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

Get full text

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

Get full text

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

Get full text

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A by Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Characterisation of an Adult Zebrafish Model for <i>SDHB</i>-Associated Phaeochromocytomas and Paragangliomas by Jasmijn B. Miltenburg, Marnix Gorissen, Inge van Outersterp, Iris Versteeg, Alex Nowak, Richard J. Rodenburg, Antonius E. van Herwaarden, Andre J. Olthaar, Benno Kusters, Catleen Conrad, Henri J. L. M. Timmers, Margo Dona

Get full text

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome by Sofia Barbosa-Gouveia, Maria E. Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L. Valverde, Judith Armstrong-Moron, Maria del Carmen Fons-Estupiña, Liesbeth T. Wintjes, Antonia Kappen, Richard J. Rodenburg, Maria L. Couce

Get full text

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

Get full text

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency by Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten

Get full text

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway by Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing‐Huang Gao, Emanuele Barca, Maria J Sanchez‐Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina M Quinzii

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis by Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano

Get full text