Akman, H. O., Aykit, Y., Amuk, O. C., Malfatti, E., Romero, N. B., Maioli, M. A., Piras, R., DiMauro, S., Marrosu, G. :
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
Neuromuscul Disord, 2016 ; 26 (1) : 16-20
Publications (1184)
Bohm, M., Wachtel, M., Marques, J. G., Streiff, N., Laubscher, D., Nanni, P., Mamchaoui, K., Santoro, R., Schafer, B. W. :
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249
Bhattarai, S., Ghannam, K., Krause, S., Benveniste, O., Marg, A., de Bruin, G., Xin, B. T., Overkleeft, H. S., Spuler, S., Stenzel, W., Feist, E. :
The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies J Autoimmun, 2016 ; (SP) :
The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies J Autoimmun, 2016 ; (SP) :
Bonne, G., Sole, G. :
La Societe Francaise de Myologie a du coeur. Med Sci (Paris), 2016 ; 32 Hors serie n degrees 2 : 5
La Societe Francaise de Myologie a du coeur. Med Sci (Paris), 2016 ; 32 Hors serie n degrees 2 : 5
Perovanovic, J., Dell'Orso, S., Gnochi, V. F., Jaiswal, J. K., Sartorelli, V., Vigouroux, C., Mamchaoui, K., Mouly, V., Bonne, G., Hoffman, E. P. :
Laminopathies disrupt epigenomic developmental programs and cell fate Sci Transl Med, 2016 ; 8 (335) : 335ra58
Laminopathies disrupt epigenomic developmental programs and cell fate Sci Transl Med, 2016 ; 8 (335) : 335ra58
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
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report BMC Med Genet, 2016 ; 17 (1) : 66
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
Gomez-Andres, D., Dabaj, I., Mompoint, D., Hankiewicz, K., Azzi, V., Ioos, C., Romero, N. B., Ben Yaou, R., Bergounioux, J., Bonne, G., Richard, P., Estournet, B., Yves-Carlier, R., Quijano-Roy, S. :
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
Lacour, F, Vezin, E, Bentzinger, F, Sincennes, M C, Rudnicki, M A, Mitchell, R D, Patel, K, Chaboissier, M C, Chassot, A A, Le Grand, F :
R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669
R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669
