Publications (1181)

Hogrel, J. Y. :
DM1 et essais thérapeutiques : critères neuromusculaires d’évaluation Cahier de Myologie, 2011 ; 5 : 11-14
Orlikowski, D., Pellegrini, N., Prigent, H., Laforet, P., Carlier, R., Carlier, P. G., Eymard, B., Lofaso, F., Annane, D. :
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease Neuromuscul Disord, 2011 ; 21 (7) : 477-482
Dallerac, G., Perronnet, C., Chagneau, C., Leblanc-Veyrac, P., Samson-Desvignes, N., Peltekian, E., Danos, O., Garcia, L., Laroche, S., Billard, J. M., Vaillend, C. :
Rescue of a dystrophin-like protein by exon skipping normalizes synaptic plasticity in the hippocampus of the mdx mouse Neurobiol Dis, 2011 ; 43 (3) : 635-641
Larue, S., Maisonobe, T., Benveniste, O., Chapelon-Abric, C., Lidove, O., Papo, T., Eymard, B., Dubourg, O. :
Distal muscle involvement in granulomatous myositis can mimic inclusion body myositis J Neurol Neurosurg Psychiatry, 2011 ; 82 (6) : 674-7
Senderek, J., Muller, J. S., Dusl, M., Strom, T. M., Guergueltcheva, V., Diepolder, I., Laval, S. H., Maxwell, S., Cossins, J., Krause, S., Muelas, N., Vilchez, J. J., Colomer, J., Mallebrera, C. J., Nascimento, A., Nafissi, S., Kariminejad, A., Nilipour, Y., Bozorgmehr, B., Najmabadi, H., Rodolico, C., Sieb, J. P., Steinlein, O. K., Schlotter, B., Schoser, B., Kirschner, J., Herrmann, R., Voit, T., Oldfors, A., Lindbergh, C., Urtizberea, A., von der Hagen, M., Hubner, A., Palace, J., Bushby, K., Straub, V., Beeson, D., Abicht, A., Lochmuller, H. :
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect Am J Hum Genet, 2011 ; 88 (2) : 162-172
Ben Yaou, R., Navarro, C., Quijano-Roy, S., Bertrand, A. T., Massart, C., De Sandre-Giovannoli, A., Cadinanos, J., Mamchaoui, K., Butler-Browne, G., Estournet, B., Richard, P., Barois, A., Levy, N., Bonne, G. :
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation Eur J Hum Genet, 2011 ; 19 (6) : 647-654
Fugier, C., Klein, A. F., Hammer, C., Vassilopoulos, S., Ivarsson, Y., Toussaint, A., Tosch, V., Vignaud, A., Ferry, A., Messaddeq, N., Kokunai, Y., Tsuburaya, R., de la Grange, P., Dembele, D., Francois, V., Precigout, G., Boulade-Ladame, C., Hummel, M. C., de Munain, A. L., Sergeant, N., Laquerriere, A., Thibault, C., Deryckere, F., Auboeuf, D., Garcia, L., Zimmermann, P., Udd, B., Schoser, B., Takahashi, M. P., Nishino, I., Bassez, G., Laporte, J., Furling, D., Charlet-Berguerand, N. :
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy Nat Med, 2011 ; 17 (6) : 720-5
Meune, C., Avouac, J., Airo, P., Beretta, L., Dieude, P., Wahbi, K., Caramaschi, P., Tiev, K., Cappelli, S., Diot, E., Vacca, A., Cracowski, J. L., Sibilia, J., Kahan, A., Matucci-Cerinic, M., Allanore, Y. :
Prediction of pulmonary hypertension related to systemic sclerosis by an index based on simple clinical observations Arthritis Rheum, 2011 ; 63 (9) : 2790-2796
Wahbi, K., Ederhy, S., Becane, H. M., Meune, C., Behin, A., Stojkovic, T., Laforet, P., Eymard, B., Duboc, D., Cohen, A. :
Impaired myocardial deformation detected by speckle-tracking echocardiography in patients with myotonic dystrophy type 1 Int J Cardiol, 2011 ; 152 (3) : 375-376
Boontje, N. M., Merkus, D., Zaremba, R., Versteilen, A., de Waard, M. C., Mearini, G., de Beer, V. J., Carrier, L., Walker, L. A., Niessen, H. W., Dobrev, D., Stienen, G. J., Duncker, D. J., van der Velden, J. :
Enhanced myofilament responsiveness upon beta-adrenergic stimulation in post-infarct remodeled myocardium J Mol Cell Cardiol, 2011 ; 50 (3) : 487-499