检索结果 - Rodenburg, Richard

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

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

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

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Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone 由 Wijnhoven, Hanneke JH, Ennen, Leo, Rodenburg, Richard JT, Dekhuijzen, PN Richard

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Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation 由 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 由 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 由 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 由 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 由 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 由 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 由 López, Luis Carlos , Schuelke, Markus , Quinzii, Catarina M. , Kanki, Tomotake , Rodenburg, Richard J. T. , Naini, Ali , DiMauro, Salvatore , Hirano, Michio 

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Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation 由 Verhaak, Christianne, de Laat, Paul, Koene, Saskia, Tibosch, Marijke, Rodenburg, Richard, de Groot, Imelda, Knoop, Hans, Janssen, Mirian, Smeitink, Jan

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SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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