Search Results - "Coo, Irenaeus"

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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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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Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis by Smeets, Hubert J.M., Sallevelt, Suzanne C.E.H., Dreesen, Jos C.F.M., de Die-Smulders, Christine E.M., de Coo, Irenaeus F.M.

“…Mitochondrial disorders are among the most common inborn errors of metabolism; at least 15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de…”
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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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Consensus recommendations on Epilepsy in Phelan-McDermid syndrome by de Coo, Irenaeus F.M., Jesse, Sarah, Le, Thuy-Linh, Sala, Carlo, Bourgeron, Thomas

“…Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and…”
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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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Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease by Lehtonen, Jenni M., Auranen, Mari, Darin, Niklas, Sofou, Kalliopi, Bindoff, Laurence, Hikmat, Omar, Uusimaa, Johanna, Vieira, Päivi, Tulinius, Már, Lönnqvist, Tuula, Coo, Irenaeus F., Suomalainen, Anu, Isohanni, Pirjo

“…The aim of this study was to compare the value of serum biomarkers, fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), with…”
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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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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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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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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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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans by Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E, Hofstra, Robert, de Coo, Irenaeus Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

“…Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic…”
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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

“…Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and…”
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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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A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia by Corbett, Mark A., Schwake, Michael, Bahlo, Melanie, Dibbens, Leanne M., Lin, Meng, Gandolfo, Luke C., Vears, Danya F., O'Sullivan, John D., Robertson, Thomas, Bayly, Marta A., Gardner, Alison E., Vlaar, Annemarie M., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M.A., Lehesjoki, Anna-Elina, Gecz, Jozef, Berkovic, Samuel F.

“…The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and…”
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International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy by Carelli, Valerio, Carbonelli, Michele, de Coo, Irenaeus F, Kawasaki, Aki, Klopstock, Thomas, Lagrèze, Wolf A, La Morgia, Chiara, Newman, Nancy J, Orssaud, Christophe, Pott, Jan Willem R, Sadun, Alfredo A, van Everdingen, Judith, Vignal-Clermont, Catherine, Votruba, Marcela, Yu-Wai-Man, Patrick, Barboni, Piero

“…Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and…”
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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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Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients by Vallbona-Garcia, Antoni, Hamers, Ilse H.J., van Tienen, Florence H.J., Ochoteco-Asensio, Juan, Berendschot, Tos T.J.M., de Coo, Irenaeus F.M., Benedikter, Birke J., Webers, Carroll A.B., Smeets, Hubert J.M., Gorgels, Theo G.M.F.

“…Primary open-angle glaucoma (POAG) is characterized by optic nerve degeneration and irreversible loss of retinal ganglion cells (RGCs). The pathophysiology is…”
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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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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, Verheijen, Frans W, Kremer, Andreas, van der Spek, Peter J, Heijsman, Daphne, Wagner, Eric J, Fornerod, Maarten, Mancini, Grazia M S

“…Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription…”
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