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

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

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

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

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

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

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

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

Combined cardiological and neurological abnormalities due to filamin A gene mutation

ανά 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.
Έκδοση 2010

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

ανά 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
Τόπος έκδοσης Stem Cell Res Ther (2019)

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

ανά 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
Τόπος έκδοσης Acta Neuropathol Commun (2015)

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2016)

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

ανά 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.
Τόπος έκδοσης PLoS One (2021)

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

ανά 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
Τόπος έκδοσης JIMD Rep (2017)

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2015)

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

ανά 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
Τόπος έκδοσης Neuroimage Clin (2018)

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

ανά 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
Έκδοση 2014

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

ανά 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
Τόπος έκδοσης J Med Genet (2017)

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

ανά 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.
Έκδοση 2012

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

ανά 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.
Τόπος έκδοσης Front Mol Neurosci (2017)

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

ανά 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.
Τόπος έκδοσης Front Neurol (2016)

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

ανά 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.
Τόπος έκδοσης Eur J Hum Genet (2018)

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

ανά 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.
Τόπος έκδοσης Mol Ther Methods Clin Dev (2018)

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

ανά 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.
Έκδοση 2010