Mitochondrial ATP synthase: architecture, function and pathology von Jonckheere, An I., Smeitink, Jan A. M., Rodenburg, Richard J. T.

Volltext

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

Volltext

Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function von Hoes, Martijn F., Grote Beverborg, Niels, Kijlstra, J. David, Kuipers, Jeroen, Swinkels, Dorine W., Giepmans, Ben N.G., Rodenburg, Richard J., van Veldhuisen, Dirk J., de Boer, Rudolf A., van der Meer, Peter

Volltext

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation von de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

Volltext

Mitochondrial complex I-linked disease von Rodenburg, Richard J.

Volltext

Whole exome sequencing of suspected mitochondrial patients in clinical practice von Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.

Volltext

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome von Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger

Volltext

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition von Schirris, Tom J.J., Renkema, G. Herma, Ritschel, Tina, Voermans, Nicol C., Bilos, Albert, van Engelen, Baziel G.M., Brandt, Ulrich, Koopman, Werner J.H., Beyrath, Julien D., Rodenburg, Richard J., Willems, Peter H.G.M., Smeitink, Jan A.M., Russel, Frans G.M.

Volltext

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality von Abu Hanna, Firas, Zehavi, Yoav, Cohen-Barak, Eran, Khayat, Morad, Warwar, Nasim, Shreter, Roni, Rodenburg, Richard J, Spiegel, Ronen

Volltext

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy von JONCKHEERE, An I, RENKEMA, G. Herma, RODENBURG, Richard J. T, BRAS, Maaike, DEN HEUVEL, Lambert P. Van, HOISCHEN, Alexander, GILISSEN, Christian, NABUURS, Sander B, HUYNEN, Martijn A, DE VRIES, Maaike C, SMEITINK, Jan A. M

Volltext

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

Volltext

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing von TIMAL, Sharita, HOISCHEN, Alexander, GILISSEN, Christian, RODENBURG, Richard J, EIDHOF, Ilse, VAN DEN HEUVEL, Lambert, THIEL, Christian, WEVERS, Ron A, MORAVA, Eva, VELTMAN, Joris, LEFEBER, Dirk J, LEHLE, Ludwig, ADAMOWICZ, Maciej, HUIJBEN, Karin, SYKUT-CEGIELSKA, Jolanta, PAPROCKA, Justyna, JAMROZ, Ewa, VAN SPRONSEN, Francjan J, KÖRNER, Christian

Volltext

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism von Allard, Neeltje A E, Schirris, Tom J J, Verheggen, Rebecca J, Russel, Frans G M, Rodenburg, Richard J, Smeitink, Jan A M, Thompson, Paul D, Hopman, Maria T E, Timmers, Silvie

Volltext

Exome sequencing in paediatric patients with movement disorders von Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J T, Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing

Volltext

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies von Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM

Volltext

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number von Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.

Volltext

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency von Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo

Volltext

The functional genomics laboratory: functional validation of genetic variants von Rodenburg, Richard J.

Volltext

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation von Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.

Volltext

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis von Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G P, van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P, Post, Merel A, Huijben, Karin, Panneman, Daan M, Rodenburg, Richard J T, Voermans, Nicol C, Garanto, Alejandro, Koopman, Werner J H, Wessels, Hans J C T, Noga, Marek J, Lefeber, Dirk J

Volltext