The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?
Mposhi, Archibold, Liang, Lin, Mennega, Kevin P, Yildiz, Dilemin, Kampert, Crista, Hof, Ingrid H, Jellema, Pytrick G, de Koning, Tom J, Faber, Klaas Nico, Ruiters, Marcel H J, Niezen-Koning, Klary E, Rots, Marianne G
Published in International journal of molecular sciences (16.02.2022)
Published in International journal of molecular sciences (16.02.2022)
Get full text
Journal Article
Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease
Groenen, Anouk G., La Rose, Anouk M., Li, Mengying, Bazioti, Venetia, Svendsen, Arthur F., Kloosterhuis, Niels J., Ausema, Albertina, Pranger, Alle, Heiner-Fokkema, M. Rebecca, Niezen-Koning, Klary E., Houben, Tom, Shiri-Sverdlov, Ronit, Westerterp, Marit
Published in Journal of lipid research (01.02.2022)
Published in Journal of lipid research (01.02.2022)
Get full text
Journal Article
Gut Microbiome Composition in Dystonia Patients
Timmers, Elze R, Swarte, J Casper, Gacesa, Ranko, Björk, Johannes R, Weersma, Rinse K, Tijssen, Marina A J, de Koning, Tom J, Harmsen, Hermie J M, Niezen-Koning, Klary E
Published in International journal of molecular sciences (25.01.2023)
Published in International journal of molecular sciences (25.01.2023)
Get full text
Journal Article
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Touw, Catharina M L, Smit, G Peter A, Niezen-Koning, Klary E, Bosgraaf-de Boer, Conny, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry G J
Published in Orphanet journal of rare diseases (20.03.2013)
Published in Orphanet journal of rare diseases (20.03.2013)
Get full text
Journal Article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Published in Orphanet journal of rare diseases (25.05.2012)
Published in Orphanet journal of rare diseases (25.05.2012)
Get full text
Journal Article
Ventricular Fibrillation Without Overt Cardiomyopathy as First Presentation of Organic Cation Transporter 2‐Deficiency in Adolescence
RIJLAARSDAM, RENSKE S., SPRONSEN, FRANCJAN J. VAN, BINK‐BOELKENS, MARGREET TH.E., REIJNGOUD, DIRK‐JAN, WANDERS, RONALD J.A., NIEZEN‐KONING, KLARY E., VAN DER SLUIJS, FJODOR H., DORLAND, BERT, BEAUFORT‐KROL, GERTIE C.M.
Published in Pacing and clinical electrophysiology (01.05.2004)
Published in Pacing and clinical electrophysiology (01.05.2004)
Get full text
Journal Article
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Almomani, Rowida, Herkert, Johanna C, Posafalvi, Anna, Post, Jan G, Boven, Ludolf G, van der Zwaag, Paul A, Willems, Peter H G M, van Veen-Hof, Ingrid H, Verhagen, Judith M A, Wessels, Marja W, Nikkels, Peter G J, Wintjes, Liesbeth T, van den Berg, Maarten P, Sinke, Richard J, Rodenburg, Richard J, Niezen-Koning, Klary E, van Tintelen, J Peter, Jongbloed, Jan D H
Published in Journal of medical genetics (01.01.2020)
Published in Journal of medical genetics (01.01.2020)
Get full text
Journal Article
Protease activity of plasma hemopexin
Bakker, Winston W., Borghuis, Theo, Harmsen, Martin C., Van den Berg, Anke, Kema, Ido P., Niezen, Klary E., Kapojos, Jola J.
Published in Kidney international (01.08.2005)
Published in Kidney international (01.08.2005)
Get full text
Journal Article
Translational Targeted Proteomics Profiling of Mitochondrial Energy Metabolic Pathways in Mouse and Human Samples
Wolters, Justina C, Ciapaite, Jolita, van Eunen, Karen, Niezen-Koning, Klary E, Matton, Alix, Porte, Robert J, Horvatovich, Peter, Bakker, Barbara M, Bischoff, Rainer, Permentier, Hjalmar P
Published in Journal of proteome research (02.09.2016)
Published in Journal of proteome research (02.09.2016)
Get full text
Journal Article
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
Timmers, Elze R., van Faassen, Martijn, Smit, Marenka, Kuiper, Anouk, Hof, Ingrid H., Kema, Ido P., Tijssen, Marina A.J., Niezen-Koning, Klary E., de Koning, Tom J.
Published in Parkinsonism & related disorders (01.10.2021)
Published in Parkinsonism & related disorders (01.10.2021)
Get full text
Journal Article
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
Wiltink, Rachel C, Kruijshaar, Michelle E, van Minkelen, Rick, Onkenhout, Willem, Verheijen, Frans W, Kemper, Evelien A, van Spronsen, Francjan J, van der Ploeg, Ans T, Niezen-Koning, Klary E, Saris, Jasper J, Williams, Monique
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
Get full text
Journal Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick F., Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Demirkol, Mübeccel, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew A., Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rossella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian C., Sperl, Wolfgang, Spiekerkoetter, Ute, Steinmann, Beat, Taddeucci, Grazia, Trejo-Gabriel-Galán, Jose M., Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
Get full text
Journal Article
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients
Timmers, Elze R, Plösch, Torsten, Smit, Marenka, Hof, Ingrid H, Verkaik-Schakel, Rikst Nynke, Tijssen, Marina A J, de Koning, Tom J, Niezen-Koning, Klary E
Published in Clinical epigenetics (11.12.2022)
Published in Clinical epigenetics (11.12.2022)
Get full text
Journal Article
Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT): Cloning of the Human SCOT Gene, Tertiary Structural Modeling of the Human SCOT Monomer, and Characterization of Three Pathogenic Mutations
Fukao, Toshiyuki, Mitchell, Grant A., Song, Xiang-Qian, Nakamura, Haruki, Kassovska-Bratinova, Sacha, Orii, Kenji E., Wraith, James E., Besley, Guy, Wanders, Ronald J.A., Niezen-Koning, Klary E., Berry, Gerard T., Palmieri, Michael, Kondo, Naomi
Published in Genomics (San Diego, Calif.) (01.09.2000)
Published in Genomics (San Diego, Calif.) (01.09.2000)
Get full text
Journal Article
Association between methylation of the SLC6A4 promoter region in peripheral blood leukocytes and methylation in amygdala tissue
Riese, Harriette, van den Heuvel, Edwin R, Snieder, Harold, den Dunnen, Wilfred F, Plosch, Torsten, Kema, Ido P, Niezen-Koning, Klary E
Published in Psychosomatic medicine (01.04.2014)
Published in Psychosomatic medicine (01.04.2014)
Get more information
Journal Article
Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
van Maldegem, Bianca T, Duran, Marinus, Wanders, Ronald J. A, Niezen-Koning, Klary E, Hogeveen, Marije, Ijlst, Lodewijk, Waterham, Hans R, Wijburg, Frits A
Published in JAMA : the journal of the American Medical Association (23.08.2006)
Published in JAMA : the journal of the American Medical Association (23.08.2006)
Get full text
Journal Article
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants
van Kuilenburg, André B P, Pleunis-van Empel, Marjolein C H, Brouwer, Rick B, Sijben, Angelique E J, Knapen, Daan G, Oude Munnink, Thijs H, van Zanden, Jelmer J, Janssens-Puister, Jenny, Dobritzsch, Doreen, Meinsma, Rutger, Meijer-Jansen, Judith, van Dooren, Silvy J M, Vijzelaar, Raymon, Pop, Ana, Salomons, Gajja S, Maring, Jan Gerard, Niezen-Koning, Klary E
Published in JCO precision oncology (01.05.2024)
Published in JCO precision oncology (01.05.2024)
Get more information
Journal Article
Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders
van Eunen, Karen, Volker-Touw, Catharina M L, Gerding, Albert, Bleeker, Aycha, Wolters, Justina C, van Rijt, Willemijn J, Martines, Anne-Claire M F, Niezen-Koning, Klary E, Heiner, Rebecca M, Permentier, Hjalmar, Groen, Albert K, Reijngoud, Dirk-Jan, Derks, Terry G J, Bakker, Barbara M
Published in BMC biology (07.12.2016)
Published in BMC biology (07.12.2016)
Get full text
Journal Article
Vascular Contraction and Preeclampsia: Downregulation of the Angiotensin Receptor 1 by Hemopexin In Vitro
Bakker, Winston W, Henning, Rob H, van Son, Willem J, van Pampus, Maria G, Aarnoudse, Jan G, Niezen-Koning, Klary E, Borghuis, Theo, Jongman, Rianne M, van Goor, Harry, Poelstra, Klaas, Navis, Gerjan, Faas, Marijke M
Published in Hypertension (Dallas, Tex. 1979) (01.06.2009)
Published in Hypertension (Dallas, Tex. 1979) (01.06.2009)
Get full text
Journal Article