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
Publications (1184)
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
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
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
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
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
Enhanced myofilament responsiveness upon beta-adrenergic stimulation in post-infarct remodeled myocardium J Mol Cell Cardiol, 2011 ; 50 (3) : 487-499
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
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
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
de Sousa, P. L., Vignaud, A., Fleury, S., Carlier, P. G. :
Fast monitoring of T(1) , T(2) , and relative proton density (M(0) ) changes in skeletal muscles using an IR-TrueFISP sequence J Magn Reson Imaging, 2011 ; 33 (4) : 921-30
Fast monitoring of T(1) , T(2) , and relative proton density (M(0) ) changes in skeletal muscles using an IR-TrueFISP sequence J Magn Reson Imaging, 2011 ; 33 (4) : 921-30
Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. :
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency J Med Genet, 2011 ; 48 (1) : 16-23
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency J Med Genet, 2011 ; 48 (1) : 16-23
