Publications (1184)

Decorte, N., Lamalle, L., Carlier, P. G., Giacomini, E., Guinot, M., Levy, P., Verges, S., Wuyam, B. :
Impact of salbutamol on muscle metabolism assessed by PNMR spectroscopy Scand J Med Sci Sports, 2015 ; 25 (3) : e267-73
Berger, A., Lorain, S., Josephine, C., Desrosiers, M., Peccate, C., Voit, T., Garcia, L., Sahel, J. A., Bemelmans, A. P. :
Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa Mol Ther, 2015 ; 23 (5) : 918-930
Nunes, J. C., Rinnenthal, J. L., Allenbach, Y., Lenze, D., Hummel, M., Johrens, K., Walz, R., Goebel, H. H., Heppner, F. L., Stenzel, W. :
Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis Neuropathol Appl Neurobiol, 2015 ; 41 (5) : 686-689
Dieval, C., Deligny, C., Meyer, A., Cluzel, P., Champtiaux, N., Lefevre, G., Saadoun, D., Sibilia, J., Pellegrin, J. L., Hachulla, E., Benveniste, O., Hervier, B. :
Myocarditis in Patients With Antisynthetase Syndrome: Prevalence, Presentation, and Outcomes Medicine (Baltimore), 2015 ; 94 (26) : e798
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
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
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
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
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
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