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1

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

Published 2010

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

Published 2018

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

Published 2011

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

Published 2006

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

Published 2018

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

Published 2017

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

Published 2018

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

Published 2011

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

Published 2015

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10

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

Published 2016

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11

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

Published 2006

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12

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

Published 2016

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13

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

Published 2015

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14

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

Published 2016

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15

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

Published 2018

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16

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

Published 2019

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17

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

Published 2021

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18

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

Published 2018

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19

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

Published 2012

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20

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

Published 2022

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Search Results - Rodenburg, Richard

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome by 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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