Publications (1184)

Ostergaard, S. T., Johnson, K., Stojkovic, T., Krag, T., De Ridder, W., De Jonghe, P., Baets, J., Claeys, K. G., Fernandez-Torron, R., Phillips, L., Topf, A., Colomer, J., Nafissi, S., Jamal-Omidi, S., Bouchet-Seraphin, C., Leturcq, F., MacArthur, D. G., Lek, M., Xu, L., Nelson, I., Straub, V., Vissing, J. :
Limb girdle muscular dystrophy due to mutations in POMT2 J Neurol Neurosurg Psychiatry, 2017 ; (SP) :
Abath Neto, O., Moreno, C. A. M., Malfatti, E., Donkervoort, S., Bohm, J., Guimaraes, J. B., Foley, A. R., Mohassel, P., Dastgir, J., Bharucha-Goebel, D. X., Monges, S., Lubieniecki, F., Collins, J., Medne, L., Santi, M., Yum, S., Banwell, B., Salort-Campana, E., Rendu, J., Faure, J., Yis, U., Eymard, B., Cheraud, C., Schneider, R., Thompson, J., Lornage, X., Mesrob, L., Lechner, D., Boland, A., Deleuze, J. F., Reed, U. C., Oliveira, A. S. B., Biancalana, V., Romero, N. B., Bonnemann, C. G., Laporte, J., Zanoteli, E. :
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients Neuromuscul Disord, 2017 ; 27 (11) : 975-985
Mamrut, S., Avidan, N., Truffault, F., Staun-Ram, E., Sharshar, T., Eymard, B., Frenkian, M., Pitha, J., de Baets, M., Servais, L., Berrih-Aknin, S., Miller, A. :
Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins J Autoimmun, 2017 ; 82 : 62-73
Jimenez-Moreno, A. C., Newman, J., Charman, S. J., Catt, M., Trenell, M. I., Gorman, G. S., Hogrel, J. Y., Lochmuller, H. :
Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review J Neuromuscul Dis, 2017 ; 4 (1) : 25-52
Rothwell, S., Cooper, R. G., Lundberg, I. E., Gregersen, P. K., Hanna, M. G., Machado, P. M., Herbert, M. K., Pruijn, G. J., Lilleker, J. B., Roberts, M., Bowes, J., Seldin, M. F., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Platt, H., Molberg, O., Benveniste, O., Radstake, T. R., Doria, A., De Bleecker, J., De Paepe, B., Gieger, C., Meitinger, T., Winkelmann, J., Amos, C. I., Ollier, W. E., Padyukov, L., Lee, A. T., Lamb, J. A., Chinoy, H. :
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum Arthritis Rheumatol, 2017 ; 69 (5) : 1090-1099
Ruiz-Del-Yerro, E., Garcia-Jimenez, I., Mamchaoui, K., Arechavala-Gomeza, V. :
Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of DMD treatments Neuropathol Appl Neurobiol, 2017 ; (SP) :
Stantzou, A., Schirwis, E., Swist, S., Alonso-Martin, S., Polydorou, I., Zarrouki, F., Mouisel, E., Beley, C., Julien, A., Le Grand, F., Garcia, L., Colnot, C., Birchmeier, C., Braun, T., Schuelke, M., Relaix, F., Amthor, H. :
BMP signaling regulates satellite cell-dependent postnatal muscle growth Development, 2017 ; 144 (15) : 2737-2747
Monge, C., DiStasio, N., Rossi, T., Sebastien, M., Sakai, H., Kalman, B., Boudou, T., Tajbakhsh, S., Marty, I., Bigot, A., Mouly, V., Picart, C. :
Quiescence of human muscle stem cells is favored by culture on natural biopolymeric films Stem Cell Res Ther, 2017 ; 8 (1) : 104
Arandel, L., Polay-Espinosa, M., Matloka, M., Bazinet, A., De Dea Diniz, D., Naouar, N., Rau, F., Jollet, A., Edom-Vovard, F., Mamchaoui, K., Tarnopolsky, M., Puymirat, J., Battail, C., Boland, A., Deleuze, J. F., Mouly, V., Klein, A. F., Furling, D. :
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds Dis Model Mech, 2017 ; 10 (4) : 487-497
Wahbi, K., Babuty, D., Probst, V., Wissocque, L., Labombarda, F., Porcher, R., Becane, H. M., Lazarus, A., Behin, A., Laforet, P., Stojkovic, T., Clementy, N., Dussauge, A. P., Gourraud, J. B., Pereon, Y., Lacour, A., Chapon, F., Milliez, P., Klug, D., Eymard, B., Duboc, D. :
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1 Eur Heart J, 2017 ; (SP) :