Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases von Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.

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Mitochondrial disease criteria : Diagnostic applications in children von MORAVA, E, VAN DEN HEUVEL, L, HOL, F, DE VRIES, M. C, HOGEVEEN, M, RODENBURG, R. J, SMEITINK, J. A. M

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Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions von Renkema, G. H., Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A. P., Nikkels, P. G. J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, R. J. T.

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QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation von Gödiker, J, Grüneberg, M, DuChesne, I, Reunert, J, Rust, S, Westermann, C, Wada, Y, Classen, G, Langhans, C D, Schlingmann, K P, Rodenburg, R J, Pohlmann, R, Marquardt, T

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A lethal neonatal phenotype of mitochondrial short‐chain enoyl‐CoA hydratase‐1 deficiency von Al Mutairi, F., Shamseldin, H.E., Alfadhel, M., Rodenburg, R.J., Alkuraya, F.S.

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Major depression in adolescent children consecutively diagnosed with mitochondrial disorder von Koene, S, Kozicz, T.L, Rodenburg, R.J.T, Verhaak, C.M, de Vries, M.C, Wortmann, S, van de Heuvel, L, Smeitink, J.A.M, Morava, E

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Tivozanib for the treatment of renal cell carcinoma: patient selection and perspectives von Rodenburg, R J, Eskens, Falm

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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy von Jonckheere, A I, Hogeveen, M, Nijtmans, L G J, van den Brand, M A M, Janssen, A J M, Diepstra, J H S, van den Brandt, F C A, van den Heuvel, L P, Hol, F A, Hofste, T G J, Kapusta, L, Dillmann, U, Shamdeen, M G, Smeitink, J A M, Rodenburg, R J T

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The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases von Breuer, M.E, Koopman, W.J, Koene, S, Nooteboom, M, Rodenburg, R.J, Willems, P.H, Smeitink, J.A.M

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Skeletal muscle toxicity associated with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia von Janssen, L., Frambach, S. J. C. M., Allard, N. A. E., Hopman, M. T. E., Schirris, T. J. J., Voermans, N. C., Rodenburg, R. J., Blijlevens, N. M. A., Timmers, S.

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Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake von Nabuurs, C. I., Choe, C. U., Veltien, A., Kan, H. E., van Loon, L. J. C., Rodenburg, R. J. T., Matschke, J., Wieringa, B., Kemp, G. J., Isbrandt, D., Heerschap, A.

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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect von Baertling, F., Sánchez‐Caballero, L., van den Brand, M.A.M., Fung, C.‐W., Chan, S.H.‐S., Wong, V.C.‐N., Hellebrekers, D.M.E., de Coo, I.F.M., Smeitink, J.A.M., Rodenburg, R.J.T., Nijtmans, L.G.J.

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Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome von Engelmann, G., Meyburg, J., Shahbek, N., Al-Ali, M., Hairetis, M. H., Baker, A. J., Rodenburg, R. J. T., Wenning, D., Flechtenmacher, C., Ellard, S., Smeitink, J. A., Hoffmann, G. F., Buchanan, C. R.

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Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function von Panneman, D.M., Smeitink, J.A., Rodenburg, R.J.

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Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria von Haas, D, Niklowitz, P, Hörster, F, Baumgartner, E. R, Prasad, C, Rodenburg, R. J, Hoffmann, G. F, Menke, T, Okun, J. G

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MR spectroscopy of the brain in Leigh syndrome von Sijens, P.E, Smit, G.P.A, Rödiger, L.A, van Spronsen, F.J, Oudkerk, M, Rodenburg, R.J, Lunsing, R.J

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Metabolic capacity of the diaphragm in patients with COPD von Wijnhoven, J.H., Janssen, A.J.M., van Kuppevelt, T.H., Rodenburg, R.J.T., Dekhuijzen, P.N.R.

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Depressive behaviour in children diagnosed with a mitochondrial disorder von Morava, E, Gardeitchik, T, Kozicz, T, de Boer, L, Koene, S, de Vries, M C, McFarland, R, Roobol, T, Rodenburg, R J T, Verhaak, C M

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Validation of the Chowdhury overall survival score in patients with melanoma brain metastasis treated with Gamma Knife Radiosurgery von Rodenburg, R. J., Hanssens, P. E., Ho, V. K. Y., Beerepoot, L. V.

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Early cardiac involvement in children carrying the A3243G mtDNA mutation von Wortmann, S B, Rodenburg, R J, Backx, A P, Schmitt, E, Smeitink, J A M, Morava, E

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