Works by Smeitink, Jan A.

Results: 129

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00278-0

By:

Tsang, Mandy H.Y.;
Kwong, Anna K.Y.;
Chan, Kate L.S.;
Fung, Jasmine L.F.;
Yu, Mullin H.C.;
Mak, Christopher C.Y.;
Yeung, Kit-San;
Rodenburg, Richard J.T.;
Smeitink, Jan A.M.;
Chan, Rachel;
Tsoi, Thomas;
Hui, Joannie;
Wong, Shelia S.N;
Tai, Shuk-Mui;
Chan, Victor C.M.;
Ma, Che-Kwan;
Fung, Sharon T.H.;
Wu, Shun-Ping;
Chak, W.K.;
Chung, Brian H.Y.

Publication type:

Article

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

Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency.

Published in:

Journal of Anesthesia, 2014, v. 28, n. 6, p. 807, doi. 10.1007/s00540-014-1791-0

By:

Roelofs, Suzanne;
Manjeri, Ganesh;
Willems, Peter;
Scheffer, Gert;
Smeitink, Jan;
Driessen, Jacques

Publication type:

Article

Application of a Ketogenic Diet in Children With Autistic Behavior: Pilot Study.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 2, p. 113, doi. 10.1177/08830738030180020501

By:

Evangeliou, Athanasios;
Vlachonikolis, Ioannis;
Mihailidou, Helen;
Spilioti, Martha;
Skarpalezou, Astrinia;
Makaronas, Nikolaos;
Prokopiou, Ahilleas;
Christodoulou, Panagiotis;
Liapi-Adamidou, Georgia;
Helidonis, Emmanouel;
Stylianos;
Smeitink, Jan

Publication type:

Article

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Published in:

2020

By:

van de Loo, Kim F. E.;
Custers, José A. E.;
Koene, Saskia;
Klein, Inge-Lot;
Janssen, Mirian C. H.;
Smeitink, Jan A. M.;
Verhaak, Christianne M.

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

Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells.

Published in:

Archives of Toxicology, 2023, v. 97, n. 7, p. 1927, doi. 10.1007/s00204-023-03510-7

By:

Hoogstraten, Charlotte A.;
Jacobs, Maaike M. E.;
de Boer, Guido;
van de Wal, Melissa A. E.;
Koopman, Werner J. H.;
Smeitink, Jan A. M.;
Russel, Frans G. M.;
Schirris, Tom J. J.

Publication type:

Article

The human mitochondrial ribosome recycling factor is essential for cell viability.

Published in:

Nucleic Acids Research, 2008, v. 36, n. 18, p. 5787, doi. 10.1093/nar/gkn576

By:

Rorbach, Joanna;
Richter, Ricarda;
Wessels, Hans J.;
Wydro, Mateusz;
Pekalski, Marcin;
Farhoud, Murtada;
Kühl, Inge;
Gaisne, Mauricette;
Bonnefoy, Nathalie;
Smeitink, Jan A.;
Lightowlers, Robert N.;
Chrzanowska-Lightowlers, Zofia M.A.

Publication type:

Article

Reconstructing the evolution of the mitochondrial ribosomal proteome.

Published in:

Nucleic Acids Research, 2007, v. 35, n. 14, p. 4686, doi. 10.1093/nar/gkm441

By:

Smits, Paulien;
Smeitink, Jan A. M.;
van den Heuvel, Lambert P.;
Huynen, Martijn A.;
Ettema, Thijs J. G.

Publication type:

Article

Distrubances in mitochondrial transport systems leading to encephalomyopathies.

Published in:

Biofactors, 1998, v. 7, n. 3, p. 225, doi. 10.1002/biof.5520070313

By:

Trijbels, Frans;
Huizing, Marjan;
Ruitenbeek, Wim;
Sengers, Rob;
Smeitink, Jan;
DePinto, Vito;
Wendel, Udo

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

Functional consequences of mitochondrial tRNA<sup>Trp</sup> and tRNA<sup>Arg</sup> mutations causing combined OXPHOS defects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 324, doi. 10.1038/ejhg.2009.169

By:

Smits, Paulien;
Mattijssen, Sandy;
Morava, Eva;
van den Brand, Mariël;
van den Brandt, Frans;
Wijburg, Frits;
Pruijn, Ger;
Smeitink, Jan;
Nijtmans, Leo;
Rodenburg, Richard;
van den Heuvel, Lambert

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

Defective protein glycosylation in patients with cutis laxa syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361

By:

Morava, Eva;
Wopereis, Suzan;
Coucke, Paul;
Gillessen-Kaesbach, Gabrielle;
Voit, Thomas;
Smeitink, Jan;
Wevers, Ron;
Grünewald, Stephanie

Publication type:

Article

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Published in:

Nature Genetics, 2007, v. 39, n. 4, p. 534, doi. 10.1038/ng2013

By:

Scheper, Gert C.;
van der Klok, Thom;
van Andel, Rob J.;
van Berkel, Carola G. M.;
Sissler, Marie;
Smet, Joél;
Muravina, Tatjana I.;
Serkov, Sergey V.;
Uziel, Graziella;
Bugiani, Marianna;
Schiffmann, Raphael;
Krägeloh-Mann, Ingeborg;
Smeitink, Jan A. M.;
Florentz, Catherine;
Van Coster, Rudy;
Pronk, Jan C.;
van der Knaap, Marjo S.

Publication type:

Article

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772

By:

Schuelke, Markus;
Smeitink, Jan;
Mariman, Edwin;
Loeffen, Jan;
Plecko, Barbara;
Trijbels, Frans;
Stöckler-Ipsiroglu, Sylvia;
Heuvel, Lambert van den

Publication type:

Article

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Published in:

FEBS Journal, 2005, v. 272, n. 20, p. 5317, doi. 10.1111/j.1742-4658.2005.04928.x

By:

Vogel, Rutger O.;
Janssen, Rolf J. R. J.;
Ugalde, Cristina;
Grovenstein, Melissa;
Huijbens, Richard J.;
Visch, Henk-Jan;
van den Heuvel, Lambert P.;
Willems, Peter H.;
Zeviani, Massimo;
Smeitink, Jan A. M.;
Nijtmans, Leo G. J.

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

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.

Published in:

Annals of Clinical Biochemistry, 2003, v. 40, n. 1, p. 102, doi. 10.1258/000456303321016259

By:

Ruitenbeek, Wim;
Kobayashi, Keiko;
Iijima, Mikio;
Smeitink, Jan A.M.;
Engelke, Udo F.H.;
De Abreu, Ronney A.;
Kwast, Hanneke T.;
Saheki, Takeyori;
Boelen, Carolien A.;
De Jong, Jan G. N.;
Wevers, Ron A.

Publication type:

Article

Assisted 6-minute cycling test: An exploratory study in children.

Published in:

2016

By:

Dirks, Ilse;
Koene, Saskia;
Verbruggen, Renee;
Smeitink, Jan A.M.;
Jansen, Merel;
Groot, Imelda J.M. De

Publication type:

journal 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

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 986, doi. 10.1093/hmg/ddm371

By:

Gasparre, Giuseppe;
Hervouet, Eric;
de Laplanche, Elodie;
Demont, Jocelyne;
Pennisi, Lucia Fiammetta;
Colombel, Marc;
Mège-Lechevallier, Florence;
Scoazec, Jean-Yves;
Bonora, Elena;
Smeets, Roel;
Smeitink, Jan;
Lazar, Vladimir;
Lespinasse, James;
Giraud, Sophie;
Godinot, Catherine;
Romeo, Giovanni;
Simonnet, Hélène

Publication type:

Article

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2461, doi. 10.1093/hmg/ddh262

By:

Ugalde, Cristina;
Vogel, Rutger;
Huijbens, Richard;
van den Heuvel, Bert;
Smeitink, Jan;
Nijtmans, Leo

Publication type:

Article

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 6, p. 659, doi. 10.1093/hmg/ddh071

By:

Ugalde, Cristina;
Janssen, Rolf J.R.J.;
van den Heuvel, Lambert P.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.J.

Publication type:

Article

Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 325, doi. 10.1111/j.1399-0004.1996.tb03801.x

By:

Ausems, Margreet G. E. M.;
Kroos, Marian A.;
Kraan, Magna;
Smeitink, Jan A. M.;
Kleijer, Wim J.;
Amstel, Hans Kristian Ploos;
Reuser, Arnold J. J.

Publication type:

Article

Quantitative Glucose and ATP Sensing in Mammalian Cells.

Published in:

Pharmaceutical Research, 2011, v. 28, n. 11, p. 2745, doi. 10.1007/s11095-011-0492-8

By:

Liemburg-Apers, Dania;
Imamura, Hiromi;
Forkink, Marleen;
Nooteboom, Marco;
Swarts, Herman;
Brock, Roland;
Smeitink, Jan;
Willems, Peter;
Koopman, Werner

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

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Published in:

Annals of Neurology, 2004, v. 56, n. 4, p. 560, doi. 10.1002/ana.20229

By:

Marieke J. H. Coenen;
Lambert P. van den Heuvel;
Cristina Ugalde;
Marike ten Brinke;
Leo G. J. Nijtmans;
Frans J. M. Trijbels;
Skadi Beblo;
Esther M. Maier;
Ania C. Muntau;
Jan A. M. Smeitink

Publication type:

Article

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Published in:

Annals of Neurology, 2003, v. 54, n. 5, p. 665

By:

Cristina Ugalde;
Ralf H. Triepels;
Marieke J.H. Coenen;
Lambert P. Van Den Heuvel;
Roel Smeets;
Johanna Uusimaa;
Paz Briones;
Jaume Campistol;
Kari Majamaa;
Jan A.M. Smeitink;
Leo G.J. Nijtmans

Publication type:

Article

Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.

Published in:

Annals of Neurology, 2002, v. 52, n. 1, p. 38, doi. 10.1002/ana.10232

By:

Brockmann, Knut;
Bjornstad, Alf;
Dechent, Peter;
Korenke, Christoph G.;
Smeitink, Jan;
Trijbels, J. M. Frans;
Athanassopoulos, Sabine;
Villagran, Rafael;
Skjeldal, Ola H.;
Wilichowski, Ekkehard;
Frahm, Jens;
Hanefeld, Folker

Publication type:

Article

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Published in:

2002

By:

Jordens, Eric Z.;
Palmieri, Luigi;
Huizing, Marjan;
Van Den Heuvel, Lambert P.;
Sengers, Rob C. A.;
Dörner, Andrea;
Ruitenbeek, Wim;
Trijbels, Frans J.;
Valsson, Jullius;
Sigfusson, Gunnlaugur;
Palmieri, Ferdinando;
Smeitink, Jan A. M.;
Dörner, Andrea

Publication type:

journal article

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

Published in:

2002

By:

Schuelke, Markus;
Krude, Heiko;
Finckh, Barbara;
Mayatepek, Ertan;
Janssen, Antoon;
Schmelz, Michael;
Trefz, Friedrich;
Trijbels, Frans;
Smeitink, Jan

Publication type:

journal article

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Published in:

2001

By:

Loeffen, Jan;
Elpeleg, Orly;
Smeitink, Jan;
Smeets, Roel;
Stöckler-Ipsiroglu, Sylvia;
Mandel, Hanna;
Sengers, Rob;
Trijbels, Frans;
Van Den Heuvel, Lambert;
Loeffen, J;
Elpeleg, O;
Smeitink, J;
Smeets, R;
Stöckler-Ipsiroglu, S;
Mandel, H;
Sengers, R;
Trijbels, F;
van den Heuvel, L

Publication type:

journal article

Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.

Published in:

Annals of Neurology, 2000, v. 47, n. 4, p. 552, doi. 10.1002/1531-8249(200004)47:4<552::AID-ANA28>3.0.CO;2-0

By:

Verrips, Aad;
Willemsen, Michèl A. A. P.;
Rubio-Gozalbo, Estela;
De Jong, Jan;
Smeitink, Jan A. M.

Publication type:

Article

THE GENETICS AND PATHOLOGY OF OXIDATIVE PHOSPHORYLATION.

Published in:

Nature Reviews Genetics, 2001, v. 2, n. 5, p. 342, doi. 10.1038/35072063

By:

Smeitink, Jan;
van den Heuvel, Lambert;
DiMauro, Salvatore

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

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Published in:

2004

By:

Morava, Eva;
Sengers, Rob;
Ter Laak, Henk;
Van den Heuvel, Lambert;
Janssen, Antoon;
Trijbels, Frans;
Cruysberg, Hans;
Boelen, Carolien;
Smeitink, Jan

Publication type:

journal article

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Published in:

2003

By:

Grafakou, Olga;
Oexle, Konrad;
van den Heuvel, Lambert;
Smeets, Roel;
Trijbels, Frans;
Goebel, Hans H.;
Bosshard, Nils;
Superti-Furga, Andrea;
Steinmann, Beat;
Smeitink, Jan

Publication type:

journal article

Nuclear genes and oxidative phosphorylation disorders: a review.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S227, doi. 10.1007/PL00014408

By:

Smeitink, Jan A. M.;
Sengers, Rob C. A.;
Trijbels, Frans J. M.;
van den Heuvel, Lambert P.

Publication type:

Article

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.

Published in:

BioEssays, 2001, v. 23, n. 6, p. 518, doi. 10.1002/bies.1071

By:

van den Heuvel, Lambert;
Smeitink, Jan

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