检索结果 - Richard J. Rodenburg

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  1. 1
    Biochemical diagnosis of mitochondrial disorders

    Biochemical diagnosis of mitochondrial disorders 由 Richard J. Rodenburg

    出版 2010
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  2. 2
    Mitochondrial complex I-linked disease

    Mitochondrial complex I-linked disease 由 Richard J. Rodenburg

    出版 2016
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  3. 3
    The functional genomics laboratory: functional validation of genetic variants

    The functional genomics laboratory: functional validation of genetic variants 由 Richard J. Rodenburg

    出版 2018
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  4. 4
    Mitochondrial ATP synthase: architecture, function and pathology

    Mitochondrial ATP synthase: architecture, function and pathology 由 An I. Jonckheere, Jan Smeitink, Richard J. Rodenburg

    出版 2011
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  5. 5
    Whole exome sequencing of suspected mitochondrial patients in clinical practice

    Whole exome sequencing of suspected mitochondrial patients in clinical practice 由 Saskia B. Wortmann, David A. Koolen, Jan Smeitink, Lambert den van Heuvel, Richard J. Rodenburg

    出版 2015
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  6. 6
    Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

    Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations 由 Luís C. López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano

    出版 2006
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  7. 7
    Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure

    Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure 由 Rob C. I. Wüst, Heder de Vries, Liesbeth T. Wintjes, Richard J. Rodenburg, Hans W.M. Niessen, Ger J.M. Stienen

    出版 2016
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  8. 8
    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia 由 Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

    出版 2018
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  9. 9
    The antiinflammatory drug sulfasalazine inhibits tumor necrosis factor α expression in macrophages by inducing apoptosis

    The antiinflammatory drug sulfasalazine inhibits tumor necrosis factor α expression in macrophages by inducing apoptosis 由 Richard J. Rodenburg, Anuradha Ganga, Peter L. E. M. van Lent, Leo B. A. Van De Putte, Walther J. Van Venrooij

    出版 2000
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  10. 10
    Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

    Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation 由 Paul de Laat, Saskia Koene, Lambert P. W. J. den van Heuvel, Richard J. Rodenburg, Mirian C. H. Janssen, Jan Smeitink

    出版 2012
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  11. 11
    Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

    Mitochondrial disorders in children: toward development of small‐molecule treatment strategies 由 Werner J.H. Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J. Rodenburg, Peter H.G.M. Willems, Jan Smeitink

    出版 2016
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  12. 12
    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 由 Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

    出版 2015
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  13. 13
    Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

    Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease 由 Felix Distelmaier, Werner J.H. Koopman, Lambertus P. van den Heuvel, Richard J. Rodenburg, Ertan Mayatepek, Peter H.G.M. Willems, Jan Smeitink

    出版 2008
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  14. 14
    NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

    NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease 由 Saskia J.G. Hoefs, Francjan J. van Spronsen, Ellen W H Lenssen, Leo Nijtmans, Richard J. Rodenburg, Jan Smeitink, Lambert P. van den Heuvel

    出版 2010
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  15. 15
    Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

    Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive 由 Fabian Baertling, Fathiya Al-Murshedi, Laura Sánchez‐Caballero, Khalfan S. Al-Senaidi, Niranjan Joshi, Hanka Venselaar, Mariël A. van den Brand, Leo Nijtmans, Richard J. Rodenburg

    出版 2017
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  16. 16
    C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

    C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation 由 Bas F.J. Wanschers, Radek Szklarczyk, Aleksandra Pajak, Mariël A.M. van den Brand, Jolein Gloerich, Richard J. Rodenburg, Robert N. Lightowlers, Leo Nijtmans, Martijn A. Huynen

    出版 2012
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  17. 17
    A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency

    A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency 由 Anna Ka‐Yee Kwong, Annie Ting Gee Chiu, Mandy Ho‐Yin Tsang, Kin‐Shing Lun, Richard J. Rodenburg, Jan Smeitink, Brian Hon‐Yin Chung, Cheuk‐Wing Fung

    出版 2019
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  18. 18
    Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

    Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake 由 Christine Nabuurs, Chi‐un Choe, Andor Veltien, Hermien E. Kan, Luc J. C. van Loon, Richard J. Rodenburg, Jakob Matschke, Bé Wieringa, Graham J. Kemp, Dirk Isbrandt, Arend Heerschap

    出版 2012
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  19. 19
    SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

    SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors 由 G. Herma Renkema, Saskia B. Wortmann, Roel Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben‐Omran, Lambert P. van den Heuvel, Henri Timmers, Jan Smeitink, Richard J. Rodenburg

    出版 2014
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  20. 20
    Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

    Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts 由 A.J.M. Janssen, Frans J.M. Trijbels, R. C. A. Sengers, Jan Smeitink, Lambert P. van den Heuvel, Liesbeth T. Wintjes, Berendien J M Stoltenborg-Hogenkamp, Richard J. Rodenburg

    出版 2007
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