De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Olaso, R., Udd, B., Bonne, G., Eymard, B., Richard, I. :
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy
Neurology, 2015 ; 85 (24) : 2126-35
Publications (1184)
Pinto-Mariz, F., Rodrigues Carvalho, L., Prufer De Queiroz Campos Araujo, A., De Mello, W., Goncalves Ribeiro, M., Cunha Mdo, C., Cabello, P. H., Riederer, I., Negroni, E., Desguerre, I., Veras, M., Yada, E., Allenbach, Y., Benveniste, O., Voit, T., Mouly, V., Silva-Barbosa, S. D., Butler-Browne, G., Savino, W. :
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy Skelet Muscle, 2015 ; 5 : 45
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy Skelet Muscle, 2015 ; 5 : 45
Tchikviladze, M., Gilleron, M., Maisonobe, T., Galanaud, D., Laforet, P., Durr, A., Eymard, B., Mochel, F., Ogier, H., Behin, A., Stojkovic, T., Degos, B., Gourfinkel-An, I., Sedel, F., Anheim, M., Elbaz, A., Viala, K., Vidailhet, M., Brice, A., Jardel, C., Lombes, A. :
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity J Neurol Neurosurg Psychiatry, 2015 ; 86 (6) : 646-654
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity J Neurol Neurosurg Psychiatry, 2015 ; 86 (6) : 646-654
Echigoya, Y., Mouly, V., Garcia, L., Yokota, T., Duddy, W. :
In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in duchenne muscular dystrophy PLoS ONE, 2015 ; 10 (3) : e0120058
In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in duchenne muscular dystrophy PLoS ONE, 2015 ; 10 (3) : e0120058
Semplicini, C., Vissing, J., Dahlqvist, J. R., Stojkovic, T., Bello, L., Witting, N., Duno, M., Leturcq, F., Bertolin, C., D'Ambrosio, P., Eymard, B., Angelini, C., Politano, L., Laforet, P., Pegoraro, E. :
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Neurology, 2015 ; 84 (17) : 1772-1781
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Neurology, 2015 ; 84 (17) : 1772-1781
Hogrel, J. Y. :
Grip strength measured by high precision dynamometry in healthy subjects from 5 to 80 years BMC Musculoskelet Disord, 2015 ; 16 : 139
Grip strength measured by high precision dynamometry in healthy subjects from 5 to 80 years BMC Musculoskelet Disord, 2015 ; 16 : 139
Al-Dabbagh, S., McPhee, J. S., Murgatroyd, C., Butler-Browne, G., Stewart, C. E., Al-Shanti, N. :
The lymphocyte secretome from young adults enhances skeletal muscle proliferation and migration, but effects are attenuated in the secretome of older adults Physiol Rep, 2015 ; 3 (11) :
The lymphocyte secretome from young adults enhances skeletal muscle proliferation and migration, but effects are attenuated in the secretome of older adults Physiol Rep, 2015 ; 3 (11) :
Kostallari, E., Baba-Amer, Y., Alonso-Martin, S., Ngoh, P., Relaix, F., Lafuste, P., Gherardi, R. K. :
Pericytes in the myovascular niche promote post-natal myofiber growth and satellite cell quiescence Development, 2015 ; 142 (7) : 1242-53
Pericytes in the myovascular niche promote post-natal myofiber growth and satellite cell quiescence Development, 2015 ; 142 (7) : 1242-53
Garel, B., Barete, S., Rigolet, A., Pelletier, F. L., Benveniste, O., Hervier, B. :
Severe adult dermatomyositis with unusual calcinosis Rheumatology (Oxford), 2015 ; 54 (11) : 2024
Severe adult dermatomyositis with unusual calcinosis Rheumatology (Oxford), 2015 ; 54 (11) : 2024
Mochel, F., Hainque, E., Gras, D., Adanyeguh, I. M., Caillet, S., Heron, B., Roubertie, A., Kaphan, E., Valabregue, R., Rinaldi, D., Vuillaumier, S., Schiffmann, R., Ottolenghi, C., Hogrel, J. Y., Servais, L., Roze, E. :
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency J Neurol Neurosurg Psychiatry, 2015 ; :
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency J Neurol Neurosurg Psychiatry, 2015 ; :
