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

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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 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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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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Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice von Yadak, Rana, Boot, Max V, van Til, Niek P, Cazals-Hatem, Dominique, Finkenstedt, Armin, Bogaerts, Elly, de Coo, Irenaeus F, Bugiani, Marianna

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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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Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease von 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

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International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy von 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

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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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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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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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Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands von Stalpers, Xenia L, Verrips, Aad, Poll-The, Bwee Tien, Cobben, Jan-Maarten, Snoeck, Irina N, de Coo, Irenaeus F.M, Brooks, Alice, Bulk, Saskia, Gooskens, Rob, Fock, Annemarie, Verschuuren-Bemelmans, Corien, Sinke, Richard J, de Visser, Marianne, Lemmink, Henny H

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