Richard Rodenburg
Richard Rodenburg
Clinical Laboratory Geneticist
Geverifieerd e-mailadres voor radboudumc.nl - Homepage
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Mitochondrial ATP synthase: architecture, function and pathology
AI Jonckheere, JAM Smeitink, RJT Rodenburg
Journal of inherited metabolic disease 35 (2), 211-225, 2012
3772012
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
LC Lˇpez, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ...
The American Journal of Human Genetics 79 (6), 1125-1129, 2006
3642006
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts
AJM Janssen, FJM Trijbels, RCA Sengers, JAM Smeitink, ...
Clinical chemistry 53 (4), 729-734, 2007
3482007
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease
F Distelmaier, WJH Koopman, LP van den Heuvel, RJ Rodenburg, ...
Brain 132 (4), 833-842, 2009
2962009
Overexpression of Akt converts radial growth melanoma to vertical growth melanoma
B Govindarajan, JE Sligh, BJ Vincent, M Li, JA Canter, BJ Nickoloff, ...
The Journal of clinical investigation 117 (3), 719-729, 2007
2882007
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ...
Human mutation 34 (12), 1721-1726, 2013
2752013
Mitochondrial disease criteria: diagnostic applications in children
E Morava, L van den Heuvel, F Hol, MC De Vries, M Hogeveen, ...
Neurology 67 (10), 1823-1826, 2006
2262006
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
R Carrozzo, C Dionisi-Vici, U Steuerwald, S Lucioli, F Deodato, ...
Brain 130 (3), 862-874, 2007
2002007
Enhanced number and activity of mitochondria in multiple sclerosis lesions
ME Witte, L B°, RJ Rodenburg, JA Belien, R Musters, T Hazes, LT Wintjes, ...
The Journal of Pathology: A Journal of the Pathological Society of Greatá…, 2009
1882009
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
JAM Smeitink, O Elpeleg, H Antonicka, H Diepstra, A Saada, P Smits, ...
The American Journal of Human Genetics 79 (5), 869-877, 2006
1802006
Biochemical diagnosis of mitochondrial disorders
RJT Rodenburg
Journal of inherited metabolic disease 34 (2), 283-292, 2011
1742011
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I
J Nouws, L Nijtmans, SM Houten, M van den Brand, M Huynen, ...
Cell metabolism 12 (3), 283-294, 2010
1612010
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ...
The American Journal of Human Genetics 90 (2), 314-320, 2012
1602012
A combination of proteomics, principal component analysis and transcriptomics is a powerful tool for the identification of biomarkers for macrophage maturation in the U937 cellá…
KCM Verhoeckx, S Bijlsma, EM de Groene, RF Witkamp, J van der Greef, ...
Proteomics 4 (4), 1014-1028, 2004
1602004
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
1582012
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test forá…
RH Houtkooper, RJ Rodenburg, C Thiels, H van Lenthe, F Stet, ...
Analytical biochemistry 387 (2), 230-237, 2009
1572009
Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance
B Heeman, C Van den Haute, SA Aelvoet, F Valsecchi, RJ Rodenburg, ...
Journal of cell science 124 (7), 1115-1125, 2011
1532011
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins
MA Schwab, SW Sauer, JG Okun, LGJ Nijtmans, RJT Rodenburg, ...
Biochemical Journal 398 (1), 107-112, 2006
1462006
Whole exome sequencing of suspected mitochondrial patients in clinical practice
SB Wortmann, DA Koolen, JA Smeitink, L van den Heuvel, RJ Rodenburg
Journal of inherited metabolic disease 38 (3), 437-443, 2015
1442015
Statin-induced myopathy is associated with mitochondrial complex III inhibition
TJJ Schirris, GH Renkema, T Ritschel, NC Voermans, A Bilos, ...
Cell metabolism 22 (3), 399-407, 2015
1412015
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