Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Life Sciences, Bioinformatics, Genetics +17

dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

Life Sciences, Evolutionary Biology, Genetics +17

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen et al. · The Lancet Neurology · 2011 · 421 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +14

Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

Alex D. Sheftel, Oliver Stehling, Antonio J. Pierik et al. · Proceedings of the National Academy of Sciences · 2010 · 404 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling et al. · The American Journal of Human Genetics · 2011 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17