Publications (1181)

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
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
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
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
Hourez, R., Servais, L., Orduz, D., Gall, D., Millard, I., de Kerchove d'Exaerde, A., Cheron, G., Orr, H. T., Pandolfo, M., Schiffmann, S. N. :
Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1 J Neurosci, 2011 ; 31 (33) : 11795-807
Payan, C. A., Viallet, F., Landwehrmeyer, B. G., Bonnet, A. M., Borg, M., Durif, F., Lacomblez, L., Bloch, F., Verny, M., Fermanian, J., Agid, Y., Ludolph, A. C., Leigh, P. N., Bensimon, G. :
Disease Severity and Progression in Progressive Supranuclear Palsy and Multiple System Atrophy: Validation of the NNIPPS – PARKINSON PLUS SCALE PLoS ONE, 2011 ; 6 (8) : e22293
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