Associated Papers
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Gregersen N et al.
European Journal of Biochemistry, 2004
Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders.
Sim KG et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2002
Mutations in mitochondrial DNA as a cause of exercise intolerance.
DiMauro S et al.
Annals of Medicine, 2001
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
Mathur A et al.
Circulation, 1999
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS et al.
American Journal of Human Genetics, 1999
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