Douniol, M., Jacquette, A., Cohen, D., Bodeau, N., Rachidi, L., Angeard, N., Cuisset, J. M., Vallee, L., Eymard, B., Plaza, M., Heron, D., Guile, J. M. :
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1
Dev Med Child Neurol, 2012 ; 54 (10) : 905-11
Publications (1181)
Krom, Y. D., Dumonceaux, J., Mamchoui, K., den Hamer, B., Mariot, V., Negroni, E., Geng, L. N., Martin, N., Tawil, R., Tapscott, S. J., van Engelen, B. G., Mouly, V., Butler-Browne, G. S., van der Maarel, S. M. :
Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD Am J Pathol, 2012 ; 181 (4) : 1387-401
Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD Am J Pathol, 2012 ; 181 (4) : 1387-401
Riederer, I., Negroni, E., Bencze, M., Wolff, A., Aamiri, A., Di Santo, J. P., Silva-Barbosa, S. D., Butler-Browne, G., Savino, W., Mouly, V. :
Slowing Down Differentiation of Engrafted Human Myoblasts Into Immunodeficient Mice Correlates With Increased Proliferation and Migration Mol Ther, 2012 ; 20 (1) : 146-154
Slowing Down Differentiation of Engrafted Human Myoblasts Into Immunodeficient Mice Correlates With Increased Proliferation and Migration Mol Ther, 2012 ; 20 (1) : 146-154
Biancalana, V., Beggs, A. H., Das, S., Jungbluth, H., Kress, W., Nishino, I., North, K., Romero, N. B., Laporte, J. :
Clinical utility gene card for: Centronuclear and myotubular myopathies Eur J Hum Genet, 2012 ; 20 :
Clinical utility gene card for: Centronuclear and myotubular myopathies Eur J Hum Genet, 2012 ; 20 :
Geier, C, Schultze-Bahr, E, Bonne, G. :
Guiding the molecular diagnosis of hypertrophic cardiomyopathy J Thorac Cardiovasc Surg, 2012 ; 143 (5) : 1234
Guiding the molecular diagnosis of hypertrophic cardiomyopathy J Thorac Cardiovasc Surg, 2012 ; 143 (5) : 1234
Marston, S., Copeland, O., Gehmlich, K., Schlossarek, S., Carrrier, L. :
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J Muscle Res Cell Motil, 2012 ; 33 : 75-80
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J Muscle Res Cell Motil, 2012 ; 33 : 75-80
Ucar, A., Gupta, S. K., Fiedler, J., Erikci, E., Kardasinski, M., Batkai, S., Dangwal, S., Kumarswamy, R., Bang, C., Holzmann, A., Remke, J., Caprio, M., Jentzsch, C., Engelhardt, S., Geisendorf, S., Glas, C., Hofmann, T. G., Nessling, M., Richter, K., Schiffer, M., Carrier, L., Napp, L. C., Bauersachs, J., Chowdhury, K., Thum, T. :
The miRNA-212/132 family regulates both cardiac hypertrophy and cardiomyocyte autophagy Nat Commun, 2012 ; 3 : 1078
The miRNA-212/132 family regulates both cardiac hypertrophy and cardiomyocyte autophagy Nat Commun, 2012 ; 3 : 1078
Castets, P., Lescure, A., Guicheney, P., Allamand, V. :
Selenoprotein N in skeletal muscle: from diseases to function J Mol Med (Berl), 2012 ; 90 (10) : 1095-1107
Selenoprotein N in skeletal muscle: from diseases to function J Mol Med (Berl), 2012 ; 90 (10) : 1095-1107
Herson, S., Hentati, F., Rigolet, A., Behin, A., Romero, N. B., Leturcq, F., Laforet, P., Maisonobe, T., Amouri, R., Haddad, H., Audit, M., Montus, M., Masurier, C., Gjata, B., Georger, C., Cherai, M., Carlier, P., Hogrel, J. Y., Herson, A., Allenbach, Y., Lemoine, F. M., Klatzmann, D., Sweeney, H. L., Mulligan, R. C., Eymard, B., Caizergues, D., Voit, T., Benveniste, O. :
A phase I trial of adeno-associated virus serotype 1-gamma-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C Brain, 2012 ; 135 (Pt 2) : 483-492
A phase I trial of adeno-associated virus serotype 1-gamma-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C Brain, 2012 ; 135 (Pt 2) : 483-492
Ochala, J., Gokhin, D. S., Penisson-Besnier, I., Quijano-Roy, S., Monnier, N., Lunardi, J., Romero, N. B., Fowler, V. M. :
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms Hum Mol Genet, 2012 ; 21 (20) : 4473-85
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms Hum Mol Genet, 2012 ; 21 (20) : 4473-85
