New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p von NABBOUT, R, BAULAC, S, DESGUERRE, I, BAHI-BUISSON, N, CHIRON, C, RUBERG, M, DULAC, O, LEGUERN, E

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Régime cétogène dans les epilepsies rebelles: À propos de 32 patients von Villeneuve, N, Pinton, F, Heron, B, Bednarek, N, Billard, C, Chiron, C, Cieuta, C, Desguerre, L, Kaminska, A, Motte, J, Netter, JC, Ponsot, G, Dulac, O

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Detection of interferon alpha protein reveals differential levels and cellular sources in disease von Rodero, Mathieu P, Decalf, Jérémie, Bondet, Vincent, Hunt, David, Rice, Gillian I, Werneke, Scott, McGlasson, Sarah L, Alyanakian, Marie-Alexandra, Bader-Meunier, Brigitte, Barnerias, Christine, Bellon, Nathalia, Belot, Alexandre, Bodemer, Christine, Briggs, Tracy A, Desguerre, Isabelle, Frémond, Marie-Louise, Hully, Marie, van den Maagdenberg, Arn M J M, Melki, Isabelle, Meyts, Isabelle, Musset, Lucile, Pelzer, Nadine, Quartier, Pierre, Terwindt, Gisela M, Wardlaw, Joanna, Wiseman, Stewart, Rieux-Laucat, Frédéric, Rose, Yoann, Neven, Bénédicte, Hertel, Christina, Hayday, Adrian, Albert, Matthew L, Rozenberg, Flore, Crow, Yanick J, Duffy, Darragh

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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network von Solé, G., Salort-Campana, E., Pereon, Y., Stojkovic, T., Wahbi, K., Cintas, P., Adams, D., Laforet, P., Tiffreau, V., Desguerre, I., Pisella, L.I., Molon, A., Attarian, S.

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Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a pros... von Barrois, R, Tervil, B, Cacioppo, M, Barnerias, C, Deladrière, E, Leloup-Germa, V, Hervé, A, Oudre, L, Ricard, D, Vidal, P P, Vayatis, N, Roy, S Quijano, Brochard, S, Gitiaux, C, Desguerre, I

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Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis von Frémond, M.-L., Pérot, P., Muth, E., Cros, G., Dumarest, M., Mahlaoui, N., Seilhean, D., Desguerre, I., Hébert, C., Corre-Catelin, N., Neven, B., Lecuit, M., Blanche, S., Picard, C., Eloit, M.

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene von Chemin, Jean, Siquier-Pernet, Karine, Nicouleau, Michaël, Barcia, Giulia, Ahmad, Ali, Medina-Cano, Daniel, Hanein, Sylvain, Altin, Nami, Hubert, Laurence, Bole-Feysot, Christine, Fourage, Cécile, Nitschké, Patrick, Thevenon, Julien, Rio, Marlène, Blanc, Pierre, vidal, Céline, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Lyonnet, Stanislas, Boddaert, Nathalie, Fassi, Emily, Shinawi, Marwan, Zimmerman, Holly, Amiel, Jeanne, Faivre, Laurence, Colleaux, Laurence, Lory, Philippe, Cantagrel, Vincent

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Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results von Millischer, A-E, Grevent, D, Sonigo, P, Bahi-Buisson, N, Desguerre, I, Mahallati, H, Bault, J-P, Quibel, T, Couderc, S, Moutard, M-L, Julien, E, Dangouloff, V, Bessieres, B, Malan, V, Attie, T, Salomon, L-J, Boddaert, N

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Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim... von Mercuri, Eugenio, Osorio, Andrés Nascimento, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria Bernadete Dutra, Morgenroth, Lauren P., Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik K., McDonald, Craig M.

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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study von Mercuri, Eugenio, Muntoni, Francesco, Osorio, Andrés Nascimento, Tulinius, Már, Buccella, Filippo, Morgenroth, Lauren P, Gordish-Dressman, Heather, Jiang, Joel, Trifillis, Panayiota, Zhu, Jin, Kristensen, Allan, Santos, Claudio L, Henricson, Erik K, McDonald, Craig M, Desguerre, Isabelle

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New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN von HOGARTH, Penelope, GREGORY, Allison, FOULDS, Nicola C, HAMMANS, Simon R, DESGUERRE, Isabelle, RODRIGUEZ, Diana, WILSON, Callum, DIEDRICH, Andrea, GREEN, Sarah, TRAN, Huong, REESE, Lindsay, WOLTJER, Randall L, KRUER, Michael C, HAYFLICK, Susan J, SANFORD, Lynn, WAGONER, Wendy, NATOWICZ, Marvin R, EGEL, Robert T, SUBRAMONY, S. H, GOLDMAN, Jennifer G, BERRY-KRAVIS, Elizabeth

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173P A multidisciplinary approach to address the challenges posed by new phenotypes of symptomatic SMA patients treated with innovative therapies von Gaume, M., Viallard, L., Vialle, R., Desguerre, I., de Lattre, C., Cunin, V., Vuillerot, C.

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Delineation of the motor disorder of Lesch–Nyhan disease von Jinnah, H. A., Visser, Jasper E., Harris, James C., Verdu, Alfonso, Larovere, Laura, Ceballos-Picot, Irene, Gonzalez-Alegre, Pedro, Neychev, Vladimir, Torres, Rosa J., Dulac, Olivier, Desguerre, Isabelle, Schretlen, David J., Robey, Kenneth L., Barabas, Gabor, Bloem, Bastiaan R., Nyhan, William, De Kremer, Raquel, Eddey, Gary E., Puig, Juan G., Reich, Stephen G.

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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling von Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno J V, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O'Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J

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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene von Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., Eymard, B., Duboc, D., Penisson-Besnier, I., Cuisset, J. M., Ferrer, X., Desguerre, I., Lacombe, D., Bushby, K., Pollitt, C., Toniolo, D., Fardeau, M., Schwartz, K., Muntoni, F.

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature von Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, De Laet, Corinne, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O'Connell, Mary A, Lovell, Simon C, Crow, Yanick J

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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) von des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome von Merlini, Luciano, Moghadaszadeh, Behzad, Chaigne, Denys, Brockington, Martin, Topaloglu, Haluk, Estournet, Brigitte, Jaillard, Céline, Romero, Norma, Desguerre, Isabelle, Muntoni, Francesco, Roy, Susana Quijano, Guicheney, Pascale, Petit, Nathalie

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Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues von Blanche, Stéphane, Tardieu, Marc, Rustin, Pierre, Slama, Abdelhamid, Barret, Béatrice, Firtion, Ghislaine, Ciraru-Vigneron, Nicole, Lacroix, Catherine, Rouzioux, Christine, Mandelbrot, Laurent, Desguerre, Isabelle, Rötig, Agnès, Mayaux, Marie-Jeanne, Delfraissy, Jean-Francois

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 von Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.

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