Rezultati - Rodenburg, Richard J.

Biochemical diagnosis of mitochondrial disorders od Rodenburg, Richard J. T.

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

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Mitochondrial ATP synthase: architecture, function and pathology od Jonckheere, An I., Smeitink, Jan A. M., Rodenburg, Richard J. T.

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Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation od de Laat, Paul, Rodenburg, Richard J., Smeitink, Jan A. M., Janssen, Mirian C. H.

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4‐Hydroxybenzoic acid restores CoQ(10) biosynthesis in human COQ2 deficiency od Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix

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Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model od Foriel, Sarah, Beyrath, Julien, Eidhof, Ilse, Rodenburg, Richard J., Schenck, Annette, Smeitink, Jan A. M.

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Cardiac Arrest in Kearns–Sayre Syndrome od van Beynum, Ingrid, Morava, Eva, Taher, Marjan, Rodenburg, Richard J., Karteszi, Judit, Toth, Kalman, Szabados, Eszter

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

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

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Leigh Syndrome with Nephropathy and CoQ(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations od López, Luis Carlos , Schuelke, Markus , Quinzii, Catarina M. , Kanki, Tomotake , Rodenburg, Richard J. T. , Naini, Ali , DiMauro, Salvatore , Hirano, Michio 

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SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) od Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.

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Three families with ‘de novo’ m.3243A > G mutation od de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.

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

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A Drosophila Mitochondrial Complex I Deficiency Phenotype Array od Foriel, Sarah, Renkema, G. Herma, Lasarzewski, Yvonne, Berkhout, Job, Rodenburg, Richard J., Smeitink, Jan A. M., Beyrath, Julien, Schenck, Annette

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency od Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing

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Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes od Bosch, Annet M., Kamsteeg, Erik-Jan, Rodenburg, Richard J., van Deutekom, Arend W., Buis, Dennis R., Engelen, Marc, Cobben, Jan-Maarten

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Inheritance of the m.3243A>G mutation od de Laat, Paul, Koene, Saskia, Heuvel, Lambert P. W. J. vd, Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

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Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome od van Esveld, Selma L., Rodenburg, Richard J., Al‐Murshedi, Fathiya, Al‐Ajmi, Eiman, Al‐Zuhaibi, Sana, Huynen, Martijn A., Spelbrink, Johannes N.

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

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Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity od Sente, Tahnee, Van Berendoncks, An M., Jonckheere, An I., Rodenburg, Richard J., Lauwers, Patrick, Van Hoof, Viviane, Wouters, An, Lardon, Filip, Hoymans, Vicky Y., Vrints, Christiaan J.

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