Biochemical diagnosis of mitochondrial disorders von Rodenburg, Richard J. T.

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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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Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy von Wortmann, Saskia B., Rodenburg, Richard J. T., Jonckheere, An, de Vries, Maaike C., Huizing, Marjan, Heldt, Katrin, van den Heuvel, Lambert P., Wendel, Udo, Kluijtmans, Leo A., Engelke, Udo F., Wevers, Ron A., Smeitink, Jan A. M., Morava, Eva

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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes von Zech, Michael, Kopajtich, Robert, Steinbrücker, Katja, Bris, Céline, Gueguen, Naig, Feichtinger, René G., Achleitner, Melanie T., Duzkale, Neslihan, Périvier, Maximilien, Koch, Johannes, Engelhardt, Harald, Freisinger, Peter, Wagner, Matias, Brunet, Theresa, Berutti, Riccardo, Smirnov, Dmitrii, Navaratnarajah, Tharsini, Rodenburg, Richard J.T., Pais, Lynn S, Austin‐Tse, Christina, O'Leary, Melanie, Boesch, Sylvia, Jech, Robert, Bakhtiari, Somayeh, Jin, Sheng Chih, Wilbert, Friederike, Kruer, Michael C, Wortmann, Saskia B., Eckenweiler, Matthias, Mayr, Johannes A., Distelmaier, Felix, Steinfeld, Robert, Winkelmann, Juliane, Prokisch, Holger

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy von SMITS, Paulien, SAADA, Ann, SMEITINK, Jan Am, VAN DEN HEUVEL, Lambert P, WORTMANN, Saskia B, HEISTER, Angelien J, BRINK, Maaike, PFUNDT, Rolph, MILLER, Chaya, HAAS, Dorothea, HANTSCHMANN, Ralph, RODENBURG, Richard Jt

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Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy von Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., 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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Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma von RAO, Jyotsna U, ENGELKE, Udo F. H, HERMUS, Ad R. M. M, MENSENKAMP, Arjen R, KUNST, Henricus P. M, SWEEP, Fred C. G. J, TIMMERS, Henri J. L. M, RODENBURG, Richard J. T, WEVERS, Ron A, PACAK, Karel, EISENHOFER, Graeme, NAN QIN, KUSTERS, Benno, GOUDSWAARD, Angelina G, LENDERS, Jacques W. M

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency von Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing

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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders von Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.

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C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation von Wanschers, Bas F J, Szklarczyk, Radek, Pajak, Aleksandra, van den Brand, Mariël A M, Gloerich, Jolein, Rodenburg, Richard J T, Lightowlers, Robert N, Nijtmans, Leo G, Huynen, Martijn A

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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency von Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing

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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway von KLEEFSTRA, Tjitske, WORTMANN, Saskia B, LAMMENS, Martin, SMEITINK, Jan Am, VAN DER BURGT, Ineke, MORAVA, Eva, RODENBURG, Richard Jt, BONGERS, Ernie Mhf, HADZSIEV, Kinga, NOORDAM, Cees, VAN DEN HEUVEL, Lambert P, NILLESEN, Willy M, HOLLODY, Katalin, GILLESSEN-KAESBACH, Gabrielle

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Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome von Baertling, Fabian, Sánchez-Caballero, Laura, Timal, Sharita, van den Brand, Mariël AM, Ngu, Lock Hock, Distelmaier, Felix, Rodenburg, Richard JT, Nijtmans, Leo GJ

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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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Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology von Jonckheere, An I, Huigsloot, Merei, Lammens, Martin, Jansen, Jitske, van den Heuvel, Lambert P, Spiekerkoetter, Ute, von Kleist-Retzow, Jürgen-Christoph, Forkink, Marleen, Koopman, Werner J H, Szklarczyk, Radek, Huynen, Martijn A, Fransen, Jack A, Smeitink, Jan A M, Rodenburg, Richard J T

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SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors von Renkema, G Herma, Wortmann, Saskia B, Smeets, Roel J, Venselaar, Hanka, Antoine, Marion, Visser, Gepke, Ben-Omran, Tawfeg, van den Heuvel, Lambert P, Timmers, Henri J L M, Smeitink, Jan A, Rodenburg, Richard J T

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Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder von Janssen, Rolf J.R.J., Distelmaier, Felix, Smeets, Roel, Wijnhoven, Tessa, Østergaard, Elsebet, Jaspers, Nicolaas G.J., Raams, Anja, Kemp, Stephan, Rodenburg, Richard J.T., Willems, Peter H.M.G., van den Heuvel, Lambert P.W.J., Smeitink, Jan A.M., Nijtmans, Leo G.J.

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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood von Reijnders, Margot R.F., Seibt, Annette, Brugger, Melanie, Lamers, Ideke J.C., Ott, Torsten, Klaas, Oliver, Horváth, Judit, Rose, Ailsa M.S., Craghill, Isabel M., Brunet, Theresa, Graf, Elisabeth, Mayerhanser, Katharina, Hellebrekers, Debby, Pauck, David, Neuen-Jacob, Eva, Rodenburg, Richard J.T., Wieczorek, Dagmar, Klee, Dirk, Mayatepek, Ertan, Driessen, Gertjan, Bindermann, Robert, Averdunk, Luisa, Lohmeier, Klaus, Sinnema, Margje, Stegmann, Alexander P.A., Roepman, Ronald, Poulter, James A., Distelmaier, Felix

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NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect von Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A M, Wintjes, Liesbeth T, Brink, Maaike, van den Brandt, Frans A, Wilson, Callum, Rodenburg, Richard J T, Nijtmans, Leo G J

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