Publications (1181)

Bohm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S. G., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J. F., Romero, N., Newman, W. G., Demaurex, N., Laporte, J. :
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Hum Mutat, 2017 ; 38 (4) : 426-438

Rossi, D., Palmio, J., Evila, A., Galli, L., Barone, V., Caldwell, T. A., Policke, R. A., Aldkheil, E., Berndsen, C. E., Wright, N. T., Malfatti, E., Brochier, G., Pierantozzi, E., Jordanova, A., Guergueltcheva, V., Romero, N. B., Hackman, P., Eymard, B., Udd, B., Sorrentino, V. :
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy PLoS ONE, 2017 ; 12 (10) : e0186642

Marty, B., Coppa, B., Carlier, P. G. :
Fast, precise, and accurate myocardial T1 mapping using a radial MOLLI sequence with FLASH readout Magn Reson Med, 2017 ; (SP) :

Coutelier, M., Coarelli, G., Monin, M. L., Konop, J., Davoine, C. S., Tesson, C., Valter, R., Anheim, M., Behin, A., Castelnovo, G., Charles, P., David, A., Ewenczyk, C., Fradin, M., Goizet, C., Hannequin, D., Labauge, P., Riant, F., Sarda, P., Sznajer, Y., Tison, F., Ullmann, U., Van Maldergem, L., Mochel, F., Brice, A., Stevanin, G., Durr, A., Spatax network :
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies Brain, 2017 ; 40 (6) : 1579-1594

Pimentel, M. R., Falcone, S., Cadot, B., Gomes, E. R. :
In Vitro Differentiation of Mature Myofibers for Live Imaging J Vis Exp, 2017 ; 119 : e55141

Seror, P., Stojkovic, T., Lefevre-Colau, M. M., Lenglet, T. :
Diagnosis of unilateral trapezius muscle palsy: 54 cases Muscle Nerve, 2017 ; 56 (2) : 215-223

Bourdenet, G., Dubourg, B., Nicol, L., Mulder, P., Martinet, J., Allenbach, Y., Boitard, C., Boyer, O. :
Value of magnetic resonance imaging for evaluating muscle inflammation: insights from a new mouse model of myositis Neuropathol Appl Neurobiol, 2017 ; (SP) :

Decostre, V., Laforet, P., De Antonio, M., Kachetel, K., Canal, A., Ollivier, G., Nadaj-Pakleza, A., Petit, F. M., Wahbi, K., Fayssoil, A., Eymard, B., Behin, A., Labrune, P., Hogrel, J. Y. :
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa Mol Genet Metab, 2017 ; (SP) :

Bowerman, M., Salsac, C., Bernard, V., Soulard, C., Dionne, A., Coque, E., Benlefki, S., Hince, P., Dion, P. A., Butler-Browne, G., Camu, W., Bouchard, J. P., Delpire, E., Rouleau, G. A., Raoul, C., Scamps, F. :
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects Neurobiol Dis, 2017 ; 106 : 35-48

Wu, W., Chordia, M. D., Hart, B. P., Kumarasinghe, E. S., Ji, M. K., Bhargava, A., Lawlor, M. W., Shin, J. Y., Sera, F., Homma, S., Muchir, A., Khire, U. R., Worman, H. J. :
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation Bioorg Med Chem, 2017 ; 25 (3) : 1004-1013