Works by Rodenburg, Richard J.

Results: 72
    1

    A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

    Published in:
    Human Mutation, 2021, v. 42, n. 2, p. 135, doi. 10.1002/humu.24137
    By:
    • Wintjes, Liesbeth T. M.;
    • Kava, Maina;
    • Brandt, Frans A.;
    • Brand, Mariël A. M.;
    • Lapina, Oksana;
    • Bliksrud, Yngve T.;
    • Kulseth, Mari A.;
    • Amundsen, Silja S.;
    • Selberg, Terje R.;
    • Ybema‐Antoine, Marion;
    • Tutakhel, Omar A. Z.;
    • Greed, Lawrence;
    • Thorburn, David R.;
    • Tangeraas, Trine;
    • Balasubramaniam, Shanti;
    • Rodenburg, Richard J. T.
    Publication type:
    Article
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    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.

    Published in:
    Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450
    By:
    • Neveling, Kornelia;
    • Feenstra, Ilse;
    • Gilissen, Christian;
    • Hoefsloot, Lies H.;
    • Kamsteeg, Erik‐Jan;
    • Mensenkamp, Arjen R.;
    • Rodenburg, Richard J. T.;
    • Yntema, Helger G.;
    • Spruijt, Liesbeth;
    • Vermeer, Sascha;
    • Rinne, Tuula;
    • Gassen, Koen L.;
    • Bodmer, Danielle;
    • Lugtenberg, Dorien;
    • Reuver, Rick;
    • Buijsman, Wendy;
    • Derks, Ronny C.;
    • Wieskamp, Nienke;
    • Heuvel, Bert;
    • Ligtenberg, Marjolijn J.L.
    Publication type:
    Article
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    Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
    By:
    • Wortmann, Saskia B;
    • Vaz, Frédéric M;
    • Gardeitchik, Thatjana;
    • Vissers, Lisenka E L M;
    • Renkema, G Herma;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Kulik, Wim;
    • Lammens, Martin;
    • Christin, Christin;
    • Kluijtmans, Leo A J;
    • Rodenburg, Richard J;
    • Nijtmans, Leo G J;
    • Grünewald, Anne;
    • Klein, Christine;
    • Gerhold, Joachim M;
    • Kozicz, Tamas;
    • van Hasselt, Peter M;
    • Harakalova, Magdalena;
    • Kloosterman, Wigard;
    • Bari?, Ivo
    Publication type:
    Article
    11
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    Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

    Published in:
    PLoS Biology, 2019, v. 17, n. 10, p. 1, doi. 10.1371/journal.pbio.3000520
    By:
    • Haq, Naila;
    • Schmidt-Hieber, Christoph;
    • Sialana, Fernando J.;
    • Ciani, Lorenza;
    • Heller, Janosch P.;
    • Stewart, Michelle;
    • Bentley, Liz;
    • Wells, Sara;
    • Rodenburg, Richard J.;
    • Nolan, Patrick M.;
    • Forsythe, Elizabeth;
    • Wu, Michael C.;
    • Lubec, Gert;
    • Salinas, Patricia C.;
    • Häusser, Michael;
    • Beales, Philip L.;
    • Christou-Savina, Sofia
    Publication type:
    Article
    13

    Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

    Published in:
    PLoS Biology, 2019, v. 17, n. 9, p. 1, doi. 10.1371/journal.pbio.3000414
    By:
    • Haq, Naila;
    • Schmidt-Hieber, Christoph;
    • Sialana, Fernando J.;
    • Ciani, Lorenza;
    • Heller, Janosch P.;
    • Stewart, Michelle;
    • Bentley, Liz;
    • Wells, Sara;
    • Rodenburg, Richard J.;
    • Nolan, Patrick M.;
    • Forsythe, Elizabeth;
    • Wu, Michael C.;
    • Lubec, Gert;
    • Salinas, P.;
    • Häusser, Michael;
    • Beales, Philip L.;
    • Christou-Savina, Sofia
    Publication type:
    Article
    14

    Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

    Published in:
    PLoS Biology, 2019, v. 17, n. 8, p. 1, doi. 10.1371/journal.pbio.3000414
    By:
    • Haq, Naila;
    • Schmidt-Hieber, Christoph;
    • Sialana, Fernando J.;
    • Ciani, Lorenza;
    • Heller, Janosch P.;
    • Stewart, Michelle;
    • Bentley, Liz;
    • Wells, Sara;
    • Rodenburg, Richard J.;
    • Nolan, Patrick M.;
    • Forsythe, Elizabeth;
    • Wu, Michael C.;
    • Lubec, Gert;
    • Salinas, P.;
    • Häusser, Michael;
    • Beales, Philip L.;
    • Christou-Savina, Sofia
    Publication type:
    Article
    15

    New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.

    Published in:
    PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831
    By:
    • Salih, Mustafa A.;
    • Mundwiller, Emeline;
    • Khan, Arif O.;
    • AlDrees, Abdulmajeed;
    • Elmalik, Salah A.;
    • Hassan, Hamdy H.;
    • Al-Owain, Mohammed;
    • Alkhalidi, Hisham M. S.;
    • Katona, Istvan;
    • Kabiraj, Mohammad M.;
    • Chrast, Roman;
    • Kentab, Amal Y.;
    • Alzaidan, Hamad;
    • Rodenburg, Richard J.;
    • Bosley, Thomas M.;
    • Weis, Joachim;
    • Koenig, Michel;
    • Stevanin, Giovanni;
    • Azzedine, Hamid
    Publication type:
    Article
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    A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 23, p. 6356, doi. 10.1093/hmg/ddu357
    By:
    • Wanschers, Bas F.J.;
    • Szklarczyk, Radek;
    • van den Brand, Mariël A.M.;
    • Jonckheere, An;
    • Suijskens, Janneke;
    • Smeets, Roel;
    • Rodenburg, Richard J.;
    • Stephan, Katharina;
    • Helland, Ingrid B.;
    • Elkamil, Areej;
    • Rootwelt, Terje;
    • Ott, Martin;
    • van den Heuvel, Lambert;
    • Nijtmans, Leo G.;
    • Huynen, Martijn A.
    Publication type:
    Article
    18

    CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 15, p. 3138, doi. 10.1093/hmg/ddt170
    By:
    • van Bon, Bregje W.M.;
    • Oortveld, Merel A.W.;
    • Nijtmans, Leo G.;
    • Fenckova, Michaela;
    • Nijhof, Bonnie;
    • Besseling, Judith;
    • Vos, Melissa;
    • Kramer, Jamie M.;
    • de Leeuw, Nicole;
    • Castells-Nobau, Anna;
    • Asztalos, Lenke;
    • Viragh, Erika;
    • Ruiter, Mariken;
    • Hofmann, Falko;
    • Eshuis, Lillian;
    • Collavin, Licio;
    • Huynen, Martijn A.;
    • Asztalos, Zoltan;
    • Verstreken, Patrik;
    • Rodenburg, Richard J.
    Publication type:
    Article
    19

    A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
    By:
    • Szklarczyk, Radek;
    • Wanschers, Bas F. J.;
    • Nijtmans, Leo G.;
    • Rodenburg, Richard J.;
    • Zschocke, Johannes;
    • Dikow, Nicola;
    • van den Brand, Mariël A. M.;
    • Hendriks-Franssen, Marthe G. M.;
    • Gilissen, Christian;
    • Veltman, Joris A.;
    • Nooteboom, Marco;
    • Koopman, Werner J. H.;
    • Willems, Peter H.G.M.;
    • Smeitink, Jan A. M.;
    • Huynen, Martijn A.;
    • van den Heuvel, Lambertus P.
    Publication type:
    Article
    20

    Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
    By:
    • Panneman, Daan M.;
    • Wortmann, Saskia B.;
    • Haaxma, Charlotte A.;
    • Hasselt, Peter M.;
    • Wolf, Nicole I.;
    • Hendriks, Yvonne;
    • Küsters, Benno;
    • Emst‐de Vries, Sjenet;
    • Westerlo, Els;
    • Koopman, Werner J.H.;
    • Wintjes, Liesbeth;
    • Brandt, Frans;
    • Vries, Maaike;
    • Lefeber, Dirk J.;
    • Smeitink, Jan A.M.;
    • Rodenburg, Richard J.
    Publication type:
    Article
    21

    Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

    Published in:
    2020
    By:
    • Molenaar, Joery P;
    • Verhoeven, Jamie I;
    • Rodenburg, Richard J;
    • Kamsteeg, Erik J;
    • Erasmus, Corrie E;
    • Vicart, Savine;
    • Behin, Anthony;
    • Bassez, Guillaume;
    • Magot, Armelle;
    • Péréon, Yann;
    • Brandom, Barbara W;
    • Guglielmi, Valeria;
    • Vattemi, Gaetano;
    • Chevessier, Frédéric;
    • Mathieu, Jean;
    • Franques, Jérôme;
    • Suetterlin, Karen;
    • Hanna, Michael G;
    • Guyant-Marechal, Lucie;
    • Snoeck, Marc M
    Publication type:
    journal article
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    Mutations in RARS cause hypomyelination.

    Published in:
    Annals of Neurology, 2014, v. 76, n. 1, p. 134, doi. 10.1002/ana.24167
    By:
    • Wolf, Nicole I.;
    • Salomons, Gajja S.;
    • Rodenburg, Richard J.;
    • Pouwels, Petra J. W.;
    • Schieving, Jolanda H.;
    • Derks, Terry G. J.;
    • Fock, Johanna M.;
    • Rump, Patrick;
    • van Beek, Daphne M.;
    • van der Knaap, Marjo S.;
    • Waisfisz, Quinten
    Publication type:
    Article
    25

    Overexpression of Akt converts radial growth melanoma to vertical growth melanoma.

    Published in:
    2007
    By:
    • Govindarajan, Baskaran;
    • Sligh, James E.;
    • Vincent, Bethaney J.;
    • Meiling Li;
    • Canter, Jeffrey A.;
    • Nickoloff, Brian J.;
    • Rodenburg, Richard J.;
    • Smeitink, Jan A.;
    • Oberley, Larry;
    • Yuping Zhang;
    • Slingerland, Joyce;
    • Arnold, Rebecca S.;
    • Lambeth, J. David;
    • Cohen, Cynthia;
    • Lu Hilenski;
    • Griendling, Kathy;
    • Martínez-Diez, Marta;
    • Cuezva, José M.;
    • Arbiser, Jack L.;
    • Li, Meiling
    Publication type:
    journal article
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    Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.

    Published in:
    Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
    By:
    • Janssen, Antoon J. M.;
    • Schuelke, Markus;
    • Smeitink, Jan A. M.;
    • Trijbels, Frans J. M.;
    • Sengers, Rob C. A.;
    • Lucke, Barbara;
    • Wintjes, Liesbeth T. M.;
    • Morava, Eva;
    • van Engelen, Baziel G. M.;
    • Smits, Bart W.;
    • Hol, Frans A.;
    • Siers, Marloes H.;
    • Ter Laak, Henk;
    • van der Knaap, Marjo S.;
    • Van Spronsen, Francjan J.;
    • Rodenburg, Richard J. T.;
    • van den Heuvel, Lambert P.
    Publication type:
    Article
    29

    X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

    Published in:
    2007
    By:
    • Fernandez-Moreira D;
    • Ugalde C;
    • Smeets R;
    • Rodenburg RJ;
    • Lopez-Laso E;
    • Ruiz-Falco ML;
    • Briones P;
    • Martin MA;
    • Smeitink JA;
    • Arenas J;
    • Fernandez-Moreira, Daniel;
    • Ugalde, Cristina;
    • Smeets, Roel;
    • Rodenburg, Richard J T;
    • Lopez-Laso, Eduardo;
    • Ruiz-Falco, Maria L;
    • Briones, Paz;
    • Martin, Miguel A;
    • Smeitink, Jan A M;
    • Arenas, Joaquín
    Publication type:
    journal article
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    A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 719, doi. 10.1007/s10545-017-0122-7
    By:
    • Smith, Amanda C.;
    • Ito, Yoko;
    • Ahmed, Afsana;
    • Schwartzentruber, Jeremy A.;
    • Beaulieu, Chandree L.;
    • Aberg, Erika;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Horsting-Wethly, Karina;
    • Koning, Diana Vermunt-de;
    • Care4Rare Canada Consortium;
    • Rodenburg, Richard J.;
    • Boycott, Kym M.;
    • Penney, Lynette S.
    Publication type:
    Article
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    Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
    By:
    • Yu, Mullin Ho-Chung;
    • Tsang, Mandy Ho-Yin;
    • Lai, Sophie;
    • Ho, Matthew Sai-Pong;
    • Tse, Donald M. L.;
    • Willis, Brooke;
    • Kwong, Anna Ka-Yee;
    • Chou, Yen-Yin;
    • Lin, Shuan-Pei;
    • Quinzii, Catarina M;
    • Hwu, Wuh-Liang;
    • Chien, Yin-Hsiu;
    • Kuo, Pao-Lin;
    • Chan, Victor Chi-Man;
    • Tsoi, Cheung;
    • Chong, Shuk-Ching;
    • Rodenburg, Richard J. T.;
    • Smeitink, Jan;
    • Mak, Christopher Chun-Yu;
    • Yeung, Kit-San
    Publication type:
    Article
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    Long-term treated HIV infection is associated with platelet mitochondrial dysfunction.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85775-5
    By:
    • van der Heijden, Wouter A.;
    • van de Wijer, Lisa;
    • Jaeger, Martin;
    • Grintjes, Karin;
    • Netea, Mihai G.;
    • Urbanus, Rolf T.;
    • van Crevel, Reinout;
    • van den Heuvel, Lambertus P.;
    • Brink, Maaike;
    • Rodenburg, Richard J.;
    • de Groot, Philip G.;
    • van der Ven, Andre J.;
    • de Mast, Quirijn
    Publication type:
    Article
    40

    Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
    By:
    • Timal, Sharita;
    • Hoischen, Alexander;
    • Lehle, Ludwig;
    • Adamowicz, Maciej;
    • Huijben, Karin;
    • Sykut-Cegielska, Jolanta;
    • Paprocka, Justyna;
    • Jamroz, Ewa;
    • van Spronsen, Francjan J.;
    • Körner, Christian;
    • Gilissen, Christian;
    • Rodenburg, Richard J.;
    • Eidhof, Ilse;
    • Van den Heuvel, Lambert;
    • Thiel, Christian;
    • Wevers, Ron A.;
    • Morava, Eva;
    • Veltman, Joris;
    • Lefeber, Dirk J.
    Publication type:
    Article
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    Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
    By:
    • Kleefstra, Tjitske;
    • Wortmann, Saskia B;
    • Rodenburg, Richard J. T.;
    • Bongers, Ernie M. H. F.;
    • Hadzsiev, Kinga;
    • Noordam, Cees;
    • Van den Heuvel, Lambert P.;
    • Nillesen, Willy M.;
    • Hollody, Katalin;
    • Gillessen-Kaesbach, Gabrielle;
    • Lammens, Martin;
    • Smeitink, Jan A. M.;
    • Van der Burgt, Ineke;
    • Morava, Eva
    Publication type:
    Article
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    Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

    Published in:
    EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356
    By:
    • Ziosi, Marcello;
    • Di Meo, Ivano;
    • Kleiner, Giulio;
    • Gao, Xing‐Huang;
    • Barca, Emanuele;
    • Sanchez‐Quintero, Maria J;
    • Tadesse, Saba;
    • Jiang, Hongfeng;
    • Qiao, Changhong;
    • Rodenburg, Richard J;
    • Scalais, Emmanuel;
    • Schuelke, Markus;
    • Willard, Belinda;
    • Hatzoglou, Maria;
    • Tiranti, Valeria;
    • Quinzii, Catarina M
    Publication type:
    Article
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