A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant
Article in Gene (March 2024)
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Integrated analysis of transcriptomic and proteomic alterations in mouse models of ALS/FTD identify early metabolic adaptions with similarities to mitochondrial dysfunction disorders
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Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
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