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

by Auke B. C. Otten, Auke B. C. Otten, Auke B. C. Otten, Rick Kamps, Rick Kamps, Patrick Lindsey, Patrick Lindsey, Mike Gerards, Hélène Pendeville-Samain, Marc Muller, Florence H. J. van Tienen, Florence H. J. van Tienen, Hubert J. M. Smeets, Hubert J. M. Smeets, Hubert J. M. Smeets
Published 2020-06-01

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

by Tom E. J. Theunissen, Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets, Hubert J. M. Smeets, Hubert J. M. Smeets
Published 2017-10-01

Plasma GDF-15 concentration is not elevated in open-angle glaucoma.

by Wouter H G Hubens, Mariëlle T Kievit, Tos T J M Berendschot, Irenaeus F M de Coo, Hubert J M Smeets, Carroll A B Webers, Theo G M F Gorgels
Published 2021-01-01

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

by Roy A.M. Haast, Dimo Ivanov, Rutger J.T. IJsselstein, Suzanne C.E.H. Sallevelt, Jacobus F.A. Jansen, Hubert J.M. Smeets, Irenaeus F.M. de Coo, Elia Formisano, Kâmil Uludağ
Published 2018-01-01

Myelin-derived lipids modulate macrophage activity by liver X receptor activation.

by Jeroen F J Bogie, Silke Timmermans, Vân Anh Huynh-Thu, Alexandre Irrthum, Hubert J M Smeets, Jan-Åke Gustafsson, Knut R Steffensen, Monique Mulder, Piet Stinissen, Niels Hellings, Jerome J A Hendriks
Published 2012-01-01

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

by Tom E. J. Theunissen, Tom E. J. Theunissen, Minh Nguyen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Radek Szklarczyk, Mike Gerards, Mike Gerards, Irenaeus F. M. de Coo, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets, Hubert J. M. Smeets
Published 2018-10-01

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

by Auke B.C. Otten, Tom E.J. Theunissen, Josien G. Derhaag, Ellen H. Lambrichs, Iris B.W. Boesten, Marie Winandy, Aafke P.A. van Montfoort, Katsiaryna Tarbashevich, Erez Raz, Mike Gerards, Jo M. Vanoevelen, Bianca J.C. van den Bosch, Marc Muller, Hubert J.M. Smeets
Published 2016-07-01

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

by Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz R Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group
Published 2020-01-01

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

by Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz A Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group
Published 2021-01-01

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

by Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans
Published 2021-08-01

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

by Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Published 2018-07-01