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

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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing von Theunissen, Tom E.J., MSc, Sallevelt, Suzanne C.E.H., MD, Hellebrekers, Debby M.E.I., PhD, de Koning, Bart, PhD, Hendrickx, Alexandra T.M., BASc, van den Bosch, Bianca J.C., PhD, Kamps, Rick, BASc, Schoonderwoerd, Kees, PhD, Szklarczyk, Radek, PhD, Mulder-Den Hartog, Elvira N.M., MSc, de Coo, Irenaeus F.M., MD, PhD, Smeets, Hubert J.M., PhD

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Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study von Haast, Roy A.M., Ivanov, Dimo, IJsselstein, Rutger J.T., Sallevelt, Suzanne C.E.H., Jansen, Jacobus F.A., Smeets, Hubert J.M., de Coo, Irenaeus F.M., Formisano, Elia, Uludağ, Kâmil

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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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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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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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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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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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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans von 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

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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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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal ME, Brodtkorb, Eylert, Ostergaard, Elsebet, Coo, I. F. M, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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Plasma GDF-15 concentration is not elevated in open-angle glaucoma von 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

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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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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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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial von Groeneweg, Stefan, Peeters, Robin P, Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F M, McGowan, Anne, Lyons, Greta, Aarsen, Femke K, Barca, Diana, van Beynum, Ingrid M, van der Knoop, Marieke M, Jansen, Jurgen, Manshande, Martien, Lunsing, Roelineke J, Nowak, Stan, den Uil, Corstiaan A, Zillikens, M Carola, Visser, Frank E, Vrijmoeth, Paul, de Wit, Marie Claire Y, Wolf, Nicole I, Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B, Medici, Marco, Bertini, Enrico S, Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Oliver Petit, Isabelle, Polak, Michel, Chatterjee, Krishna, Visser, Theo J, Visser, W Edward

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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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Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients von 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.

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