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 no Front Cell Neurosci (2017)

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

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

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 em 2010

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

Por 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
Publicado no Eur J Hum Genet (2016)

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 em 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 no J Med Genet (2017)

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

Por 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.
Publicado em 2012

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 no Front Mol Neurosci (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 no Front Neurol (2016)

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

Por 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.
Publicado em 2010

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

Por 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.
Publicado em 2011

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 no PLoS Genet (2017)

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Por Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Publicado em 2009

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 no PLoS Genet (2017)

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Por 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.
Publicado em 2013

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Por Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio
Publicado no Brain (2015)