Works matching AU Rodenburg, Richard J.

Results: 72

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Published in:

Scientific Reports, 2015, p. 8035, doi. 10.1038/srep08035

By:

Blanchet, Lionel;
Smeitink, Jan A. M.;
van Emst - de Vries, Sjenet E.;
Vogels, Caroline;
Pellegrini, Mina;
Jonckheere, An I.;
Rodenburg, Richard J. T.;
Buydens, Lutgarde M. C.;
Beyrath, Julien;
Willems, Peter H. G. M.;
Koopman, Werner J. H.

Publication type:

Article

Should we be careful with exercise in post-exertional malaise after long COVID?

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56427-3

By:

Saris, Christiaan G. J.;
van Engelen, Baziel G. M.;
Janssen, Mirian C. H.;
Kusters, Benno;
Rodenburg, Richard J. T.;
Sluijs, David E.;
Voet, Nicoline B. M.

Publication type:

Article

Exome sequencing in paediatric patients with movement disorders.

Published in:

2021

By:

Kwong, Anna Ka-Yee;
Tsang, Mandy Ho-Yin;
Fung, Jasmine Lee-Fong;
Mak, Christopher Chun-Yu;
Chan, Kate Lok-San;
Rodenburg, Richard J. T.;
Lek, Monkol;
Huang, Shushu;
Pajusalu, Sander;
Yau, Man-Mut;
Tsoi, Cheung;
Fung, Sharon;
Liu, Kam-Tim;
Ma, Che-Kwan;
Wong, Sheila;
Yau, Eric Kin-Cheong;
Tai, Shuk-Mui;
Fung, Eva Lai-Wah;
Wu, Nick Shun-Ping;
Tsung, Li-Yan

Publication type:

journal article

High-Throughput Assay to Measure Oxygen Consumption in Digitonin-Permeabilized Cells of Patients with Mitochondrial Disorders.

Published in:

Clinical Chemistry, 2010, v. 56, n. 3, p. 424, doi. 10.1373/clinchem.2009.131441

By:

Jonckheere, An I.;
Huigsloot, Merei;
Janssen, Antoon J. M.;
Kappen, Antonia J. H.;
Smeitink, Jan A. M.;
Rodenburg, Richard J. T.

Publication type:

Article

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.

Published in:

Proteomics, 2009, v. 9, n. 17, p. 4221, doi. 10.1002/pmic.200900157

By:

Wessels, Hans J. C. T.;
Vogel, Rutger O.;
van den Heuvel, Lambert;
Smeitink, Jan A.;
Rodenburg, Richard J.;
Nijtmans, Leo G.;
Farhoud, Murtada H.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2012, v. 40, n. 9, p. 4040, doi. 10.1093/nar/gkr1271

By:

Wanschers, Bas F. J.;
Szklarczyk, Radek;
Pajak, Aleksandra;
van den Brand, Mariël A. M.;
Gloerich, Jolein;
Rodenburg, Richard J. T.;
Lightowlers, Robert N.;
Nijtmans, Leo G.;
Huynen, Martijn A.

Publication type:

Article

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

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80

By:

Renkema, G Herma;
Wortmann, Saskia B;
Smeets, Roel J;
Venselaar, Hanka;
Antoine, Marion;
Visser, Gepke;
Ben-Omran, Tawfeg;
van den Heuvel, Lambert P;
Timmers, Henri J L M;
Smeitink, Jan A;
Rodenburg, Richard J T

Publication type:

Article

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214

By:

Smits, Paulien;
Saada, Ann;
Wortmann, Saskia B.;
Heister, Angelien J.;
Brink, Maaike;
Pfundt, Rolph;
Miller, Chaya;
Haas, Dorothea;
Hantschmann, Ralph;
Rodenburg, Richard J. T.;
Smeitink, Jan A. M.;
van den Heuvel, Lambert P.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204

By:

Hoefs, Saskia J. G.;
van Spronsen, Francjan J.;
Lenssen, Ellen W. H.;
Nijtmans, Leo G.;
Rodenburg, Richard J.;
Smeitink, Jan A. M.;
van den Heuvel, Lambert P.

Publication type:

Article

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 275, doi. 10.1038/ejhg.2010.208

By:

Smits, Paulien;
Antonicka, Hana;
van Hasselt, Peter M.;
Weraarpachai, Woranontee;
Haller, Wolfram;
Schreurs, Marieke;
Venselaar, Hanka;
Rodenburg, Richard J.;
Smeitink, Jan A.;
van den Heuvel, Lambert P.

Publication type:

Article

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

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735

By:

Ruiter, E. Mariken;
Siers, Marloes H.;
van den Elzen, Christa;
van Engelen, Baziel G.;
Smeitink, Jan A. M.;
Rodenburg, Richard J.;
Hol, Frans A.

Publication type:

Article

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03094-0

By:

Abu Hanna, Firas;
Zehavi, Yoav;
Cohen-Barak, Eran;
Khayat, Morad;
Warwar, Nasim;
Shreter, Roni;
Rodenburg, Richard J.;
Spiegel, Ronen

Publication type:

Article

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

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression.

Published in:

PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004034

By:

Tucker, Elena J.;
Wanschers, Bas F. J.;
Szklarczyk, Radek;
Mountford, Hayley S.;
Wijeyeratne, Xiaonan W.;
van den Brand, Mariël A. M.;
Leenders, Anne M.;
Rodenburg, Richard J.;
Reljić, Boris;
Compton, Alison G.;
Frazier, Ann E.;
Bruno, Damien L.;
Christodoulou, John;
Endo, Hitoshi;
Ryan, Michael T.;
Nijtmans, Leo G.;
Huynen, Martijn A.;
Thorburn, David R.

Publication type:

Article

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

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice.

Published in:

Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0858-y

By:

Emmerzaal, Tim L.;
Preston, Graeme;
Geenen, Bram;
Verweij, Vivienne;
Wiesmann, Maximilian;
Vasileiou, Elisavet;
Grüter, Femke;
de Groot, Corné;
Schoorl, Jeroen;
de Veer, Renske;
Roelofs, Monica;
Arts, Martijn;
Hendriksen, Yara;
Klimars, Eva;
Donti, Taraka R.;
Graham, Brett H.;
Morava, Eva;
Rodenburg, Richard J.;
Kozicz, Tamas

Publication type:

Article

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

Published in:

Cardiovascular Research, 2016, v. 111, n. 4, p. 362, doi. 10.1093/cvr/cvw176

By:

Wüst, Rob C.I.;
de Vries, Heder J.;
Wintjes, Liesbeth T.;
Rodenburg, Richard J.;
Niessen, Hans W. M.;
Stienen, Ger J. M.

Publication type:

Article

Characterisation of an Adult Zebrafish Model for SDHB -Associated Phaeochromocytomas and Paragangliomas.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7262, doi. 10.3390/ijms25137262

By:

Miltenburg, Jasmijn B.;
Gorissen, Marnix;
van Outersterp, Inge;
Versteeg, Iris;
Nowak, Alex;
Rodenburg, Richard J.;
van Herwaarden, Antonius E.;
Olthaar, Andre J.;
Kusters, Benno;
Conrad, Catleen;
Timmers, Henri J. L. M.;
Dona, Margo

Publication type:

Article

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8247, doi. 10.3390/ijms24098247

By:

Conte, Federica;
Ashikov, Angel;
Mijdam, Rachel;
van de Ven, Eline G. P.;
van Scherpenzeel, Monique;
Veizaj, Raisa;
Mahalleh-Yousefi, Seyed P.;
Post, Merel A.;
Huijben, Karin;
Panneman, Daan M.;
Rodenburg, Richard J. T.;
Voermans, Nicol C.;
Garanto, Alejandro;
Koopman, Werner J. H.;
Wessels, Hans J. C. T.;
Noga, Marek J.;
Lefeber, Dirk J.

Publication type:

Article

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13484, doi. 10.3390/ijms222413484

By:

Barbosa-Gouveia, Sofia;
Vázquez-Mosquera, Maria E.;
Gonzalez-Vioque, Emiliano;
Hermida-Ameijeiras, Álvaro;
Valverde, Laura L.;
Armstrong-Moron, Judith;
Fons-Estupiña, Maria del Carmen;
Wintjes, Liesbeth T.;
Kappen, Antonia;
Rodenburg, Richard J.;
Couce, Maria L.

Publication type:

Article

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.

Published in:

Journal of Neurology, 2007, v. 254, n. 11, p. 1614, doi. 10.1007/s00415-007-0608-6

By:

Smits, Bart W.;
Hol, Frans A.;
van den Heuvel, Lambert P.;
Drost, Gea;
Rodenburg, Richard J. T.;
ter Laak, Henk J.;
van Engelen, Baziel G. M.

Publication type:

Article

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

Published in:

2019

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:

Correction Notice

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

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

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

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex- I deficiency.

Published in:

Proteomics, 2012, v. 12, n. 9, p. 1349, doi. 10.1002/pmic.201100326

By:

Farhoud, Murtada H.;
Nijtmans, Leo G.;
Wanders, Ronald J. A.;
Wessels, Hans J. C. T.;
Lasonder, Edwin;
Janssen, Antoon J. M.;
Rodenburg, Richard R. J.;
van den Heuvel, Lambert P.;
Smeitink, Jan A. M.

Publication type:

Article

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 7, p. 462, doi. 10.1002/acn3.73

By:

Ferriero, Rosa;
Boutron, Audrey;
Brivet, Michele;
Kerr, Douglas;
Morava, Eva;
Rodenburg, Richard J.;
Bonafé, Luisa;
Baumgartner, Matthias R.;
Anikster, Yair;
Braverman, Nancy E.;
Brunetti‐Pierri, Nicola

Publication type:

Article

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Published in:

Metabolomics, 2021, v. 17, n. 1, p. 1, doi. 10.1007/s11306-020-01769-w

By:

Esterhuizen, Karien;
Lindeque, J. Zander;
Mason, Shayne;
van der Westhuizen, Francois H.;
Rodenburg, Richard J.;
de Laat, Paul;
Smeitink, Jan A. M.;
Janssen, Mirian C. H.;
Louw, Roan

Publication type:

Article

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

X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Published in:

Annals of Neurology, 2007, v. 61, n. 1, p. 73

By:

Daniel Fernandez‐Moreira;
Cristina Ugalde;
Roel Smeets;
Richard J. T. Rodenburg;
Eduardo Lopez‐Laso;
Maria L. Ruiz‐Falco;
Paz Briones;
Miguel A. Martin;
Jan A. M. Smeitink;
Joaquín Arenas

Publication type:

Article

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

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Published in:

2007

By:

De Vries, Maaike C.;
Rodenburg, Richard J.;
Morava, Eva;
Van Kaauwen, Edwin P. M.;
Ter Laak, Henk;
Mullaart, Reinier A.;
Snoeck, Irina N.;
Van Hasselt, Peter M.;
Harding, Peter;
Van den Heuvel, Lambert P. W.;
Smeitink, Jan A. M.

Publication type:

journal article

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

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

Published in:

EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 311, doi. 10.15252/emmm.201506131

By:

Koopman, Werner JH;
Beyrath, Julien;
Fung, Cheuk‐Wing;
Koene, Saskia;
Rodenburg, Richard J;
Willems, Peter HGM;
Smeitink, Jan AM

Publication type:

Article

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.

Published in:

2017

By:

Allard, Neeltje A E;
Schirris, Tom J J;
Verheggen, Rebecca J;
Russel, Frans G M;
Rodenburg, Richard J;
Smeitink, Jan A M;
Thompson, Paul D;
Hopman, Maria T E;
Timmers, Silvie

Publication type:

journal article

Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity.

Published in:

2016

By:

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.

Publication type:

journal article

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

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 292, doi. 10.1002/jimd.12476

By:

van Esveld, Selma L.;
Rodenburg, Richard J.;
Al‐Murshedi, Fathiya;
Al‐Ajmi, Eiman;
Al‐Zuhaibi, Sana;
Huynen, Martijn A.;
Spelbrink, Johannes N.

Publication type:

Article

A family segregating lethal neonatal coenzyme Q10 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

The functional genomics laboratory: functional validation of genetic variants.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 297, doi. 10.1007/s10545-018-0146-7

By:

Rodenburg, Richard J.

Publication type:

Article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037

By:

Hoefs, Saskia J.G.;
Dieteren, Cindy E.J.;
Rodenburg, Richard J.;
Naess, Karin;
Bruhn, Helene;
Wibom, Rolf;
Wagena, Esther;
Willems, Peter H.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.;
van den Heuvel, Lambert P.

Publication type:

Article

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Published in:

Nature Communications, 2016, v. 7, n. 5, p. 11600, doi. 10.1038/ncomms11600

By:

Jansen, Eric J. R.;
Timal, Sharita;
Ryan, Margret;
Ashikov, Angel;
van Scherpenzeel, Monique;
Graham, Laurie A.;
Mandel, Hanna;
Hoischen, Alexander;
Iancu, Theodore C.;
Raymond, Kimiyo;
Steenbergen, Gerry;
Gilissen, Christian;
Huijben, Karin;
van Bakel, Nick H. M.;
Maeda, Yusuke;
Rodenburg, Richard J.;
Adamowicz, Maciej;
Crushell, Ellen;
Koenen, Hans;
Adams, Darius

Publication type:

Article

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Published in:

Stem Cell Research & Therapy, 2017, v. 8, p. 1, doi. 10.1186/s13287-017-0601-7

By:

Melcher, Marlen;
Danhauser, Katharina;
Seibt, Annette;
Degistirici, Özer;
Baertling, Fabian;
Kondadi, Arun Kumar;
Reichert, Andreas S.;
Koopman, Werner J. H.;
Willems, Peter H. G. M.;
Rodenburg, Richard J.;
Mayatepek, Ertan;
Meisel, Roland;
Distelmaier, Felix

Publication type:

Article

Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial function.

Published in:

European Journal of Neuroscience, 2021, v. 53, n. 9, p. 2986, doi. 10.1111/ejn.14901

By:

Emmerzaal, Tim L.;
Jacobs, Leah;
Geenen, Bram;
Verweij, Vivienne;
Morava, Eva;
Rodenburg, Richard J.;
Kozicz, Tamas

Publication type:

Article

Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone.

Published in:

International Journal of COPD, 2006, v. 1, n. 1, p. 83, doi. 10.2147/copd.2006.1.1.83

By:

Wijnhoven, Hanneke J. H.;
Ennen, Leo;
Rodenburg, Richard J. T.;
Dekhuijzen, P. N. Richard

Publication type:

Article

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

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

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 4, p. 833

By:

Felix Distelmaier;
Werner J.H. Koopman;
Lambertus P. van den Heuvel;
Richard J. Rodenburg;
Ertan Mayatepek;
Peter H.G.M. Willems;
Jan A.M. Smeitink

Publication type:

Article

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296

By:

Saskia B. Wortmann;
Richard J. T. Rodenburg;
An Jonckheere;
Maaike C. de Vries;
Marjan Huizing;
Katrin Heldt;
Lambert P. van den Heuvel;
Udo Wendel;
Leo A. Kluijtmans;
Udo F. Engelke;
Ron A. Wevers;
Jan A. M. Smeitink;
Eva Morava

Publication type:

Article

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