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| Full Text | Issue Date | Title | Author(s) |  | 2011 | New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS) | Calvaruso, M.A.; Willemsen, M.A.; Rodenburg, R.J.T.; Brand, M. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
 | 2011 | Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance | Heeman, B.; Haute, C. Van den; Aelvoet, S.A.; Valsecchi, F.; Rodenburg, R.J.T.; Reumers, V.; Debyser, Z.; Callewaert, G.; Koopman, W.J.H.; Willems, P.H.G.M.; Baekelandt, V. |
| | 2011 | Biochemical diagnosis of mitochondrial disorders | Rodenburg, R.J.T. |
| | 2011 | Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome | Smits, B.; Heuvel, L.P.W.J. van den; Knoop, H.; Kusters, B.; Janssen, A.; Borm, G.F.; Bleijenberg, G.; Rodenburg, R.J.T.; Engelen, B.G.M. van |
| | 2011 | Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome | Ostergaard, E.; Rodenburg, R.J.T.; Brand, M.A.M. van den; Thomsen, L.L.; Duno, M.; Batbayli, M.; Wibrand, F.; Nijtmans, L.G.J. |
| | 2011 | NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease | Hoefs, S.J.G.; Spronsen, F.J. van; Lenssen, E.W.H.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Smeitink, J.A.M.; van den Heuvel, L.P. |
| | 2011 | Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients | Tan, E.C.T.H.; Janssen, A.J.W.M.; Roestenberg, P.M.H.; Heuvel, L.P.W.J. van den; Goris, R.J.A.; Rodenburg, R.J.T. |
| | 2011 | Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology | Jonckheere, A.I.; Huigsloot, M.; Lammens, M.M.Y.; Jansen, J.; Heuvel, L.P.W.J. van den; Spiekerkoetter, U.; Kleist-Retzow, J.C. von; Forkink, M.; Koopman, W.J.H.; Szklarczyk, R.J.; Huynen, M.A.; Fransen, J.; Smeitink, J.A.M.; Rodenburg, R.J.T. |
| | 2011 | Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle | Smits, P.; Antonicka, H.; Hasselt, P.M. van; Weraarpachai, W.; Haller, W.; Schreurs, M.; Venselaar, H.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den |
| | 2011 | Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy | Smits, P.; Saada, A.; Wortmann, S.B.; Heister, A.; Brink, M.; Pfundt, R.P.; Miller, C.; Haas, D.; Hantschmann, R.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den |
| | 2011 | Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway | Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K.; Noordam, C.; Heuvel, L.P.W.J. van den; Nillesen, W.M.; Hollody, K.; Gillessen-Kaesbach, G.; Lammens, M.M.Y.; Smeitink, J.A.M.; Burgt, C.J.A.M. van der; Morava, E. |
| | 2011 | A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy | Huigsloot, M.; Nijtmans, L.G.J.; Szklarczyk, R.J.; Baars, M.J.; Brand, M.A.M. van den; Hendriksfranssen, M.G.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Huynen, M.A.; Rodenburg, R.J.T. |
| | 2010 | Depressive behaviour in children diagnosed with a mitochondrial disorder | Morava, E.; Gardeitchik, T.; Kozicz, L.T.; Boer, L. de; Koene, S.; Vries, M.C. de; McFarland, R.; Roobol, T.; Rodenburg, R.J.T.; Verhaak, C.M. |
| | 2010 | Depressive behaviour in children diagnosed with a mitochondrial disorder. | Morava, E.; Gardeitchik, T.; Kozicz, T.; Boer, L. de; Koene, S.; Vries, M.C. de; McFarland, R.; Roobol, T.; Rodenburg, R.J.T.; Verhaak, C.M. |
| | 2010 | Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. | Herzer, M.; Koch, J.; Prokisch, H.; Rodenburg, R.J.T.; Rauscher, C.; Radauer, W.; Forstner, R.; Pilz, P.; Rolinski, B.; Freisinger, P.; Mayr, J.A.; Sperl, W. |
| | 2010 | A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. | Joost, K.; Rodenburg, R.J.T.; Piirsoo, A.; Heuvel, B. van den; Zordania, R.; Ounap, K. |
| | 2010 | Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level. | Valsecchi, F.; Koopman, W.J.H.; Manjeri, G.R.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Willems, P.H.G.M. |
| | 2010 | High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders. | Jonckheere, A.I.; Huigsloot, M.; Janssen, A.J.M.; Kappen, A.J.; Smeitink, J.A.M.; Rodenburg, R.J.T. |
| | 2010 | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | Antonicka, H.; Ostergaard, E.; Sasarman, F.; Weraarpachai, W.; Wibrand, F.; Pedersen, A.M.; Rodenburg, R.J.T.; Knaap, M.S. van der; Smeitink, J.A.M.; Chrzanowska-Lightowlers, Z.M.; Shoubridge, E.A. |
| | 2010 | Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. | Hoefs, S.J.G.; Skjeldal, O.H.; Rodenburg, R.J.T.; Nedregaard, B.; Kaauwen, E. van; Spiekerkotter, U.; Kleist-Retzow, J.C. von; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den |
| | 2010 | Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. | Nouws, J.; Nijtmans, L.G.J.; Houten, S.M.; Brand, M. van den; Huijnen, M.A.; Venselaar, H.; Hoefs, S.J.G.; Gloerich, J.; Kronick, J.; Hutchin, T.; Willems, P.H.G.M.; Rodenburg, R.J.T.; Wanders, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Vogel, R.O. |
| | 2010 | Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. | Smits, P.; Mattijssen, S.; Morava, E.; Brand, M. van den; Brandt, F. van den; Wijburg, F.; Pruijn, G.J.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den |
| | 2009 | Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. | Haas, D.; Niklowitz, P.; Horster, F.; Baumgartner, E.R.; Prasad, C.; Rodenburg, R.J.T.; Hoffmann, G.F.; Menke, T.; Okun, J.G. |
| | 2009 | Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. | Distelmaier, F.; Koopman, W.J.H.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Mayatepek, E.; Willems, P.H.G.M.; Smeitink, J.A.M. |
| | 2009 | Enhanced number and activity of mitochondria in multiple sclerosis lesions. | Witte, M.E.; Bo, L.; Rodenburg, R.J.T.; Belien, J.A.; Musters, R.; Hazes, T.; Wintjes, L.T.; Smeitink, J.A.M.; Geurts, J.J.; Vries, H.E. de; Valk, P. van der; Horssen, J. van |
| | 2009 | Mitochondrial energy production correlates with the age-related BMI. | Wortmann, S.B.; Zweers-van Essen, H.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den; Vries, M.C. de; Rasmussen-Conrad, E.L.; Smeitink, J.A.M.; Morava, E. |
| | 2009 | Major depression in adolescent children consecutively diagnosed with mitochondrial disorder. | Koene, S.; Kozicz, T.L.; Rodenburg, R.J.T.; Verhaak, C.M.; Vries, M.C. de; Wortmann, S.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Morava, E. |
| | 2009 | Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. | Janssen, R.J.R.J.; Distelmaier, F.; Smeets, R.J.P.; Wijnhoven, T.J.M.; Ostergaard, E.; Jaspers, N.G.; Raams, A.; Kemp, S.; Rodenburg, R.J.T.; Willems, P.H.G.M.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2009 | Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. | Houtkooper, R.H.; Rodenburg, R.J.T.; Thiels, C.; Lenthe, H. van; Stet, F.; Poll-The, B.T.; Stone, J.E.; Steward, C.G.; Wanders, R.J.; Smeitink, J.A.M.; Kulik, W.; Vaz, F.M. |
| | 2009 | Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. | Hoefs, S.J.G.; Dieteren, C.E.J.; Rodenburg, R.J.T.; Naess, K.; Bruhn, H.; Wibom, R.; Wagena, E.; Willems, P.H.G.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den |
| | 2009 | LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes. | Wessels, H.J.; Vogel, R.O.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Rodenburg, R.J.T.; Nijtmans, L.G.J.; Farhoud, M.H. |
| | 2009 | Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays. | Willis, J.H.; Capaldi, R.A.; Huigsloot, M.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Marusich, M.F. |
| | 2009 | Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. | Wortmann, S.B.; Rodenburg, R.J.T.; Jonckheere, A.I.; Vries, M.C. de; Huizing, M.; Heldt, K.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.; Kluijtmans, L.A.J.; Engelke, U.F.H.; Wevers, R.A.; Smeitink, J.A.M.; Morava, E. |
| | 2008 | Major depression in adolescent children consecutively diagnosed with mithochondrial disorder | Koene, S.; Kozicz, L.T.; Rodenburg, R.J.T.; Verhaak, C.M.; Vries, M.C. de; Heuvel, L. van de; Smeitink, J.A.M.; Morava, E. |
| | 2008 | MR spectroscopy of the brain in Leigh syndrome. | Sijens, P.E.; Smit, G.P.; Rodiger, L.A.; Spronsen, FJ Van; Oudkerk, M.; Rodenburg, R.J.T.; Lunsing, R.J. |
| | 2008 | Mitochondrial complex V expression and activity in cystinotic fibroblasts. | Wilmer, M.J.G.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Vogel, R.O.; Nijtmans, L.G.J.; Monnens, L.A.H.; Levtchenko, E.N. |
| | 2008 | Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. | Engelmann, G.; Meyburg, J.; Shahbek, N.; Al-Ali, M.; Hairetis, M.H.; Baker, A.J.; Rodenburg, R.J.T.; Wenning, D.; Flechtenmacher, C.; Ellard, S.; Smeitink, J.A.M.; Hoffmann, G.F.; Buchanan, C.R. |
| | 2008 | A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. | Jonckheere, A.I.; Hogeveen, M.; Nijtmans, L.G.J.; Brand, M.A.M. van den; Janssen, A.J.M.; Diepstra, J.H.S.; Brandt, FC van den; Heuvel, L.P.W.J. van den; Hol, F.A.; Hofste, T.G.; Kapusta, L.; Dillmann, U.; Shamdeen, M.G.; Smeitink, J.A.M.; Rodenburg, R.J.T. |
| | 2007 | Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. | Smits, B.W.; Hol, F.A.; Heuvel, L.P.W.J. van den; Drost, G.; Rodenburg, R.J.T.; Laak, H.J. ter; Engelen, B.G.M. van |
| | 2007 | Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. | Glind, G. van de; Vries, M. de; Rodenburg, R.J.T.; Hol, F.A.; Smeitink, J.A.M.; Morava, E. |
| | 2007 | Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. | Wortmann, S.B.; Rodenburg, R.J.T.; Schwahn, B.; Smeitink, J.A.M.; Morava, E. |
| | 2007 | Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome. | Morava, E.; Bongers, E.M.H.F.; Kress, W.; Sie, L.T.L.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den; Brunner, H.G. |
| | 2007 | Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. | Lohmeier, K.; Distelmaier, F.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Smeitink, J.A.M.; Mayatepek, E.; Hoehn, T. |
| | 2007 | Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. | Ugalde, C.; Hinttala, R.; Timal, S.; Smeets, R.; Rodenburg, R.J.T.; Uusimaa, J.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.; Majamaa, K.; Smeitink, J.A.M. |
| | 2007 | The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. | Ruiter, E.M.; Siers, M.H.; Elzen, C. van der; Engelen, B.G.M. van; Smeitink, J.A.M.; Rodenburg, R.J.T.; Hol, F.A. |
| | 2007 | Parents of children with enduring epilepsy: predictors of parenting stress and parenting. | Rodenburg, R.J.T.; Meijer, A.M.; Dekovic, M.; Aldenkamp, A.P. |
| | 2007 | Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. | Vries, M.C. de; Rodenburg, R.J.T.; Morava, E.; Kaauwen, P.M. van; Laak, H.J. ter; Mullaart, R.A.; Snoeck, I.N.; Hasselt, P.M. van; Harding, P.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M. |
| | 2007 | X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. | Fernandez-Moreira, D.; Ugalde, C.; Smeets, R.; Rodenburg, R.J.T.; Lopez-Laso, E.; Ruiz-Falco, M.L.; Briones, P.; Martin, M.A.; Smeitink, J.A.M.; Arenas, J. |
| | 2007 | Early cardiac involvement in children carrying the A3243G mtDNA mutation. | Wortmann, S.B.; Rodenburg, R.J.T.; Backx, A.P.C.M.; Schmitt, E.; Smeitink, J.A.M.; Morava, E. |
 | 2007 | Overexpression of Akt converts radial growth melanoma to vertical growth melanoma. | Govindarajan, B.; Sligh, J.E.; Vincent, B.J.; Li, M.; Canter, J.A.; Nickoloff, B.J.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Oberley, L.; Zhang, Y.; Slingerland, J.; Arnold, R.S.; Lambeth, J.D.; Cohen, C.; Hilenski, L.; Griendling, K.; Martinez-Diez, M.; Cuezva, J.M.; Arbiser, J.L. |
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