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
Publications (1181)
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
Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis Neuropathol Appl Neurobiol, 2015 ; 41 (5) : 686-689
Reijnierse, E. M., Trappenburg, M. C., Leter, M. J., Sipila, S., Stenroth, L., Narici, M. V., Hogrel, J. Y., Butler-Browne, G., McPhee, J. S., Paasuke, M., Gapeyeva, H., Meskers, C. G., Maier, A. B. :
Serum albumin and muscle measures in a cohort of healthy young and old participants Age (Dordr), 2015 ; 37 (5) : 88
Serum albumin and muscle measures in a cohort of healthy young and old participants Age (Dordr), 2015 ; 37 (5) : 88
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 ; :
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
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
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
Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis. Brain, 2015 ; 138 (Pt 9) : 2485-92
Koutalianos, D., Koutsoulidou, A., Mastroyiannopoulos, N. P., Furling, D., Phylactou, L. A. :
MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206 J Cell Sci, 2015 ; 128 (19) : 3631-45
MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206 J Cell Sci, 2015 ; 128 (19) : 3631-45
