Plasma GDF-15 concentration is not elevated in open-angle glaucoma von Hubens, Wouter H. G., Kievit, Marielle T., Berendschot, Tos T. J. M., de Coo, Irenaeus F. M., Smeets, Hubert J. M., Webers, Carroll A. B., Gorgels, Theo G. M. F.

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

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene von 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

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

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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study von Bjorkman, K, Vissing, J, Ostergaard, E, Bindoff, LA, de Coo, IFM, Engvall, M, Hikmat, O, Isohanni, P, Kollberg, G, Lindberg, C, Majamaa, K, Naess, K, Uusimaa, J, Tulinius, M, Darin, N

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

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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency von 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., Jacobs, Ed H., Sadeghi-Niaraki, Farah, van Tienen, Florence H. J., Smeets, Hubert J. M., Gerards, Mike

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

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Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options von Yadak, Rana, Sillevis Smitt, Peter, van Gisbergen, Marike W, van Til, Niek P, de Coo, Irenaeus F M

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

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Combined cardiological and neurological abnormalities due to filamin A gene mutation von 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

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Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup von 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

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Consensus recommendations on Epilepsy in Phelan-McDermid syndrome von de Coo, Irenaeus F.M., Jesse, Sarah, Le, Thuy-Linh, Sala, Carlo, Bourgeron, Thomas

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Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis von 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.

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Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development von 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

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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects von 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

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

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Human mutations in integrator complex subunits link transcriptome integrity to brain development von 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

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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis von 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

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

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