Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts von Janssen, Antoon J.M, Trijbels, Frans J.M, Sengers, Rob C.A, Smeitink, Jan A.M, van den Heuvel, Lambert P, Wintjes, Liesbeth T.M, Stoltenborg-Hogenkamp, Berendien J.M, Rodenburg, Richard J.T

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High-Throughput Assay to Measure Oxygen Consumption in Digitonin-Permeabilized Cells of Patients with Mitochondrial Disorders von Jonckheere, An I, Huigsloot, Merei, Janssen, Antoon J.M, Kappen, Antonia J.H, Smeitink, Jan A.M, Rodenburg, Richard J.T

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Inhibition of non‐receptor tyrosine kinase Src induces phosphoserine 256‐independent aquaporin‐2 membrane accumulation von Cheung, Pui W., Terlouw, Abby, Janssen, Sam Antoon, Brown, Dennis, Bouley, Richard

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Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology von Janssen, Antoon J.M, Trijbels, Frans J.M, Sengers, Rob C.A, Wintjes, Liesbeth T.M, Ruitenbeek, Wim, Smeitink, Jan A.M, Morava, Eva, van Engelen, Baziel G.M, van den Heuvel, Lambert P, Rodenburg, Richard J.T

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Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients von Tan, Edward C.T, Janssen, Antoon J.M, Roestenberg, Peggy, van den Heuvel, Lambert P, Goris, R. Jan A, Rodenburg, Richard J.T

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Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency von Farhoud, Murtada H., Nijtmans, Leo G., Wanders, Ronald J. A., Wessels, Hans J. C. T., Lasonder, Edwin, Janssen, Antoon J. M., Rodenburg, Richard R. J., van den Heuvel, Lambert P., Smeitink, Jan A. M.

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Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system von Janssen, Antoon J. M., Schuelke, Markus, Smeitink, Jan A. M., Trijbels, Frans J. M., Sengers, Rob C. A., Lucke, Barbara, Wintjes, Liesbeth T. M., Morava, Eva, van Engelen, Baziel G. M., Smits, Bart W., Hol, Frans A., Siers, Marloes H., Ter Laak, Henk, van der Knaap, Marjo S., Van Spronsen, Francjan J., Rodenburg, Richard J. T., van den Heuvel, Lambert P.

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Coenzyme Q- responsive Leigh's encephalopathy in two sisters von Van Maldergem, Lionel, Trijbels, Frans, DiMauro, Salvatore, Sindelar, Pavel J., Musumeci, Olimpia, Janssen, Antoon, Delberghe, Xavier, Martin, Jean-Jacques, Gillerot, Yves

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Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts von LEVTCHENKO, Elena N, WILMER, Martijn J. G, JANSSEN, Antoon J. M, KOENDERINK, Jan B, VISCH, Henk-Jan, WILLEMS, Peter H. G. M, DE GRAAF-HESS, Adriana, BLOM, Henk J, VAN DEN HEUVEL, Lambertus P, MONNENS, Leo A

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Impaired ubiquitin-proteasome-mediated PGC-1[alpha] protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency von Farhoud, Murtada H, Nijtmans, Leo G, Wanders, Ronald J. A, Wessels, Hans J. C. T, Lasonder, Edwin, Janssen, Antoon J. M, Rodenburg, Richard R. J, van den Heuvel, Lambert P, Smeitink, Jan A. M

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Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome von Smits, Bart, van den Heuvel, Lambert, Knoop, Hans, Küsters, Benno, Janssen, Antoon, Borm, George, Bleijenberg, Gijs, Rodenburg, Richard, van Engelen, Baziel

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Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns–Sayre/MELAS overlap syndrome and A3243G mtDNA mutation von Wilichowski, Ekkehard, Christoph Korenke, Georg, Ruitenbeek, Wim, De Meirleir, Linda, Hagendorff, Angela, Janssen, Antoon J.M, Lissens, Willy, Hanefeld, Folker

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Normal carnitine levels in patients with chronic fatigue syndrome von Soetekouw, Patricia M.M.B, Wevers, Ron A, Vreken, Peter, Elving, Lammy D, Janssen, Antoon J.M, van der Veen, Yvette, Bleijenberg, Gijs, van der Meer, Jos W.M

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Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations von Morava, Eva, Rodenburg, Richard J., Hol, Frans, de Vries, Maaike, Janssen, Antoon, van den Heuvel, Lambert, Nijtmans, Leo, Smeitink, Jan

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Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation von Schuelke, Markus, Krude, Heiko, Finckh, Barbara, Mayatepek, Ertan, Janssen, Antoon, Schmelz, Michael, Trefz, Friedrich, Trijbels, Frans, Smeitink, Jan

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Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial m... von Bentlage, Herman A.C.M, Janssen, Antoon J.M, Chomyn, Anne, Attardi, Giuseppe, Walker, John E, Schägger, Hermann, Sengers, Rob C.A, Trijbels, Frans J.M

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In Reply von Rodenburg, Richard J T, Stoltenborg-Hogenkamp, Berendien J M, Wintjes, Liesbeth T M, Smeitink, Jan A, van den Heuvel, Lambert P, Janssen, Antoon J M

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A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I von Scharfe, Curt, Hauschild, Michael, Klopstock, Thomas, Janssen, Antoon J M, Heidemann, Peter H, Meitinger, Thomas, Jaksch, Michaela

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De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease von Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon, Schuelke, Markus

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Correct Assay of Complex I Activity in Human Skin Fibroblasts by Timely Addition of Rotenone/In Reply von de Wit, L Elly A, Scholte, Hans R, Sluiter, Wim, Rodenburg, Richard J T, Stoltenborg-Hogenkamp, Berendien J M, Wintjes, Liesbeth T M, Smeitink, Jan A, van den Heuvel, Lambert P, Janssen, Antoon J M

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