M. Jaksch
Metabolic Disease Centre Munich-Schwabing and Institute of Clinical Chemistry
Diagnostic Molecular Biology
and Mitochondrial Genetics
Munich
Germany
Name/email consistency: high
- Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Jaksch, M., Kleinle, S., Scharfe, C., Klopstock, T., Pongratz, D., Müller-Höcker, J., Gerbitz, K.D., Liechti-Gallati, S., Lochmuller, H., Horvath, R. J. Med. Genet. (2001)
- Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Jaksch, M., Horvath, R., Horn, N., Auer, D.P., Macmillan, C., Peters, J., Gerbitz, K.D., Kraegeloh-Mann, I., Muntau, A., Karcagi, V., Kalmanchey, R., Lochmuller, H., Shoubridge, E.A., Freisinger, P. Neurology (2001)
- A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. Jaksch, M., Lochmuller, H., Schmitt, F., Volpel, B., Obermaier-Kusser, B., Horvath, R. Neurology (2001)
- Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Jaksch, M., Paret, C., Stucka, R., Horn, N., Müller-Höcker, J., Horvath, R., Trepesch, N., Stecker, G., Freisinger, P., Thirion, C., Müller, J., Lunkwitz, R., Rödel, G., Shoubridge, E.A., Lochmüller, H. Hum. Mol. Genet. (2001)
