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

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

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

by Rana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, Marianna Bugiani, Joost C. Haeck, Marshall W. Huston, Elly Bogaerts, Steffi Goffart, Edwin H. Jacobs, Merel Stok, Lorena Leonardelli, Luca Biasco, Robert M. Verdijk, Monique R. Bernsen, George Ruijter, Ramon Martí, Gerard Wagemaker, Niek P. van Til, Irenaeus F.M. de Coo
Published 2018-03-01

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

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

by Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Published 2017-05-01

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

by Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Published 2017-08-01

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