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RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design by Finkel, RS, Day, JW, De Vivo, DC, Kirschner, J, Mercuri, E, Muntoni, F, Shieh, PB, Tizzano, E, Desguerre, I, Quijano-Roy, S, Saito, K, Droege, M, Dabbous, O, Khan, F, Renault, L, Anderson, FA, Servais, L
Published 2020Journal article -
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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). by Poirier, K, Keays, D, Francis, F, Saillour, Y, Bahi, N, Manouvrier, S, Fallet-Bianco, C, Pasquier, L, Toutain, A, Tuy, F, Bienvenu, T, Joriot, S, Odent, S, Ville, D, Desguerre, I, Goldenberg, A, Moutard, M, Fryns, J, van Esch, H, Harvey, R, Siebold, C, Flint, J, Beldjord, C, Chelly, J
Published 2007Journal article -
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Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea by Bauché, S, O'Regan, S, Azuma, Y, Laffargue, F, McMacken, G, Sternberg, D, Brochier, G, Buon, C, Bouzidi, N, Topf, A, Lacène, E, Remerand, G, Beaufrere, A-M, Pebrel-Richard, C, Thevenon, J, El Chehadeh-Djebbar, S, Faivre, L, Duffourd, Y, Ricci, F, Mongini, T, Fiorillo, C, Astrea, G, Burloiu, CM, Butoianu, N, Sandu, C, Servais, L, Bonne, G, Nelson, I, Desguerre, I, Nougues, M-C, Bœuf, B, Romero, N, Laporte, J, Boland, A, Lechner, D, Deleuze, J-F, Fontaine, B, Strochlic, L, Lochmuller, H, Eymard, B, Mayer, M, Nicole, S
Published 2016Journal article