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  1. No Access

    Article

    TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

    Stanislav Kmoch and colleagues identify mutations in TMEM70 in individuals with isolated mitochondrial ATP synthase deficiency, and demonstrate that complementation of cell lines of affected individuals with wild...

    Alena Čížková, Viktor Stránecký, Johannes A Mayr, Markéta Tesařová… in Nature Genetics (2008)

  2. Article

    Open Access

    Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

    To strengthen research and differential diagnostics of mitochondrial disorders, we constructed and validated an oligonucleotide microarray (h-MitoArray) allowing expression analysis of 1632 human genes involve...

    Alena Čížková, Viktor Stránecký, Robert Ivánek, Hana Hartmannová… in BMC Genomics (2008)

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