De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Olaso, R., Udd, B., Bonne, G., Eymard, B., Richard, I. :
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy
Neurology, 2015 ; 85 (24) : 2126-35
Publications (1181)
Chartier, A., Klein, P., Pierson, S., Barbezier, N., Gidaro, T., Casas, F., Carberry, S., Dowling, P., Maynadier, L., Bellec, M., Oloko, M., Jardel, C., Moritz, B., Dickson, G., Mouly, V., Ohlendieck, K., Butler-Browne, G., Trollet, C., Simonelig, M. :
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis PLoS Genet, 2015 ; 11 (3) : e1005092
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis PLoS Genet, 2015 ; 11 (3) : e1005092
Preisler, N., Laforet, P., Madsen, K. L., Prahm, K. P., Hedermann, G., Vissing, C. R., Galbo, H., Vissing, J. :
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III Neurology, 2015 ; 84 (17) : 1767-1771
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III Neurology, 2015 ; 84 (17) : 1767-1771
Meliani, A., Leborgne, C., Triffault, S., Jeanson-Leh, L., Veron, P., Mingozzi, F. :
Determination of anti-adeno-associated virus vector neutralizing antibody titer with an in vitro reporter system Hum Gene Ther Methods, 2015 ; 26 (2) : 45-53
Determination of anti-adeno-associated virus vector neutralizing antibody titer with an in vitro reporter system Hum Gene Ther Methods, 2015 ; 26 (2) : 45-53
Blondelle, J., Ohno, Y., Gache, V., Guyot, S., Storck, S., Blanchard-Gutton, N., Barthelemy, I., Walmsley, G., Rahier, A., Gadin, S., Maurer, M., Guillaud, L., Prola, A., Ferry, A., Aubin-Houzelstein, G., Demarquoy, J., Relaix, F., Piercy, R. J., Blot, S., Kihara, A., Tiret, L., Pilot-Storck, F. :
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth J Mol Cell Biol, 2015 ; 7 (5) : 429-40
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth J Mol Cell Biol, 2015 ; 7 (5) : 429-40
D'Alessandro, M., Hnia, K., Gache, V., Koch, C., Gavriilidis, C., Rodriguez, D., Nicot, A. S., Romero, N. B., Schwab, Y., Gomes, E., Labouesse, M., Laporte, J. :
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton Dev Cell, 2015 ; 35 (2) : 186-98
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton Dev Cell, 2015 ; 35 (2) : 186-98
Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., Nelson, I., Cobo, A. M., Arne-Bes, M. C., Uro-Coste, E., Nitschke, P., Claustres, M., Bonne, G., Levy, N., Chelly, J., Richard, I., Cossee, M. :
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Eur J Hum Genet, 2015 ; 23 (7) : 929-94
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Eur J Hum Genet, 2015 ; 23 (7) : 929-94
Han, S. O., Li, S., Brooks, E. D., Masat, E., Leborgne, C., Banugaria, S., Bird, A., Mingozzi, F., Walmann, H., Koeberl, D. :
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35
Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V. L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B., Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L. B., Sloboda, D. D., Bertini, E., Chitayat, D., Telfer, W. R., Laquerriere, A., Gregorio, C. C., Ottenheijm, C. A., Bonnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y. K., Romero, N. B., Laing, N. G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., MacArthur, D. G., North, K. N., Clarke, N. F. :
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy – Erratum J Clin Invest, 2015 ; 125 (1) : 456-7
Santos, D. B., Boussaid, G., Stojkovic, T., Orlikowski, D., Letilly, N., Behin, A., Butel, S., Lofaso, F., Prigent, H. :
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy Neuromuscul Disord, 2015 ; 25 (8) : 632-9
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy Neuromuscul Disord, 2015 ; 25 (8) : 632-9
