Developmental coordination disorder subtypes in children: An unsupervised clustering von Gras, Domitille, Ploix Maes, Emmanuelle, Doulazmi, Mohamed, Huron, Caroline, Galléa, Cécile, Boespflug Tanguy, Odile, Germanaud, David, Roze, Emmanuel

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Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing von Fraize, Justine, Fischer, Clara, Elmaleh‐Bergès, Monique, Kerdreux, Eliot, Beggiato, Anita, Ntorkou, Alexandra, Duchesnay, Edouard, Bekha, Dhaif, Boespflug‐Tanguy, Odile, Delorme, Richard, Hertz‐Pannier, Lucie, Germanaud, David

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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function von Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François‐Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie‐Christine, Oppermann, Ilena, Pérez‐Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomas Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

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Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study von De Giorgis, Valentina, Bhatia, Kailash P., Boespflug‐Tanguy, Odile, Gras, Domitille, Marina, Adela Della, Desurkar, Archana, Toledo, Manuel, Miller, Ian, Rotstein, Michael, Schneider, Susanne A., Tarquinio, Daniel C., Weber, Yvonne, Brandabur, Melanie, Mayhew, Jill, Koutsoukos, Tony, De Vivo, Darryl C.

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Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria von Ayrignac, Xavier, Carra‐Dallière, Clarisse, Codjia, Pekes, Mouzat, Kevin, Castelnovo, Giovanni, Ellie, Emmanuel, Etcharry‐Bouyx, Frédérique, Belliard, Serge, Marelli, Cecilia, Portet, Florence, Le Ber, Isabelle, Durand‐Dubief, Francoise, Mathey, Guillaume, Stankoff, Bruno, Dorboz, Imen, Drunat, Severine, Boespflug‐Tanguy, Odile, Menjot de Champfleur, Nicolas, Lumbroso, Serge, Mochel, Fanny, Labauge, Pierre

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Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome von Gerasimenko, Anna, Mignot, Cyril, Naggara, Olivier, Coulet, Florence, Ekram, Samar, Heide, Solveig, Sorato, Clarisse, Mazowiecki, Maxime, Perrin, Laurence, Colas, Chrystelle, Cusin, Veronica, Caux, Frédéric, Dardenne, Antoine, El Chehadeh, Salima, Verloes, Alain, Maurey, Hélène, Afenjar, Alexandra, Petit, Florence, Barete, Stéphane, Boespflug‐Tanguy, Odile, Bourrat, Emmanuelle, Capri, Yline, Ciorna, Viorica, Deb, Wallid, Doummar, Diane, Perrier, Alexandre, Guédon, Alexis, Houdart, Emmanuel, Isidor, Bertrand, Jacquemont, Marie‐Line, Buffet, Camille, Mercier, Sandra, Passemard, Sandrine, Riquet, Audrey, Ruaud, Lyse, Schaefer, Elise, Heron, Delphine, Bisdorff, Annouk, Benusiglio, Patrick R.

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome von Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny

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SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation von Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh‐Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflug‐Tanguy, Odile, Vincent, Marie‐Françoise, Benoist, Jean‐François, Wevers, Ron A., Schlessinger, Avner, Van Schaftingen, Emile, Nassogne, Marie‐Cécile, Schiff, Manuel

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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene von Malbos, Marlène, Wakeling, Emma, Gautier, Thierry, Boespflug-Tanguy, Odile, Busby, Louise, Taylor-Miller, Tashunka, Dudoignon, Benjamin, Bokov, Plamen, Govin, Jérôme, Grisval, Margot, Rega, Adélaïde, Mourot De Rougemont, Marie-Gabrielle, Aubriot-Lorton, Marie-Hélène, Darmency, Véronique, Bensignor, Candace, Houzel, Anne, Huet, Frédéric, Denommé-Pichon, Anne-Sophie, Delanne, Julian, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Safraou, Hana, Nambot, Sophie, Garde, Aurore, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel

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Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease von Ruiz, Montserrat, Bégou, Mélina, Launay, Nathalie, Ranea‐Robles, Pablo, Bianchi, Patrizia, López‐Erauskin, Jone, Morató, Laia, Guilera, Cristina, Petit, Bérengère, Vaurs‐Barriere, Catherine, Guéret‐Gonthier, Céline, Bonnet‐Dupeyron, Marie‐Noëlle, Fourcade, Stéphane, Auwerx, Johan, Boespflug‐Tanguy, Odile, Pujol, Aurora

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Novel variants causing megalencephalic leukodystrophy in Sudanese families von Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A A, Mohammed, Inaam N, Elseed, Maha A, Drunat, Severine, Babai, Arwa, Eltaraifee, Esraa, Elbadi, Iman, Abubaker, Rayan, Mustafa, Doaa, Yahia, Ashraf, Koko, Mahmoud, Osman, Melka, Bakhit, Yousuf, Elshafea, Azza, Alsiddig, Mohamed, Haroun, Sahwah, Lelay, Gurvan, Elsayed, Liena E O, Ahmed, Ammar E, Boespflug-Tanguy, Odile, Dorboz, Imen

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Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families von Kraoua, Ichraf, Jamoussi, Maha, Drissi, Cyrine, Kraoua, Lilia, Drunat, Séverine, Benrhouma, Hanene, Ben Younes, Thouraya, Nagi, Sonia, Abdelhak, Sonia, Boespflug Tanguy, Odile, Youssef‐Turki, Ilhem Ben, Trabelsi, Mediha, Dorboz, Imen

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Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects von Vaurs-Barrière, Catherine, Deville, Marlène, Sarret, Catherine, Giraud, Geneviève, Des Portes, Vincent, Prats-Viñas, José-Maria, De Michele, Giuseppe, Dan, Bernard, Brady, Angela F., Boespflug-Tanguy, Odile, Touraine, Renaud

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Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation von Capri, Yline, Friesema, Edith C.H., Kersseboom, Simone, Touraine, Renaud, Monnier, Aurélie, Eymard-Pierre, Eléonore, Des Portes, Vincent, De Michele, Giusseppe, Brady, Angela F., Boespflug-Tanguy, Odile, Visser, Theo J., Vaurs-Barriere, Catherine

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Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment von Mercuri, Eugenio, Baranello, Giovanni, Boespflug‐Tanguy, Odile, De Waele, Liesbeth, Goemans, Nathalie, Kirschner, Janbernd, Masson, Riccardo, Mazzone, Elena S., Pechmann, Astrid, Pera, Maria Carmela, Vuillerot, Carole, Bader‐Weder, Silvia, Gerber, Marianne, Gorni, Ksenija, Hoffart, Janine, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Yeung, Wai Yin, Servais, Laurent

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Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia von Kraoua, Ichraf, Karkar, Adnane, Drissi, Cyrine, Benrhouma, Hanene, Klaa, Hedia, Samaan, Simon, Renaldo, Florence, Elmaleh, Monique, Ben Hamouda, Mohamed, Abdelhak, Sonia, Boespflug‐Tanguy, Odile, Ben Youssef‐Turki, Ilfghem, Dorboz, Imen

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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series von Lerat, Justine, Magdelaine, Corinne, Roux, Anne‐Françoise, Darnaud, Léa, Beauvais‐Dzugan, Hélène, Naud, Steven, Richard, Laurence, Derouault, Paco, Ghorab, Karima, Magy, Laurent, Vallat, Jean‐Michel, Cintas, Pascal, Bieth, Eric, Arne‐Bes, Marie‐Christine, Goizet, Cyril, Espil‐Taris, Caroline, Journel, Hubert, Toutain, Annick, Urtizberea, Jon Andoni, Boespflug‐Tanguy, Odile, Laffargue, Fanny, Corcia, Philippe, Pasquier, Laurent, Fradin, Mélanie, Napuri, Sylva, Ciron, Jonathan, Boulesteix, Jean‐Marc, Sturtz, Franck, Lia, Anne‐Sophie

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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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Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease von Combes, Patricia, Kammoun, Nadège, Monnier, Aurélie, Gonthier-Guéret, Céline, Giraud, Geneviève, Bertini, Enrico, Chahnez, Triki, Fakhfakh, Faiza, Boespflug-Tanguy, Odile, Vaurs-Barrière, Catherine

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Combining neuroanatomical features to support diagnosis of fetal alcohol spectrum disorders von Fraize, Justine, Garzón, Pauline, Ntorkou, Alexandra, Kerdreux, Eliot, Boespflug‐Tanguy, Odile, Beggiato, Anita, Delorme, Richard, Hertz‐Pannier, Lucie, Elmaleh‐Berges, Monique, Germanaud, David

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