Sacconi, S., Wahbi, K., Theodore, G., Garcia, J., Salviati, L., Bouhour, F., Vial, C., Duboc, D., Laforet, P., Desnuelle, C. :
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease
Neuromuscul Disord, 2014 ; 24 (7) : 648-650
Publications (1184)
Bachinski, L. L., Baggerly, K. A., Neubauer, V. L., Nixon, T. J., Raheem, O., Sirito, M., Unruh, A. K., Zhang, J., Nagarajan, L., Timchenko, L. T., Bassez, G., Eymard, B., Gamez, J., Ashizawa, T., Mendell, J. R., Udd, B., Krahe, R. :
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies Neuromuscul Disord, 2014 ; 24 (3) : 227-40
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies Neuromuscul Disord, 2014 ; 24 (3) : 227-40
Bohm, J., Biancalana, V., Malfatti, E., Dondaine, N., Koch, C., Vasli, N., Kress, W., Strittmatter, M., Taratuto, A. L., Gonorazky, H., Laforet, P., Maisonobe, T., Olive, M., Gonzalez-Mera, L., Fardeau, M., Carriere, N., Clavelou, P., Eymard, B., Bitoun, M., Rendu, J., Faure, J., Weis, J., Mandel, J. L., Romero, N. B., Laporte, J. :
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations Brain, 2014 ; 137 (Pt 12) : 3160-70
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations Brain, 2014 ; 137 (Pt 12) : 3160-70
Ferreboeuf, M., Mariot, V., Furling, D., Butler-Browne, G., Mouly, V., Dumonceaux, J. :
Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases Hum Mol Genet, 2014 ; 23 (15) : 4125-4133
Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases Hum Mol Genet, 2014 ; 23 (15) : 4125-4133
Mearini, G, Stimpel, D, Geertz, B, Weinberger, F, Krämer, E, Schlossarek, S, Mourot-Filiatre, J, Stöhr, A, Dutsch, A, Wijnker, P J M, Braren, I, Katus, H A, Müller, O J, Voit, T, Eschenhagen, T, Carrier, L. :
Mybpc3 gene therapy for neonatal cardiomyopathy enableslongterm disease prevention in mice Nat Commun, 2014 ; 5 : 5515
Mybpc3 gene therapy for neonatal cardiomyopathy enableslongterm disease prevention in mice Nat Commun, 2014 ; 5 : 5515
Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M. E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., Jaeken, J., Rymen, D., Stojkovic, T., Laforet, P., Petit, F., Aumaitre, O., Czarnowska, E., Piraud, M., Podskarbi, T., Stanley, C. A., Matalon, R., Burda, P., Seyyedi, S., Debus, V., Socha, P., Sykut-Cegielska, J., van Spronsen, F., de Meirleir, L., Vajro, P., DeClue, T., Ficicioglu, C., Wada, Y., Wevers, R. A., Vanderschaeghe, D., Callewaert, N., Fingerhut, R., van Schaftingen, E., Freeze, H. H., Morava, E., Lefeber, D. J., Marquardt, T. :
Multiple phenotypes in phosphoglucomutase 1 deficiency N Engl J Med, 2014 ; 370 (6) : 533-42
Multiple phenotypes in phosphoglucomutase 1 deficiency N Engl J Med, 2014 ; 370 (6) : 533-42
Aouizerate, J., De Antonio, M., Bassez, G., Gherardi, R. K., Berenbaum, F., Guillevin, L., Berezne, A., Valeyre, D., Maisonobe, T., Dubourg, O., Cosnes, A., Benveniste, O., Authier, F. J. :
Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy Acta Neuropathol Commun, 2014 ; 2 : 154
Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy Acta Neuropathol Commun, 2014 ; 2 : 154
Chatzifrangkeskou, M., Bonne, G., Muchir, A. :
Nuclear envelope and striated muscle diseases Curr Opin Cell Biol, 2014 ; 32C : 1-6
Nuclear envelope and striated muscle diseases Curr Opin Cell Biol, 2014 ; 32C : 1-6
Gradolatto, A., Nazzal, D., Truffault, F., Bismuth, J., Fadel, E., Foti, M., Berrih-Aknin, S. :
Both Treg cells and Tconv cells are defective in the Myasthenia gravis thymus: Roles of IL-17 and TNF-alpha J Autoimmun, 2014 ; 52 : 53-63
Both Treg cells and Tconv cells are defective in the Myasthenia gravis thymus: Roles of IL-17 and TNF-alpha J Autoimmun, 2014 ; 52 : 53-63
Possidonio, A. C., Soares, C. P., Portilho, D. M., Midlej, V., Benchimol, M., Butler-Browne, G., Costa, M. L., Mermelstein, C. :
Differences in the expression and distribution of flotillin-2 in chick, mice and human muscle cells PLoS ONE, 2014 ; 9 (8) : e103990
Differences in the expression and distribution of flotillin-2 in chick, mice and human muscle cells PLoS ONE, 2014 ; 9 (8) : e103990
