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Richard J. Rodenburg

Radboud University Medical Center

74H-index
377Paper Count
1.8WCitation Count
Published Papers 166
Publication Date
Pathogenesis of mtDNA point mutation m.10191 T > C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria
err2025-10-10
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PREAI
errZeinab Alsadat Ahmadi; Alfredo Cabrera-Orefice; Marta Zaninello; Esther Barth; Matteo Veronese; Richard Rodenburg; Elena I. Rugarli; Susanne Brodesser; Susanne Arnold; Ulrich Brandt
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Should we be careful with exercise in post-exertional malaise after long COVID?
err2025-02-18
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errOAAI
errChristiaan G. J. Saris; Baziel G. M. van Engelen; Mirian C. H. Janssen; Benno Kusters; Richard J. T. Rodenburg; David E. Sluijs; Nicoline B. M. Voet
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Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients
err2025-01-01
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errOAAI
errMuffels, Irena. J. J.; Rodenburg, Richard; Willemen, Hanneke L. D.; van Haaften-Visser, Desiree; Waterham, Hans; Eijkelkamp, Niels; Fuchs, Sabine A.
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Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome
err2024-04-30
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PREAI
errGalosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; van den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo
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Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait
err2024-03-12
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PREAI
errVerhoeven, Jamie I.; Kramer, Jasper; Seeger, Juergen; Molenaar, Joery P.; Braakman, Hilde; Kamsteeg, Erik-Jan; Rodenburg, Richard J.; Kusters, Benno; Koudijs, Suzanne; Van Engelen, Baziel G.; Erasmus, Corrie E.; Voermans, Nicol C.
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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
err2024-02-28
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errOAAI
errAbu Hanna, Firas; Zehavi, Yoav; Cohen-Barak, Eran; Khayat, Morad; Warwar, Nasim; Shreter, Roni; Rodenburg, Richard J.; Spiegel, Ronen
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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
err2023-07-01
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errOAAI
errReijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, 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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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
err2023-03-07
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errOAAI
errWebb, Bryn D.; Nowinski, Sara M.; Solmonson, Ashley; Ganesh, Jaya; Rodenburg, Richard J.; Leandro, Joao; Evans, Anthony; Vu, Hieu S.; Naidich, Thomas P.; Gelb, Bruce D.; DeBerardinis, Ralph J.; Rutter, Jared; Houten, Sander M.
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Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
err2023-03-02
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errOAAI
errWong, Tsz-sum; Belaramani, Kiran M.; Chan, Chun-kong; Chan, Wing-ki; Chan, Wai-lun Larry; Chang, Shek-kwan; Cheung, Sing-ngai; Cheung, Ka-yin; Cheung, Yuk-fai; Chong, Shuk-ching Josephine; Chow, Chi-kwan Jasmine; Chung, Hon-yin Brian; Fan, Sin-ying Florence; Fok, Wai-ming Joshua; Fong, Ka-wing; Fung, Tsui-hang Sharon; Hui, Kwok-fai; Hui, Ting-hin; Hui, Joannie; Ko, Chun-hung; Kwan, Min-chung; Kwok, Mei-kwan Anne; Kwok, Sung-shing Jeffrey; Lai, Moon-sing; Lam, Yau-on; Lam, Ching-wan; Lau, Ming-chung; Law, Chun-yiu Eric; Lee, Wing-cheong; Lee, Han-chih Hencher; Lee, Chin-nam; Leung, Kin-hang; Leung, Kit-yan; Li, Siu-hung; Ling, Tsz-ki Jacky; Liu, Kam-tim Timothy; Lo, Fai-man; Lui, Hiu-tung; Luk, Ching-on; Luk, Ho-ming; Ma, Che-kwan; Ma, Karen; Ma, Kam-hung; Mew, Yuen-ni; Mo, Alex; Ng, Sui-fun; Poon, Wing-kit Grace; Rodenburg, Richard; Sheng, Bun; Smeitink, Jan; Szeto, Cheuk-ling Charing; Tai, Shuk-mui; Tse, Choi-ting Alan; Tsung, Li-yan Lilian; Wong, Ho-ming June; Wong, Wing-yin Winnie; Wong, Kwok-kui; Wong, Suet-na Sheila; Wong, Chun-nei Virginia; Wong, Wai-shan Sammy; Wong, Chi-kin Felix; Wu, Shun-ping; Wu, Hiu-fung Jerome; Yau, Man-mut; Yau, Kin-cheong Eric; Yeung, Wai-lan; Yeung, Hon-ming Jonas; Yip, Kin-keung Edwin; Young, Pui-hong Terence; Yuan, Gao; Yuen, Yuet-ping Liz; Yuen, Chi-lap; Fung, Cheuk-wing
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
err2023-01-01
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errOAAI
errFerreira, Elise A.; Veenvliet, Annemarijne R. J.; Engelke, Udo F. H.; Kluijtmans, Leo A. J.; Huigen, Marleen C. D. G.; Hoegen, Brechtje; de Boer, Lonneke; de Vries, Maaike C.; van Bon, Bregje W.; Leenders, Erika; Cornelissen, Elisabeth A. M.; Haaxma, Charlotte A.; Schieving, Jolanda H.; Rubio-Gozalbo, M. Estela; Korver-Keularts, Irene M. L. W.; Marten, Lara M.; Diegmann, Susann; Mourmans, Jeroen; Rennings, Alexander J. M.; Karnebeek, Clara D. M. van; Rodenburg, Richard J.; Coene, Karlien L. M.
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The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts
err2022-08-01
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errOAAI
errBulthuis, Elianne P.; Einer, Claudia; Distelmaier, Felix; Groh, Laszlo; Van Emst-De Vries, Sjenet E.; Van De Westerlo, Els; Van De Wal, Melissa; Wagenaars, Jori; Rodenburg, Richard J.; Smeitink, Jan A. M.; Riksen, Niels P.; Willems, Peter H. G. M.; Adjobo-Hermans, Merel J. W.; Zischka, Hans; Koopman, Werner J. H.
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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
err2022-07-01
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errOAAI
errShintaku, Jonathan; Pernice, Wolfgang M.; Eyaid, Wafaa; Jeevan, B. G. C.; Brown, Zuben P.; Juanola-Falgarona, Marti; Torres-Torronteras, Javier; Sommerville, Ewen W.; Hellebrekers, Debby M. E. I.; Blakely, Emma L.; Donaldson, Alan; van de laar, Ingrid; Leu, Cheng-Shiun; Marti, Ramon; Frank, Joachim; Tanji, Kurenai; Koolen, David A.; Rodenburg, Richard J.; Chinnery, Patrick F.; Smeets, H. J. M.; Gorman, Grainne S.; Bonnen, Penelope E.; Taylor, Robert W.; Hirano, Michio
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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes
err2022-01-20
err27
errOAAI
errZech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, 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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DTYMK is essential for genome integrity and neuronal survival
err2021-12-17
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errOAAI
errVanoevelen, Jo M.; Bierau, Jorgen; Grashorn, Janine C.; Lambrichs, Ellen; Kamsteeg, Erik-Jan; Bok, Levinus A.; Wevers, Ron A.; van der Knaap, Marjo S.; Bugiani, Marianna; Frisk, Junmei Hu; Colnaghi, Rita; O'Driscoll, Mark; Hellebrekers, Debby M. E., I; Rodenburg, Richard; Ferreira, Carlos R.; Brunner, Han G.; van den Wijngaard, Arthur; Abdel-Salam, Ghada M. H.; Wang, Liya; Stumpel, Constance T. R. M.
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Effect of neuropsychiatric medications on mitochondrial function: For better or for worse
err2021-08-01
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errOAAI
errEmmerzaal, Tim L.; Nijkamp, Gerben; Veldic, Marin; Rahman, Shamima; Andreazza, Ana Cristina; Morava, Eva; Rodenburg, Richard J.; Kozicz, Tamas
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Soluble adenylyl cyclase regulates the cytosolic NADH/NAD+ redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation
err2021-04-01
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errOAAI
errChang, Jung-Chin; Go, Simei; Gilglioni, Eduardo H.; Duijst, Suzanne; Panneman, Daan M.; Rodenburg, Richard J.; Li, Hang Lam; Huang, Hsu-Li; Levin, Lonny R.; Buck, Jochen; Verhoeven, Arthur J.; Elferink, Ronald P. J. Oude
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Long-term treated HIV infection is associated with platelet mitochondrial dysfunction
err2021-03-18
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errOAAI
errvan der Heijden, Wouter A.; van de Wijer, Lisa; Jaeger, Martin; Grintjes, Karin; Netea, Mihai G.; Urbanus, Rolf T.; van Crevel, Reinout; van den Heuvel, Lambertus P.; Brink, Maaike; Rodenburg, Richard J.; de Groot, Philip G.; van der Ven, Andre J.; de Mast, Quirijn
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Exome sequencing in paediatric patients with movement disorders
err2021-01-15
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errOAAI
errKwong, 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
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One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
err2021-01-12
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PREAI
errEsterhuizen, Karien; Lindeque, J. Zander; Mason, Shayne; van der Westhuizen, Francois H.; Rodenburg, Richard J.; de Laat, Paul; Smeitink, Jan A. M.; Janssen, Mirian C. H.; Louw, Roan
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Loss of sdhb in zebrafish larvae recapitulates human paraganglioma characteristics
err2021-01-01
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errOAAI
errDona, Margo; Waaijers, Selma; Richter, Susan; Eisenhofer, Graeme; Korving, Jeroen; Kamel, Sarah M.; Bakkers, Jeroen; Rapizzi, Elena; Rodenburg, Richard J.; Zethof, Jan; Gorissen, Marnix; Flik, Gert; Deen, Peter M. T.; Timmers, Henri J. L. M.
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