Gentil, C, Leturcq, F, Ben Yaou, R, Kaplan, J. C., Laforet, P, Penisson-Besnier, I., Espil-Taris, C, Voit, T, Garcia, L, Piétri-Rouxel, F :
Variable phenotype of delta-45-55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation.
Hum Mol Genet, 2012 ; 21 (15) : 3449-3460
Publications (1184)
Matsakas, A., Macharia, R., Otto, A., Elashry, M., Mouisel, E., Romanello, V., Sartori, R., Amthor, H., Sandri, M., Narkar, V., Patel, K. :
Exercise-training attenuates the hyper-muscular phenotype and restores skeletal muscle function in the myostatin null mouse Exp Physiol, 2012 ; 97 (1) : 125-140
Exercise-training attenuates the hyper-muscular phenotype and restores skeletal muscle function in the myostatin null mouse Exp Physiol, 2012 ; 97 (1) : 125-140
van der Ploeg, A. T., Barohn, R., Carlson, L., Charrow, J., Clemens, P. R., Hopkin, R. J., Kishnani, P. S., Laforet, P., Morgan, C., Nations, S., Pestronk, A., Plotkin, H., Rosenbloom, B. E., Sims, K. B., Tsao, E. :
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa Mol Genet Metab, 2012 ; 107 (3) : 456-461
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa Mol Genet Metab, 2012 ; 107 (3) : 456-461
Charron, P, Arbustini, E, Bonne, G :
What should the cardiologist know about lamin disease ? Arrhythm Electrophysiol Rev, 2012 ; 1 (1) : 22-8
What should the cardiologist know about lamin disease ? Arrhythm Electrophysiol Rev, 2012 ; 1 (1) : 22-8
Hervier, B., Devilliers, H., Stanciu, R., Meyer, A., Uzunhan, Y., Masseau, A., Dubucquoi, S., Hatron, P. Y., Musset, L., Wallaert, B., Nunes, H., Maisonobe, T., Olsson, N. O., Adoue, D., Arlet, P., Sibilia, J., Guiguet, M., Lauque, D., Amoura, Z., Hachulla, E., Hamidou, M., Benveniste, O. :
Hierarchical cluster and survival analyses of antisynthetase syndrome: Phenotype and outcome are correlated with anti-tRNA synthetase antibody specificity Autoimmun Rev, 2012 ; 12 (2) : 210-7
Hierarchical cluster and survival analyses of antisynthetase syndrome: Phenotype and outcome are correlated with anti-tRNA synthetase antibody specificity Autoimmun Rev, 2012 ; 12 (2) : 210-7
Outteryck, O., de Seze, J., Stojkovic, T., Cuisset, J. M., Dobbelaere, D., Delalande, S., Lacour, A., Cabaret, M., Lepoutre, A. C., Deramecourt, V., Zephir, H., Fowler, B., Vermersch, P. :
Methionine synthase deficiency: A rare cause of adult-onset leukoencephalopathy Neurology, 2012 ; 79 (4) : 386-388
Methionine synthase deficiency: A rare cause of adult-onset leukoencephalopathy Neurology, 2012 ; 79 (4) : 386-388
Wargon, I., Richard, P., Kuntzer, T., Sternberg, D., Nafissi, S., Gaudon, K., Lebail, A., Bauche, S., Hantai, D., Fournier, E., Eymard, B., Stojkovic, T. :
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations Neuromuscul Disord, 2012 ; 22 (4) : 318-324
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations Neuromuscul Disord, 2012 ; 22 (4) : 318-324
Baudin, P. Y., Azzabou, N., Carlier, P. G., Paragios, N. :
Prior knowledge, random walks and human skeletal muscle segmentation Med Image Comput Comput Assist Interv - MICCAI, 2012 ; 15 (Pt 1) : 569-76
Prior knowledge, random walks and human skeletal muscle segmentation Med Image Comput Comput Assist Interv - MICCAI, 2012 ; 15 (Pt 1) : 569-76
Duboc, D., Wahbi, K. :
What is the best way to detect infra-Hisian conduction abnormalities and prevent sudden cardiac death in myotonic dystrophy? Heart, 2012 ; 98 (6) : 433-4
What is the best way to detect infra-Hisian conduction abnormalities and prevent sudden cardiac death in myotonic dystrophy? Heart, 2012 ; 98 (6) : 433-4
Laforet, P., Orngreen, M., Preisler, N., Andersen, G., Vissing, J. :
Blocked muscle fat oxidation during exercise in neutral lipid storage disease Arch Neurol, 2012 ; 69 (4) : 530-3
Blocked muscle fat oxidation during exercise in neutral lipid storage disease Arch Neurol, 2012 ; 69 (4) : 530-3
