COL4A2 mutation associated with familial porencephaly and small-vessel disease by VERBEEK, Elly, MEUWISSEN, Marije E. C, HALLEY, Dicky J, DE COO, René I. F, DEN HOLLANDER, Jan C, OEGEMA, Renske, GOULD, Douglas B, MANCINI, Grazia M. S, VERHEIJEN, Frans W, GOVAERT, Paul P, LICHT, Daniel J, KUO, Debbie S, POULTON, Cathryn J, SCHOT, Rachel, LEQUIN, Maarten H, DUDINK, Jeroen

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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

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Increased use of illicit drugs in a Dutch cluster headache population by de Coo, Ilse F, Naber, Willemijn C, Wilbrink, Leopoldine A, Haan, Joost, Ferrari, Michel D, Fronczek, Rolf

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Evaluation of the new ICHD-III beta cluster headache criteria by de Coo, IF, Wilbrink, LA, Haan, J, Ferrari, MD, Terwindt, GM

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Smad1/5/8 are myogenic regulators of murine and human mesoangioblasts by Costamagna, Domiziana, Quattrocelli, Mattia, van Tienen, Florence, Umans, Lieve, de Coo, Irineus F M, Zwijsen, An, Huylebroeck, Danny, Sampaolesi, Maurilio

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How General Practitioners Treat Migraine in Children - Evaluation of a Headache Guideline by de Coo, Ilse F., de Jong, Gosse, Zielman, Ronald, van den Berg, Jan S.P.

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Natural History of Vanishing White Matter by Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Aldhalaan, H., Alves, D., Appleton, R., Arslan, E.A., Baethmann, M., Banwell, B., Barbot, C., Bertini, E., Bley, A., Bollen, L., Boltshauser, E., Bower, S., Bravo Oro, A., Campos, M.M., Carr, L., Chan, A.K.J., Clarke, A., Crow, Y., Csányi, B., Del Rossario Aldao, M., D'Hooghe, M., El Helou, J, Fallon, P., Ferlini, A., Ferro, J.M., Fluss, J., Fontenelle, L., Garone, C., Geldhoff, M., Glamuzina, E., Góes, F., Gonzalez, V., Guarda, C., Gulati, S., Güler, S., Horvath, R., Jagadeesh, S., Kaczorowska, M., Kankirawatana, P., Karall, D., King, M.D., Krägeloh‐Mann, I., Lehman, A., Liptai, Z., Livingston, J.H., Maes, M., Majumdar, A., Mandel, H., McEntagart, M., Morton, R., Moura de Souza, C.F., Mundy, H., Naess, K., Naismith, K., Newton, R.W., Noetzel, M.J., O'Brien, B, Okálová, K., Østergaard, J.R., Pato Pato, A., Pera, J., Perlman, S., Philippart, M., Régal, L., Rice, C.M., Rossignol, E., Rubin, J.P., Salvi, F., Sampaio, H., Sánchez Herrero, J., Santos, E., Sessa, M., Sharma, S., Shearn, J., Shoffner, J., Skranes, J.S., Sparagana, S.P., Storey, E., Sztriha, L., Tatli, B., Tekturk, P., Tennison, M., Tirupathi, S., Toledo Bravo de Laguna, L., Tuna, M.A., Valverde, A., van Coster, R., Vasconcelos, M., Vogt, H., von Kleist‐Retzow, J.C., Wong, S.S.N., Yavuz, H.

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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy by VAN BERGE, Laura, HAMILTON, Eline M, DE JONG, Brigit A, MALAK AL GHAMDI, VAN WIERINGEN, Wessel N, TANNOUS, Bakhos A, HULLEMAN, Esther, WÜRDINGER, Thomas, VAN BERKEL, Carola G. M, POLDER, Emiel, ABBINK, Truus E. M, STRUYS, Eduard A, LINNANKIVI, Tarja, SCHEPER, Gert C, VAN DER KNAAP, Marjo S, UZIEL, Graziella, STEENWEG, Marjan E, ISOHANNI, Pirjo, WOLF, Nicole I, KRÄGELOH-MANN, Ingeborg, BRAUTASET, Nils J, ANDREWS, P. Ian

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A prospective open label 2-8 year extension of the randomised controlled ICON trial on the long-term efficacy and safety of occipital nerve stimulation in medically intractable chr... by Brandt, Roemer B, Wilbrink, Leopoldine A, de Coo, Ilse F, Haan, Joost, Mulleners, Wim M, Huygen, Frank J P M, van Zwet, Erik W, Ferrari, Michel D, Fronczek, Rolf

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Ataxia rating scales are age‐dependent in healthy children by Brandsma, Rick, Spits, Anne H, Kuiper, Marieke J, Lunsing, Roelinka J, Burger, Huibert, Kremer, Hubertus P, Sival, Deborah A, Barisic, N., Baxter, P., Brankovic‐Sreckovic, V., Calabrò, G.E., Catsman‐Berrevoets, C., Coo, IFM, Craiu, D., Dan, B., Gburek‐Augustat, J., Kammoun‐Feki, F., Kennedy, C., Mancini, F., Mirabelli‐Badenier, M., Nemeth, A., Newton, R., Poll‐The, B.T., Steinlin, M., Synofzik, M., Topcu, M., Triki, C., Valente, E.M.

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Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands by Smeets, Hubert J.M., Verbrugge, Bram, Springuel, Pierre, Voermans, Nicol C., Cossu, Giulio, de Coo, René, Diamantidis, Christos, Dragendorf, Eric, Durbeej-Hjalt, Madeleine, Dziewczapolski, Gustavo, Erasmus, Corrie, Foley, Reghan, Girgenrath, Sweta, Herrero, Leonardo Zingler, Kemaladewi, Dwi, Klein, Andrea, Lemmens, Marie-Julie, van de Loo, Lotte, Previtali, Stefano, Ruegg, Markus, Said, Adnan Abdulaziz, Sampaolesi, Maurilio, Sarkozy, Anna, Sawnani, Hemant, Stelwagen, Dirk Jan, Stelwagen, Heleen, Topaloglu, Haluk, van Tienen, Florence, Yurchenco, Peter, van Zutphen, Teun

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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... by Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon F., Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, Gai, Xiaowu, Bale, Sherri, Bedoyan, Jirair, Behar, Doron, Bonnen, Penelope, Brooks, Lisa, Calabrese, Claudia, Calvo, Sarah, Chinnery, Patrick, Christodoulou, John, Church, Deanna, Clima, Rosanna, Cohen, Bruce H., Cotton, Richard G., de Coo, I.F.M., Derbenevoa, Olga, den Dunnen, Johan T., Dimmock, David, Enns, Gregory, Gasparre, Giuseppe, Goldstein, Amy, Gonzalez, Iris, Gwinn, Katrina, Hahn, Sihoun, Haas, Richard H., Hakonarson, Hakon, Hirano, Michio, Kerr, Douglas, Li, Dong, Lvova, Maria, Macrae, Finley, Maglott, Donna, McCormick, Elizabeth, Mitchell, Grant, Mootha, Vamsi K., Okazaki, Yasushi, Pujol, Aurora, Parisi, Melissa, Perin, Juan Carlos, Pierce, Eric A., Procaccio, Vincent, Rahman, Shamima, Reddi, Honey, Rehm, Heidi, Riggs, Erin, Rodenburg, Richard, Rubinstein, Yaffa, Saneto, Russell, Santorsola, Mariangela, Scharfe, Curt, Sheldon, Claire, Shoubridge, Eric A., Simone, Domenico, Smeets, Bert, Smeitink, Jan A., Stanley, Christine, Suomalainen, Anu, Tarnopolsky, Mark, Thiffault, Isabelle, Thorburn, David R., Van Hove, Johan, Wolfe, Lynne, Wong, Lee-Jun

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Safety and efficacy of occipital nerve stimulation for attack prevention in medically intractable chronic cluster headache (ICON): a randomised, double-blind, multicentre, phase 3,... by Wilbrink, Leopoldine A, de Coo, Ilse F, Doesborg, Patty G G, Mulleners, Wim M, Teernstra, Onno P M, Bartels, Eveline C, Burger, Katja, Wille, Frank, van Dongen, Robert T M, Kurt, Erkan, Spincemaille, Geert H, Haan, Joost, van Zwet, Erik W, Huygen, Frank J P M, Ferrari, Michel D, Ferrari, M.D., Wilbrink, L.A., de Coo, I.F., Doesborg, P.G.G., Bartels, E.C., van Zwet, E.W., Huygen, F.J.P.M., Mulleners, W.M., van Dongen, R.T.M., Kurt, E., Teernstra, O.P.M., Koehler, P.J.J., Spincemaille, G.H., Wille, F., Burger, K., Haan, J., Couturier, E.G.M., Kallewaard, J.W., Veltink, P.H., Schoenen, J., Magis, D., Eross, L.G., Afra, J., Göbel, H., Heinze, A., Tronnier, V., Rasche, D.

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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome by van Eeghen, A.M., Stemkens, D., Fernández-Fructuoso, José Ramón, Maruani, A., Hadzsiev, K., Gaasterland, C.M.W., Klein Haneveld, M.J., Vyshka, Klea, Hugon, A., van Eeghen, A.M., Alhambra, Norma, Anderlid, Britt-Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Fernández-Fructuoso, José Ramón, Grabrucker, Andreas M., Gunnarson, Cecilia, Hadzsiev, Kinga, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., Kuiper, Els, Landlust, Annemiek M., Lapunzina, Pablo, Loth, Eva, Mansour, Sahar, Maruani, Anna, Mattina, Teresa, Matulevičienė, Aušra, Nevado, Julián, Parker, Susanne, Robert, Sandra, Sala, Carlo, San José Cáceres, Antonia, Schön, Michael, Šiaurytė, Kamilė, Stemkens, Daphne, Stiefsohn, Dominique, Swillen, Ann, Tabet, Anne C., Toro, Roberto, Turner, Alison, van Balkom, Ingrid D.C., van Buggenhout, Griet, van Eeghen, Agnies M., van Ravenswaaij-Arts, Conny M.A., van Weering, Sabrina, Verpelli, Chiara, Vignes, Stephane, Vogels, Annick, Vyshka, Klea, Walinga, Margreet, van Balkom, I.D.C.

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O20 – 1660 Leigh syndrome: a multicenter study of natural history by Sofou, K, de Coo, IF, de Angst, IB, Isohanni, P, Pihko, H, Östergaard, E, Naess, K, De Meirleir, L, Tzoulis, C, Uusimaa, J, Mankinen, K, Bindoff, LA, Tulinius, M, Darin, N

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O22 – 1585 New insights into the spectrum of phenotypes and genotypes in Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) by Hamilton, EM, van Berge, L, Steenweg, ME, Linnankivi, T, Uziel, G, Krägeloh-Mann, I, Brautaset, NJ, Andrews, I, de Coo, IF, van Berkel, CG, Polder, E, Scheper, GC

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Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON by Spruijt, L., Hoogendijk, J.E., Hendrickx, A.T.M., de Coo, I.F., Doevendans, P.A., de Jong, P.T.V.M., Spliet, W.G.M., Kroes, H., Smeets, H.J.

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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

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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 by 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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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis by Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H

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