Gaillard, M. C., Puppo, F., Roche, S., Dion, C., Campana, E. S., Mariot, V., Chaix, C., Vovan, C., Mazaleyrat, K., Tasmadjian, A., Bernard, R., Dumonceaux, J., Attarian, S., Levy, N., Nguyen, K., Magdinier, F., Bartoli, M. :
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
BMC Med Genet, 2016 ; 17 (1) : 66
Publications (1181)
Guarani, V., Jardel, C., Chretien, D., Lombes, A., Benit, P., Labasse, C., Lacene, E., Bourillon, A., Imbard, A., Benoist, J. F., Dorboz, I., Gilleron, M., Goetzman, E. S., Gaignard, P., Slama, A., Elmaleh-Berges, M., Romero, N. B., Rustin, P., Ogier de Baulny, H., Paulo, J. A., Harper, J. W., Schiff, M. :
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Elife, 2016 ; 5 : e17163
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Elife, 2016 ; 5 : e17163
Thorley, M., Duguez, S., Mazza, E. M., Valsoni, S., Bigot, A., Mamchaoui, K., Harmon, B., Voit, T., Mouly, V., Duddy, W. :
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines Skelet Muscle, 2016 ; 6 (1) : 43
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines Skelet Muscle, 2016 ; 6 (1) : 43
Carmeille, R., Bouvet, F., Tan, S., Croissant, C., Gounou, C., Mamchaoui, K., Mouly, V., Brisson, A. R., Bouter, A. :
Membrane repair of human skeletal muscle cells requires Annexin-A5 Biochim Biophys Acta, 2016 ; 1863 (9) : 2267-79
Membrane repair of human skeletal muscle cells requires Annexin-A5 Biochim Biophys Acta, 2016 ; 1863 (9) : 2267-79
Bradburn, S., McPhee, J. S., Bagley, L., Sipila, S., Stenroth, L., Narici, M. V., Paasuke, M., Gapeyeva, H., Osborne, G., Sassano, L., Meskers, C. G., Maier, A. B., Hogrel, J. Y., Barnouin, Y., Butler-Browne, G., Murgatroyd, C. :
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; (SP) :
Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; (SP) :
Fraysse, B., Guicheney, P., Bitoun, M. :
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Biol Open, 2016 ; 5 (11) : 1691-1696
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Biol Open, 2016 ; 5 (11) : 1691-1696
Hewson, D. J., Duchene, J., Hogrel, J. Y. :
Validation of balance-quality assessment using a modified bathroom scale Physiol Meas, 2015 ; 36 (2) : 207-18
Validation of balance-quality assessment using a modified bathroom scale Physiol Meas, 2015 ; 36 (2) : 207-18
Zalc, A., Rattenbach, R., Aurade, F., Cadot, B., Relaix, F. :
Pax3 and Pax7 Play Essential Safeguard Functions against Environmental Stress-Induced Birth Defects Dev Cell, 2015 ; 33 (1) : 56-66
Pax3 and Pax7 Play Essential Safeguard Functions against Environmental Stress-Induced Birth Defects Dev Cell, 2015 ; 33 (1) : 56-66
Meyer, A., Lefevre, G., Bierry, G., Duval, A., Ottaviani, S., Meyer, O., Tournadre, A., Le Goff, B., Messer, L., Buchdahl, A. L., De Bandt, M., Deligny, C., Dubois, M., Coquerelle, P., Falgarone, G., Flipo, R. M., Mathian, A., Geny, B., Amoura, Z., Benveniste, O., Hachulla, E., Sibilia, J., Hervier, B. :
In antisynthetase syndrome, ACPA are associated with severe and erosive arthritis: an overlapping rheumatoid arthritis and antisynthetase syndrome Medicine (Baltimore), 2015 ; 94 (20) : e523
In antisynthetase syndrome, ACPA are associated with severe and erosive arthritis: an overlapping rheumatoid arthritis and antisynthetase syndrome Medicine (Baltimore), 2015 ; 94 (20) : e523
Rocheteau, P., Chatre, L., Briand, D., Mebarki, M., Jouvion, G., Bardon, J., Crochemore, C., Serrani, P., Lecci, P. P., Latil, M., Matot, B., Carlier, P. G., Latronico, N., Huchet, C., Lafoux, A., Sharshar, T., Ricchetti, M., Chretien, F. :
Sepsis induces long-term metabolic and mitochondrial muscle stem cell dysfunction amenable by mesenchymal stem cell therapy Nat Commun, 2015 ; 6 : 10145
Sepsis induces long-term metabolic and mitochondrial muscle stem cell dysfunction amenable by mesenchymal stem cell therapy Nat Commun, 2015 ; 6 : 10145
