Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome von Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bérénice, Pasquier, Laurent, Gonzales, Marie, Pastore, Matthew, Crenshaw, Melissa L, Huet, Frédéric, Gigot, Nadège, Aral, Bernard, Callier, Patrick, Faivre, Laurence, Attié-Bitach, Tania, Thauvin-Robinet, Christel

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Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial von McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, Mercuri, Eugenio, Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe

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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations von Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine, Afenjar, Alexandra, Burglen, Lydie, Castellotti, Barbara, Cuntz, Danielle, Desguerre, Isabelle, Doummar, Diane, Estienne, Margherita, Freri, Elena, Heron, Delphine, Moutard, Marie‐Laure, Novara, Francesca, Orcesi, Simona, Saletti, Veronica, Zibordi, Federica

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The wide spectrum of tubulinopathies: what are the key features for the diagnosis? von BAHI-BUISSON, Nadia, POIRIER, Karine, LASCELLES, Karine, SOUVILLE, Isabelle, BELDJORD, Cherif, CHELLY, Jamel, FOURNIOL, Franck, SAILLOUR, Yoann, VALENCE, Stéphanie, LEBRUN, Nicolas, HULLY, Marie, BIANCO, Catherine Fallet, BODDAERT, Nathalie, ELIE, Caroline

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Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study von Lindan, Camilla E, Mankad, Kshitij, Ram, Dipak, Kociolek, Larry K, Silvera, V Michelle, Boddaert, Nathalie, Stivaros, Stavros Michael, Palasis, Susan, Akhtar, Sameen, Alden, Douglas, Amonkar, Suraj, Aouad, Pascale, Aubart, Mélodie, Bacalla, Jose Alejandro, Barbosa, Alcino A, Basmaci, Romain, Berteloot, Laureline, Blauwblomme, Thomas, Brun, Gilles, Carney, Olivia, Chareyre, Judith, Chéron, Gérard, Coimbra, Pablo Picasso De Araujo, Dangouloff-Ros, Volodia, D'Arco, Felice, Dineen, Rob, De-Pontual, Loic, Desguerre, Isabelle, Elfallal, Wissam, Evans, D. Gareth, Ferraciolli, Suely Fazio, Girard, Nadine, Gonçalves, Fabrício Guimarães, Gonzalez, Ivan, Grant, P. Ellen, Grévent, David, Guimaraes, Carolina Valduga de Alencastro, Hassell, Jane, Hirata, Fabiana C.C., Kamaly-Asl, Ian, Jacob, Jeffrey, Jackson, Kandise, Jones, Blaise V., Joseph, Robin, Jung, Ah Young, Kashgari, Amna, Kilday, John-Paul, Kirsch, Alyssa, Kossorotoff, Manoelle, Krishnan, Anant, Kulkarni, Shilpa, Leruez-Vill, Marianne, Lesage, Fabrice, Levy, Raphaël, Li, Yi, Lima, Carol Cavalcante de Vasconcelos, Lingappa, Lokesh, Löbel, Ulrike, Lopez-Alberola, Roberto, Lucato, Leandro Tavares, Moreira, Daniela Duarte, Murnick, Jonathan G., Nahmani, Sarah, Pagariya, Shubra, Pavaine, Julija, Philbrook, Bryan, Piovesan, Ana Cláudia, Poisson, Kelsey E., Reddy, Nihaal, Riley, Phil, Romsauerova, Andrea, Roux, Charlies-Joris, Rugilo, Carlos, Saigal, Gaurav, Salvador, Gabriel Lucca de Oliveira, Seidenwurm, David, Sermet-Gaudelus, Isabelle, Sidpra, Jai, Sudhakar, Sniya Valsa, Toronchik, María Sol, Vézina, Gilbert

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Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

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264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021 von Detering, Nora Tula, Zambon, Alberto, Hensel, Niko, Kothary, Rashmi, Swoboda, Kathryn, Gillingwater, Thomas H., Baranello, Giovanni, Parson, Simon, Scoto, Mariascristina, Bowerman, Melissa, Vissing, John, Wirth, Brunhilde, Claus, Peter, Kirschner, Janbernd, Bertini, Enrico, Corti, Stefania, Maggi, Lorenzo, Pol, Ludo van der, Groen, Ewout, Sumner, Charlotte, Tizzano, Eduardo, Roy, Susana Quijano, Desguerre, Isabelle, Nuijs, Alexander Van, Lemus, Mencia De, Smit, Rivka, Schroth, Mary, Tichler, Ben, Gorni, Ksenija, Chand, Deepa

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Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome von Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo

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New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum von BAHI-BUISSON, Nadia, SOUVILLE, Isabelle, LOUIS LEGER, Pierre, ELIE, Caroline, BODDAERT, Nathalie, BELDJORD, Cherif, CHELLY, Jamel, FRANCIS, Fiona, EUROPEAN CONSORTIUM, Sbh-Lis, FOURNIOL, Franck J, TOUSSAINT, Aurelie, MOORES, Carolyn A, HOUDUSSE, Anne, YVES LEMAITRE, Jean, POIRIER, Karine, KHALAF-NAZZAL, Reham, HULLY, Marie

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Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study von Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco

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The research gap in chronic paediatric pain: A systematic review of randomised controlled trials von Boulkedid, R., Abdou, A.Y., Desselas, E., Monégat, M., Leeuw, T.G., Avez‐Couturier, J., Dugue, S., Mareau, C., Charron, B., Alberti, C., Kaguelidou, F., Bali, Donjeta, Hoxha(Qosja), Alketa, Kola, Ermira, Talvik, Inga, Andrieu‐Galien, Juliette, Annequin, Daniel, Blanchet, Romy, Desguerre, Isabelle, Fournier‐Charrière, Elisabeth, Tourniaire, Barbara, Wood, Chantal, Neubert, Antje, Trollmann, Regina, Wimmer, Stefan, Garini, Eleana, Mammi, Panagoula, Allegretti, Marcello, Bellagamba, Ornella, Benini, Franca, Bonifazi, Donato, Caprino, Daniela, Ceci, Adriana, Congedi, Sabrina, Craig, Francesco, Dallorso, Sandro, Divisic, Antuan, Felisi, Mariagrazia, Gentile, Marco, De Giacomo, Andrea, Lundin, Rebecca, Manfredini, Luca, Mangiarini, Laura, Matera, Emilia, Margari, Lucia, Mazza, Alessandro, Pace, Virgilio, Di Pede, Chiara, Giuseppina Petruzzelli, Maria, Ruffini, Pieradelchi, Tagliavacca, Luigina, Traverso, Maria, Mensink, Maarten O, Tibboel, Dick, Wildt, Saskia N, Zanden, Tjitske, Pasqua, Oscar Della, Healy, Paul

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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care von De Antonio, Marie, Dogan, Céline, Daidj, Ferroudja, Eymard, Bruno, Puymirat, Jack, Mathieu, Jean, Gagnon, Cynthia, Katsahian, Sandrine, Hamroun, Dalil, Bassez, Guillaume

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Gabapentin as add-on to morphine for severe neuropathic or mixed pain in children from age 3 months to 18 years - evaluation of the safety, pharmacokinetics, and efficacy of a new... von de Leeuw, Thomas G, Mangiarini, Laura, Lundin, Rebecca, Kaguelidou, Florentia, van der Zanden, Tjitske, Pasqua, Oscar Della, Tibboel, Dick, Ceci, Adriana, de Wildt, Saskia N

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Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy von Shieh, Perry B., Elfring, Gary, Trifillis, Panayiota, Santos, Claudio, Peltz, Stuart W., Parsons, Julie A., Apkon, Susan, Darras, Basil T., Campbell, Craig, McDonald, Craig M.

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Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study von Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco

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Non-inferiority double-blind randomised controlled trial comparing gabapentin versus tramadol for the treatment of chronic neuropathic or mixed pain in children and adolescents: th... von Kaguelidou, Florentia, Le Roux, Enora, Mangiarini, Laura, Lundin, Rebecca, de Leeuw, Thomas G, Della Pasqua, Oscar, Felisi, Mariagrazia, Bonifazi, Donato, Tibboel, Dick, Ceci, Adriana, de Wildt, Saskia N, Alberti, Corinne

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