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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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ALG1-CDG: clinical and molecular characterization of 39 unreported patients
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
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Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
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ATP synthase deficiency: a diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction
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Mutations in PEX10 are a cause of autosomal recessive ataxia
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Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia