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

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Lack of complex I is associated with oncocytic thyroid tumours von Zimmermann, F A, Mayr, J A, Neureiter, D, Feichtinger, R, Alinger, B, Jones, N D, Eder, W, Sperl, W, Kofler, B

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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism von Meierhofer, D, Mayr, J A, Fink, K, Schmeller, N, Kofler, B, Sperl, W

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Oxygen distribution in microcirculation after arginine vasopressin-induced arteriolar vasoconstriction von Friesenecker, B, Tsai, A. G, Dunser, M. W, Mayr, A. J, Martini, J, Knotzer, H, Hasibeder, W, Intaglietta, M

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Antifactor Xa activity in intensive care patients receiving thromboembolic prophylaxis with standard doses of enoxaparin von Mayr, A.J, Dünser, M, Jochberger, S, Fries, D, Klingler, A, Joannidis, M, Hasibeder, W, Schobersberger, Wolfgang

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Danon disease: Case report and detection of new mutation von Regelsberger, G., Höftberger, R., Pickl, W. F., Zlabinger, G. J., Körmöczi, U., Salzer-Muhar, U., Luckner, D., Bodamer, O. A., Mayr, J. A., Muss, W. H., Budka, H., Bernheimer, H.

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Cardiac performance during vasopressin infusion in postcardiotomy shock von DÜNSER, M. W, MAYR, A. J, STALLINGER, A, ULMER, H, RITSCH, N, KNOTZER, H, PAJK, W, MUTZ, N. J, HASIBEDER, W. R

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Arginine vasopressin in advanced vasodilatory shock: A prospective, randomized, controlled study von DÜNSER, Martin W, MAYR, Andreas J, ULMER, Hanno, KNOTZER, Hans, SUMANN, Günther, PAJK, Werner, FRIESENECKER, Barbara, HASIBEDER, Walter R

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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases von Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.

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Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I von Budde, S. M. S., Heuvel, L. P. W. J., Smeets, R. J. P., Skladal, D., Mayr, J. A., Boelen, C., Petruzzella, V., Papa, S., Smeitink, J. A. M.

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Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism von Horváth, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Müller‐Höcker, J., Pongratz, D., Moller, L. B., Horn, N., Jaksch, M.

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MKS1 mutations cause joubert syndrome with agenesis of the corpus callosum von Bader, Ingrid, Decker, E, Mayr, J.A, Lunzer, V, Koch, J, Boltshauser, E, Sperl, W, Pietsch, P, Ertl-Wagner, B, Bolz, H, Bergmann, C, Rittinger, O

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Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases von 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

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Arginine vasopressin and serum nitrite/nitrate concentrations in advanced vasodilatory shock von Dünser, M. W., Werner, E. R., Wenzel, V., Ulmer, H., Friesenecker, B. E., Hasibeder, W. R., Mayr, A. J.

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Craniotomy during ECMO in a severely traumatized patient von Friesenecker, B E, Peer, R, Rieder, J, Lirk, P, Knotzer, H, Hasibeder, W R, Mayr, A J, Dünser, M W

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Platelet transfusion can mimic somatic mtDNA mutations von Meierhofer, D, Ebner, S, Mayr, J A, Jones, N D, Kofler, B, Sperl, W

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Mitochondrial DNA Depletion in Alpers Syndrome von Tesarova, M., Mayr, J. A., Wenchich, L., Hansikova, H., Elleder, M., Blahova, K., Sperl, W., Zeman, J.

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The Effects of Vasopressin on Systemic Hemodynamics in Catecholamine-Resistant Septic and Postcardiotomy Shock: A Retrospective Analysis von Dünser, Martin W., Mayr, Andreas J., Ulmer, Hanno, Ritsch, Nicole, Knotzer, Hans, Pajk, Werner, Luckner, Günther, Mutz, Norbert J., Hasibeder, Walter R.

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Deficiency of mitochondrial ATP synthase of nuclear genetic origin von Sperl, W., Ješina, P., Zeman, J., Mayr, J.A., DeMeirleir, L., VanCoster, R., Pícková, A., Hansíková, H., Houšt’ková, H., Krejčík, Z., Koch, J., Smet, J., Muss, W., Holme, E., Houštěk, J.

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Cardiac failure and multiple organ dysfunction syndrome in a patient with endocrine adenomatosis von Dünser, M. W., Mayr, A. J., Gasser, R., Rieger, M., Friesenecker, B., Hasibeder, W. R.

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