Young, S. P., Piraud, M., Goldstein, J. L., Zhang, H., Rehder, C., Laforet, P., Kishnani, P. S., Millington, D. S., Bashir, M. R., Bali, D. S. :
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
Am J Med Genet C Semin Med Genet, 2012 ; 160 (1) : 50-58
Publications (1184)
Benveniste, O. :
Gene therapy, an ongoing revolution Blood, 2012 ; 119 (13) : 2973-2974
Gene therapy, an ongoing revolution Blood, 2012 ; 119 (13) : 2973-2974
Furling, D. :
Misregulation of alternative splicing and microRNA processing in DM1 pathogenesis Rinsho Shinkeigaku, 2012 ; 52 (11) : 1018-22
Misregulation of alternative splicing and microRNA processing in DM1 pathogenesis Rinsho Shinkeigaku, 2012 ; 52 (11) : 1018-22
Malfatti, E., Birouk, N., Romero, N. B., Piraud, M., Petit, F. M., Hogrel, J. Y., Laforet, P. :
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency J Neurol Sci, 2012 ; 316 (1-2) : 173-177
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency J Neurol Sci, 2012 ; 316 (1-2) : 173-177
Stojkovic, T., Benyaou, R. :
Les syndromes scapulopéroniers La Lettre du Neurologue, 2012 ; 16 (1) : 16-22
Les syndromes scapulopéroniers La Lettre du Neurologue, 2012 ; 16 (1) : 16-22
Boudreau, E., Labib, S., Bertrand, A. T., Decostre, V., Bolongo, P. M., Sylvius, N., Bonne, G., Tesson, F. :
Lamin a/c mutants disturb sumo1 localization and sumoylation in vitro and in vivo PLoS ONE, 2012 ; 7 (9) : e45918
Lamin a/c mutants disturb sumo1 localization and sumoylation in vitro and in vivo PLoS ONE, 2012 ; 7 (9) : e45918
Hage Hassan, R., Hainault, I., Vilquin, J. T., Samama, C., Lasnier, F., Ferre, P., Foufelle, F., Hajduch, E. :
Endoplasmic reticulum stress does not mediate palmitate-induced insulin resistance in mouse and human muscle cells Diabetologia, 2012 ; 55 (1) : 204-214
Endoplasmic reticulum stress does not mediate palmitate-induced insulin resistance in mouse and human muscle cells Diabetologia, 2012 ; 55 (1) : 204-214
Muchir, A., Reilly, S. A., Wu, W., Iwata, S., Homma, S., Bonne, G., Worman, H. J. :
Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene Cardiovasc Res, 2012 ; 93 (2) : 311-319
Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene Cardiovasc Res, 2012 ; 93 (2) : 311-319
Wahbi, K., Duboc, D. :
Arrhythmia Management in Myotonic Dystrophy Type 1. Reply JAMA, 2012 ; 308 (4) : 338
Arrhythmia Management in Myotonic Dystrophy Type 1. Reply JAMA, 2012 ; 308 (4) : 338
Azibani, F, Devaux, Y, Coutance, G, Schlossarek, S, Polidano, E, Fazal, L, Merval, R, Carrier, L, Chatziantoniou, C, Samuel, J L, Delcayre, C :
Aldosterone inhibits the fetal program and increases hypertrophy in the heart of hypertensive mice PLoS ONE, 2012 ; 7 (5) : e38197
Aldosterone inhibits the fetal program and increases hypertrophy in the heart of hypertensive mice PLoS ONE, 2012 ; 7 (5) : e38197
