitochondrial dysfunction., Sci Adv 2022 Apr; 8(14): eabn7105.
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2021Implication of folate deficiency in CYP2U1 loss of function., J Exp Med 2021 Nov; 218(11): .