Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

by Bakker, Jaap A., Schlesser, Patrick, Smeets, Hubert J. M., Francois, Baudouin, Bierau, Jörgen
Published 2010

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

by van der Lee, Robin, Szklarczyk, Radek, Smeitink, Jan, Smeets, Hubert J M, Huynen, Martijn A., Vogel, Rutger
Published 2015

Myelin-Derived Lipids Modulate Macrophage Activity by Liver X Receptor Activation

by Bogie, Jeroen F. J., Timmermans, Silke, Huynh-Thu, Vân Anh, Irrthum, Alexandre, Smeets, Hubert J. M., Gustafsson, Jan-Åke, Steffensen, Knut R., Mulder, Monique, Stinissen, Piet, Hellings, Niels, Hendriks, Jerome J. A.
Published 2012

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

by Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Published 2016

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

by Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F
Published 2016

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

by van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Published 2016