Search Results - "De Coo, Irenaeus F M"

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

“…Aim Recently, the level of growth differentiation factor 15 (GDF-15) in blood, was proposed as biomarker to detect mitochondrial dysfunction. In the current…”
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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene by GERARDS, Mike, VAN DEN BOSCH, Bianca J. C, PROKISCH, Holger, RÖTIG, Agnès, DE COO, Irenaeus F. M, SMELTS, Hubert J. M, DANHAUSER, Katharina, SERRE, Valérie, VAN WEEGHEL, Michel, WANDERS, Ronald J. A, NICOLAES, Gerry A. F, SLUITER, Wim, SCHOONDERWOERD, Kees, SCHOLTE, Hans R

“…Mitochondrial complex I deficiency is the most common oxidative phosphorylation defect. Mutations have been detected in mitochondrial and nuclear genes, but…”
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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients by Sofou, Kalliopi, de Coo, Irenaeus F M, Ostergaard, Elsebet, Isohanni, Pirjo, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, Lönnqvist, Tuula, Bindoff, Laurence Albert, Tulinius, Már, Darin, Niklas

“…Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described…”
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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.

“…Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the outer…”
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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

“…Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation…”
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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

“…Background Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with…”
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study by 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

“…Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of…”
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Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease by Schaaf, Gerben J, van Gestel, Tom J M, Brusse, Esther, Verdijk, Robert M, de Coo, Irenaeus F M, van Doorn, Pieter A, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…Muscle stem cells termed satellite cells are essential for muscle regeneration. A central question in many neuromuscular disorders is why satellite cells are…”
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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

“…Severe, disease-causing germline mitochondrial (mt)DNA mutations are maternally inherited or arise de novo. Strategies to prevent transmission are generally…”
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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

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency. The…”
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Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity by Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F.M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J.W., Bevova, Marianna R., Abbink, Truus E.M., van der Knaap, Marjo S., Wolf, Nicole I.

“…Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging. Indeed, nearly half of the children…”
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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

“…This study aims to identify gene defects in pediatric cardiomyopathy and early-onset brain disease with oxidative phosphorylation (OXPHOS) deficiencies. We…”
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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency by Guo, Le, Engelen, Bob P H, Hemel, Irene M G M, de Coo, Irenaeus F M, Vreeburg, Maaike, Sallevelt, Suzanne C E H, Hellebrekers, Debby M E I, Jacobs, Ed H, Sadeghi-Niaraki, Farah, van Tienen, Florence H J, Smeets, Hubert J M, Gerards, Mike

“…In a Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two…”
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Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development by 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

“…[This corrects the article DOI: 10.1371/journal.pgen.1006809.]…”
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Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup by Vallbona-Garcia, Antoni, Lindsey, Patrick J, Kamps, Rick, Stassen, Alphons P M, Nguyen, Nhan, van Tienen, Florence H J, Hamers, Ilse H J, Hardij, Rianne, van Gisbergen, Marike W, Benedikter, Birke J, de Coo, Irenaeus F M, Webers, Carroll A B, Gorgels, Theo G M F, Smeets, Hubert J M

“…Primary open-angle glaucoma (POAG) is a characteristic optic neuropathy, caused by degeneration of the optic nerve-forming neurons, the retinal ganglion cells…”
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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis by 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

“…Objectives Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein…”
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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

“…Mitochondrial disorders are genetically and clinically heterogeneous, mainly affecting high energy-demanding organs due to impaired oxidative phosphorylation…”
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Long‐term follow‐up of type 1 lissencephaly: survival is related to neuroimaging abnormalities by DE WIT, MARIE‐CLAIRE Y, DE RIJK‐VAN ANDEL, JOJANNEKE, HALLEY, DICKY J, PODDIGHE, PINO J, ARTS, WILLEM FRANS M, DE COO, IRENAEUS FM, MANCINI, GRAZIA MS

“…Aim  To evaluate survival, clinical, and genetic characteristics of all patients with classic or type 1 lissencephaly born between 1972 and 1990 in the…”
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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

“…In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical…”
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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

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in…”
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