In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

por Touw, Catharina ML, Smit, G Peter A, Niezen-Koning, Klary E, Boer, Conny Bosgraaf-de, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry GJ
Publicado 2013

Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients

por 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.
Publicado 2022

Gut Microbiome Composition in Dystonia Patients

por 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.
Publicado 2023

The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?

por 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.
Publicado 2022

Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease

por 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
Publicado 2022

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders

por 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.
Publicado 2016

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

por 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
Publicado 2012