Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model

by Sarah Foriel, Julien Beyrath, Ilse Eidhof, Richard J. Rodenburg, Annette Schenck, Jan A. M. Smeitink
Published 2018-03-01

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

by Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap
Published 2018-06-01

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

by Annet M. Bosch, Erik-Jan Kamsteeg, Richard J. Rodenburg, Arend W. van Deutekom, Dennis R. Buis, Marc Engelen, Jan-Maarten Cobben
Published 2018-12-01

A Drosophila Mitochondrial Complex I Deficiency Phenotype Array

by Sarah Foriel, Sarah Foriel, G. Herma Renkema, G. Herma Renkema, Yvonne Lasarzewski, Job Berkhout, Richard J. Rodenburg, Jan A. M. Smeitink, Jan A. M. Smeitink, Julien Beyrath, Annette Schenck
Published 2019-03-01

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells

by Marlen Melcher, Katharina Danhauser, Annette Seibt, Özer Degistirici, Fabian Baertling, Arun Kumar Kondadi, Andreas S. Reichert, Werner J. H. Koopman, Peter H. G. M. Willems, Richard J. Rodenburg, Ertan Mayatepek, Roland Meisel, Felix Distelmaier
Published 2017-06-01

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

by Hans J C T Wessels, Rutger O Vogel, Robert N Lightowlers, Johannes N Spelbrink, Richard J Rodenburg, Lambert P van den Heuvel, Alain J van Gool, Jolein Gloerich, Jan A M Smeitink, Leo G Nijtmans
Published 2013-01-01

Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

by Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, Patricia C Salinas, Michael Häusser, Philip L Beales, Sofia Christou-Savina
Published 2019-10-01

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

by Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, P Salinas, Michael Häusser, Philip L Beales, Sofia Christou-Savina
Published 2019-09-01

Long-term treated HIV infection is associated with platelet mitochondrial dysfunction

by Wouter A. van der Heijden, Lisa van de Wijer, Martin Jaeger, Karin Grintjes, Mihai G. Netea, Rolf T. Urbanus, Reinout van Crevel, Lambertus P. van den Heuvel, Maaike Brink, Richard J. Rodenburg, Philip G. de Groot, Andre J. van der Ven, Quirijn de Mast
Published 2021-03-01

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

by Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations.

by Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

by Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

by Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn
Published 2013-01-01

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

by Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
Published 2016-05-01

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

by Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Published 2018-04-01

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

by Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton
Published 2016-11-01

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

by Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Published 2018-10-01