PABPN1 gene therapy for oculopharyngeal muscular dystrophy von Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. Polay, Mamchaoui, K., Blumen, S. C., St Guily, J. Lacau, Mouly, V., Graham, M., Butler-Browne, G., Suhy, D. A., Trollet, C., Dickson, G.

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Myoblots: dystrophin quantification by in‐cell western assay for a streamlined development of Duchenne muscular dystrophy (DMD) treatments von Ruiz‐Del‐Yerro, E., Garcia‐Jimenez, I., Mamchaoui, K., Arechavala‐Gomeza, V.

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G.P.93 von Maniangou, B, Cadot, B, Dorna, M, Holtzman, I, Pontoriero, M, Jollet, A, Mamchaoui, K, Lorain, S, Voit, T, Pietri-Rouxel, F, Benkhelifa-Ziyyat, S

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O01 Autologous cell therapy in oculopharyngeal muscular dystrophy (OPMD) von Périé, S, Trollet, C, Mouly, V, Larghero, J, Mamchaoui, K, Bouazza, B, Toy-Miou, M, Marolleau, J.P, Eymard, B, Laforêt, P, Chapon, F, Butler-Browne, G, Guily, J. Lacau St

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178P Spinal muscular atrophy type II skeletal muscle treated with Nusinersen and Risdiplam shows SMN restoration but mitochondrial deficiency von Grandi, F., Astord, S., Pezet, S., Gidaja, E., Mazzucchi, S., Chapart, M., Vasseur, S., Mamchaoui, K., Smeriglio, P.

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P.16.12 OPMD from the myoblast’s and fibroblast’s point of view von Gidaro, T, Negroni, E, Klein, P, Oloko, M, Lesnik, M, Bigot, A, Mamchaoui, K, Périé, S, Guily, J.L. St, Butler-Browne, G, Mouly, V, Trollet, C

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D.P.25 Mutation in lamin A/C gene causes mechanotransduction defects in human myoblasts von Bertrand, A, Ehret, C, Mamchaoui, K, Ziaei, S, Mayer, M, Desguerre, I, Bonne, G, Coirault, C

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P176 Immortalized human muscle cells: easy-to-use models to study neuromuscular diseases von Butler-Browne, G., Ohana, J., Mamchaoui, K., Bensalah, M., Negroni, E., Trollet, C., Bigot, A., Mouly, V.

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O.12 Studies in antisense oligonucleotide induced exon skipping of single or double exon duplications von Taylor, L, Zhao, L, Kaminoh, Y, Mamchaoui, K, Mouly, V, Butler-Browne, G, Vulin, A, Wilton, S, Flanigan, K.M

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Impact on oxidative phosphorylation of immortalization with the telomerase gene von Auré, K, Mamchaoui, K, Frachon, P, Butler-Browne, G.S, Lombès, A, Mouly, V

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P422 A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation von Benarroch, L., Madsen-Østerbye, J., Abdelhalim, M., Mamchaoui, K., Ohana, J., Bigot, A., Mouly, V., Bertrand, A., Collas, P., Bonne, G.

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P2.45 Proteomic studies of muscle progenitor cells in affected and non-affected oculopharyngeal muscular dystrophy muscles von Gidaro, T, Mamchaoui, K, Bouazza, B, Perié, S, Svinartchouk, F, Blumen, S, Guily, J.J.S, Butler-Browne, G, Mouly, V, Trollet, C

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FUBP1: a new protagonist in splicing regulation of the DMD gene von Miro, Julie, Laaref, Abdelhamid Mahdi, Rofidal, Valérie, Lagrafeuille, Rosyne, Hem, Sonia, Thorel, Delphine, Méchin, Déborah, Mamchaoui, Kamel, Mouly, Vincent, Claustres, Mireille, Tuffery-Giraud, Sylvie

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Human circulating AC133+ stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle von Torrente, Yvan, Belicchi, Marzia, Sampaolesi, Maurilio, Pisati, Federica, Meregalli, Mirella, D’Antona, Giuseppe, Tonlorenzi, Rossana, Porretti, Laura, Gavina, Manuela, Mamchaoui, Kamel, Pellegrino, Maria Antonietta, Furling, Denis, Mouly, Vincent, Butler-Browne, Gillian S., Bottinelli, Roberto, Cossu, Giulio, Bresolin, Nereo

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P.311BIO101 demonstrates combined beneficial effects on skeletal muscle and respiratory functions in a mouse model of Duchenne muscular dystrophy von Dilda, P., Latil, M., Didry-Barca, B., On, S., Serova, M., Mamchaoui, K., Veillet, S., Lafont, R.

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NEW GENES AND DISEASES: EP.301 The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions von Moulay, G., Nelson, I., Lainé, J., Cohen, E., Lemaître, M., Mamchaoui, K., Julien, L., Brochier, G., Beuvin, M., Yaou, R. Ben, Malfatti, E., Fardeau, C., Fardeau, M., Romero, N., Bitoun, M., Stojkovic, T., Bonne, G., Vassilopoulos, S.

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NEW GENES AND DISEASES von Moulay, G., Nelson, I., Lainé, J., Cohen, E., Lemaître, M., Mamchaoui, K., Julien, L., Brochier, G., Beuvin, M., Yaou, R. Ben, Malfatti, E., Fardeau, C., Fardeau, M., Romero, N., Bitoun, M., Stojkovic, T., Bonne, G., Vassilopoulos, S.

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T.P.1.09 Oculopharyngeal muscular dystrophy (OPMD): Physiopathological mechanisms and gene therapy approaches von Trollet, C, Bales, O, Anvar, Y, Foster, K, Mamchaoui, K, t Hoen, P.A, Raz, V, van der Maarel, S, Antoniou, M, Mouly, V, Butler-Browne, G, Dickson, G

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The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy von Mouly, V., Aamiri, A., Bigot, A., Cooper, R. N., Di Donna, S., Furling, D., Gidaro, T., Jacquemin, V., Mamchaoui, K., Negroni, E., Périé, S., Renault, V., Silva-Barbosa, S. D., Butler-Browne, G. S.

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Immortalized Skin Fibroblasts Expressing Conditional MyoD as a Renewable and Reliable Source of Converted Human Muscle Cells to Assess Therapeutic Strategies for Muscular Dystrophi... von CHAOUCH, Soraya, MOULY, Vincent, FURLING, Denis, GOYENVALLE, Aurélie, VULIN, Adeline, MAMCHAOUI, Kamel, NEGRONI, Elisa, DI SANTO, James, BUTLER-BROWNE, Gillian, TORRENTE, Yvan, GARCIA, Luis

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