Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism

por Meierhofer, D, Mayr, J A, Fink, K, Schmeller, N, Kofler, B, Sperl, W
Publicado 2006

Lack of complex I is associated with oncocytic thyroid tumours

por Zimmermann, F A, Mayr, J A, Neureiter, D, Feichtinger, R, Alinger, B, Jones, N D, Eder, W, Sperl, W, Kofler, B
Publicado 2009

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and ske...

por Bader, Ingrid, Freilinger, M., Landauer, F., Waldmüller, S., Mueller-Felber, W., Rauscher, C., Sperl, W., Bittner, R. E., Schmidt, W. M., Mayr, J. A.
Publicado 2022

Molekulare Medizin: Pathobiochemie als Schlüssel zur personalisierten Therapie vererbter Krankheiten

por Mayr, J. A., Feichtinger, R. G., Achleitner, M. T., Brugger, K., Kutsam, K., Spenger, J., Koch, J., Hofbauer, P., Lagler, F. B., Sperl, W., Weghuber, D., Wortmann, S. B.
Publicado 2021