Mescam-Mancini, L, Allenbach, Y, Hervier, B, Devilliers, H, Mariampillay, K, Dubourg, O, Maisonobe, T, Gherardi, R, Mezin, P, Preusse, C, Stenzel, W, Benveniste, O :
Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis.
Brain, 2015 ; 138 (Pt 9) : 2485-92
Publications (1184)
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
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Neurology, 2015 ; 85 (24) : 2126-35
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
Anthony, K., Arechavala-Gomeza, V., Taylor, L. E., Vulin, A., Kaminoh, Y., Torelli, S., Feng, L., Janghra, N., Bonne, G., Beuvin, M., Barresi, R., Henderson, M., Laval, S., Lourbakos, A., Campion, G., Straub, V., Voit, T., Sewry, C. A., Morgan, J. E., Flanigan, K. M., Muntoni, F. :
Dystrophin quantification: Biological and translational research implications Neurology, 2014 ; 83 (22) : 2062-9
Dystrophin quantification: Biological and translational research implications Neurology, 2014 ; 83 (22) : 2062-9
Castiglioni, C., Cassandrini, D., Fattori, F., Bellacchio, E., D'Amico, A., Alvarez, K., Gejman, R., Diaz, J., Santorelli, F. M., Romero, N. B., Bertini, E., Bevilacqua, J. A. :
Muscle MRI and histopathology in ACTA1-related congenital nemaline myopathy Muscle Nerve, 2014 ; 50 (6) : 1011-6
Muscle MRI and histopathology in ACTA1-related congenital nemaline myopathy Muscle Nerve, 2014 ; 50 (6) : 1011-6
Gauthier, M., Marteyn, A., Denis, J. A., Cailleret, M., Giraud-Triboult, K., Aubert, S., Lecuyer, C., Marie, J., Furling, D., Vernet, R., Yanguas, C., Baldeschi, C., Pietu, G., Peschanski, M., Martinat, C. :
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2014 ; 22 (25) : 5188-98
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 Hum Mol Genet, 2014 ; 22 (25) : 5188-98
Périé, S, Trollet, C, Mouly, V, Vanneaux, V, Mamchaoui, K, Bouazza, B, Marolleau, J P, Laforêt, P, Chapon, F, Eymard, B, Butler-Browne, G, Larghero, J, Lacau St Guily, J. :
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a Phase I/IIa clinical study. Mol Ther, 2014 ; 22 (1) : 219-25
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a Phase I/IIa clinical study. Mol Ther, 2014 ; 22 (1) : 219-25
