COA7(C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

(2016) Andrea Legati et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial cytochrome c oxidase deficiency

(2016) M. Rak et al.   CLINICAL SCIENCE

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C1orf163/RESA1 Is a Novel Mitochondrial Intermembrane Space Protein Connected to Respiratory Chain Assembly

(2013) Vera Kozjak-Pavlovic et al.   JOURNAL OF MOLECULAR BIOLOGY

Actin and myosin contribute to mammalian mitochondrial DNA maintenance

(2011) A. Reyes et al.   NUCLEIC ACIDS RESEARCH

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS