Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

por Otten, Auke B. C., Kamps, Rick, Lindsey, Patrick, Gerards, Mike, Pendeville-Samain, Hélène, Muller, Marc, van Tienen, Florence H. J., Smeets, Hubert J. M.
Publicado 2020

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

por Theunissen, Tom E. J., Gerards, Mike, Hellebrekers, Debby M. E. I., van Tienen, Florence H., Kamps, Rick, Sallevelt, Suzanne C. E. H., Hartog, Elvira N. M. M.-D., Scholte, Hans R., Verdijk, Robert M., Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Szklarczyk, Radek, Smeets, Hubert J. M.
Publicado 2017

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

por Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A., van den Heuvel, Frederik M. A., Nijveldt, Robin, van Tilburg, Willem C. M., Buckens, Stan C. F. M., Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., Kamsteeg, Erik-Jan, van Kleef, Esmee S. B., Koene, Saskia, Smeitink, Jan A. M., Küsters, Benno, van Tienen, Florence H. J., Smeets, Hubert J. M., van Engelen, Baziel G. M., Erasmus, Corrie E., Voermans, Nicol C.
Publicado 2021