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

by Yadak, Rana, Sillevis Smitt, Peter, van Gisbergen, Marike W., van Til, Niek P., de Coo, Irenaeus F. M.
Published in Front Cell Neurosci (2017)

Using urine to diagnose large‐scale mtDNA deletions in adult patients

by Varhaug, Kristin N., Nido, Gonzalo S., de Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.
Published in Ann Clin Transl Neurol (2020)

Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

by Dimitriadis, Konstantin, Leonhardt, Miriam, Yu-Wai-Man, Patrick, Kirkman, Matthew Anthony, Korsten, Alex, De Coo, Irenaeus F, Chinnery, Patrick Francis, Klopstock, Thomas
Published 2014

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice

by Yadak, Rana, Boot, Max V., van Til, Niek P., Cazals-Hatem, Dominique, Finkenstedt, Armin, Bogaerts, Elly, de Coo, Irenaeus F., Bugiani, Marianna
Published in BMC Gastroenterol (2018)

Combined cardiological and neurological abnormalities due to filamin A gene mutation

by 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.
Published 2010

Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

by van Tienen, Florence, Zelissen, Ruby, Timmer, Erika, van Gisbergen, Marike, Lindsey, Patrick, Quattrocelli, Mattia, Sampaolesi, Maurilio, Mulder-den Hartog, Elvira, de Coo, Irenaeus, Smeets, Hubert
Published in Stem Cell Res Ther (2019)

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

by Schaaf, Gerben J., van Gestel, Tom JM, Brusse, Esther, Verdijk, Robert M., de Coo, Irenaeus FM, van Doorn, Pieter A., van der Ploeg, Ans T., Pijnappel, WWM Pim
Published in Acta Neuropathol Commun (2015)

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

by Nguyen, Minh, Boesten, Iris, Hellebrekers, Debby M E I, Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, de Coo, Irenaeus F M, Gerards, Mike, Smeets, Hubert J M
Published in Eur J Hum Genet (2016)

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

by 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.
Published in PLoS One (2021)

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency

by van Vliet, Peter, Berden, Annelies E., van Schie, Mojca K. M., Bakker, Jaap A., Heringhaus, Christian, de Coo, Irenaeus F. M., Langeveld, Mirjam, Schroijen, Marielle A., Arbous, M. Sesmu
Published in JIMD Rep (2017)

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

by Wessels, Marja W, Herkert, Johanna C, Frohn-Mulder, Ingrid M, Dalinghaus, Michiel, van den Wijngaard, Arthur, de Krijger, Ronald R, Michels, Michelle, de Coo, Irenaeus FM, Hoedemaekers, Yvonne M, Dooijes, Dennis
Published in Eur J Hum Genet (2015)

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

by 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
Published in Neuroimage Clin (2018)

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

by 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
Published 2014

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

by 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
Published in J Med Genet (2017)

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

by Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.
Published 2012

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

by 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.
Published in Front Mol Neurosci (2017)

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 in Front Neurol (2016)

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

by Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E., Hellebrekers, Debby M. E. I., Sallevelt, Suzanne C. E. H., Boesten, Iris B., de Koning, Bart, van den Bosch, Bianca J., Salomons, Gajja S., Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Vanoevelen, Jo M., Smeets, Hubert J. M.
Published in Eur J Hum Genet (2018)

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

by 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.
Published in Mol Ther Methods Clin Dev (2018)

Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

by Verkerk, Annemieke J.M.H., Schot, Rachel, van Waterschoot, Laura, Douben, Hannie, Poddighe, Pino J., Lequin, Maarten H., de Vries, Linda S., Terhal, Paulien, Hahnemann, Johanne M.D., de Coo, Irenaeus F.M., de Wit, Marie-Claire Y., Wafelman, Leontien S., Garavelli, Livia, Dobyns, William B., Van der Spek, Peter J., de Klein, Annelies, Mancini, Grazia M.S.
Published 2010