Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

por Yadak, Rana, Sillevis Smitt, Peter, van Gisbergen, Marike W., van Til, Niek P., de Coo, Irenaeus F. M.
Publicado 2017

Combined cardiological and neurological abnormalities due to filamin A gene mutation

por de Wit, Marie Claire Y., de Coo, Irenaeus F. M., Lequin, Maarten H., Halley, Dicky J. J., Roos-Hesselink, Jolien W., Mancini, Grazia M. S.
Publicado 2010

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients

por Haast, Roy A. M., De Coo, Irenaeus F. M., Ivanov, Dimo, Khan, Ali R., Jansen, Jacobus F. A., Smeets, Hubert J. M., Uludağ, Kâmil
Publicado 2022

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

por Hubens, Wouter H. G., Kievit, Mariëlle T., Berendschot, Tos T. J. M., de Coo, Irenaeus F. M., Smeets, Hubert J. M., Webers, Carroll A. B., Gorgels, Theo G. M. F.
Publicado 2021

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

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

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

por Björkman, Kristoffer, Vissing, John, Østergaard, Elsebet, Bindoff, Laurence A, de Coo, Irenaeus F M, Engvall, Martin, Hikmat, Omar, Isohanni, Pirjo, Kollberg, Gittan, Lindberg, Christopher, Majamaa, Kari, Naess, Karin, Uusimaa, Johanna, Tulinius, Mar, Darin, Niklas
Publicado 2023

A multicenter study on Leigh syndrome: disease course and predictors of survival

por Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Már, Darin, Niklas
Publicado 2014

De novo mtDNA point mutations are common and have a low recurrence risk

por Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Publicado 2017

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

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

por 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.
Publicado 2016

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

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

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

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

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

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

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

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

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

por Hayhurst, Hannah, de Coo, Irenaeus F. M., Piekutowska‐Abramczuk, Dorota, Alston, Charlotte L., Sharma, Sunil, Thompson, Kyle, Rius, Rocio, He, Langping, Hopton, Sila, Ploski, Rafal, Ciara, Elzbieta, Lake, Nicole J., Compton, Alison G., Delatycki, Martin B., Verrips, Aad, Bonnen, Penelope E., Jones, Simon A., Morris, Andrew A., Shakespeare, David, Christodoulou, John, Wesol‐Kucharska, Dorota, Rokicki, Dariusz, Smeets, Hubert J. M., Pronicka, Ewa, Thorburn, David R., Gorman, Grainne S., McFarland, Robert, Taylor, Robert W., Ng, Yi Shiau
Publicado 2019

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

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