Publications (1184)

Raess, M. A., Cowling, B. S., Bertazzi, D. L., Kretz, C., Rinaldi, B., Xuereb, J. M., Kessler, P., Romero, N. B., Payrastre, B., Friant, S., Laporte, J. :
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy Hum Mol Genet, 2017 ; 26 (19) : 3736-3748
Papadopoulos, C., Orlikowski, D., Prigent, H., Lacour, A., Tard, C., Furby, A., Praline, J., Sole, G., Hogrel, J. Y., De Antonio, M., Semplicini, C., Deibener-Kaminsky, J., Kaminsky, P., Eymard, B., Taouagh, N., Perniconi, B., Hamroun, D., Laforet, P. :
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme(R)) in 12 patients with advanced late-onset Pompe disease Mol Genet Metab, 2017 ; (SP) :
Kishnani, P., Tarnopolsky, M., Roberts, M., Sivakumar, K., Dasouki, M., Dimachkie, M. M., Finanger, E., Goker-Alpan, O., Guter, K. A., Mozaffar, T., Pervaiz, M. A., Laforet, P., Levine, T., Adera, M., Lazauskas, R., Sitaraman, S., Khanna, R., Benjamin, E., Feng, J., Flanagan, J. J., Barth, J., Barlow, C., Lockhart, D. J., Valenzano, K. J., Boudes, P., Johnson, F. K., Byrne, B. :
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid alpha-Glucosidase in Pompe Patients Co-administered with Alglucosidase alpha Mol Ther, 2017 ; 25 (5) : 1199-1208
Lilleker, J. B., Rietveld, A., Pye, S. R., Mariampillai, K., Benveniste, O., Peeters, M. T., Miller, J. A., Hanna, M. G., Machado, P. M., Parton, M. J., Gheorghe, K. R., Badrising, U. A., Lundberg, I. E., Sacconi, S., Herbert, M. K., McHugh, N. J., Lecky, B. R., Brierley, C., Hilton-Jones, D., Lamb, J. A., Roberts, M. E., Cooper, R. G., Saris, C. G., Pruijn, G. J., Chinoy, H., van Engelen, B. G., all, Ukmyonet contributors :
Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis Ann Rheum Dis, 2017 ; 76 (5) : 862-868
Hachulla, E., Benveniste, O., Hachulla, E., Hamidou, M., Mouthon, L., Lozeron, P., Leger, J. M., Schleinitz, N., Vial, C., Viala, K. :
High dose subcutaneous immunoglobulin for idiopathic inflammatory myopathies and dysimmune peripheral chronic neuropathies treatment: observational study of quality of life and tolerance Int J Neurosci, 2017 ; 127 (6) : 516-523
Captur, G., Arbustini, E., Bonne, G., Syrris, P., Mills, K., Wahbi, K., Mohiddin, S. A., McKenna, W. J., Pettit, S., Ho, C. Y., Muchir, A., Gissen, P., Elliott, P. M., Moon, J. C. :
Lamin and the heart Heart, 2017 ; (SP) :
Dragin, N., Nancy, P., Villegas, J., Roussin, R., Panse, R. L., Berrih-Aknin, S. :
Balance between Estrogens and Proinflammatory Cytokines Regulates Chemokine Production Involved in Thymic Germinal Center Formation Sci Rep, 2017 ; 7 (1) : 7970
Bachasson, D., Landon-Cardinal, O., Benveniste, O., Hogrel, J. Y., Allenbach, Y. :
Physical Activity Monitoring: A Promising Outcome Measure in Idiopathic Inflammatory Myopathies Neurology, 2017 ; 89 (1) : 101-103
Le Panse, R. :
Comment on “Detecting Key Genes Regulated by miRNAs in Dysfunctional Crosstalk Pathway of Myasthenia Gravis” Biomed Res Int, 2017 ; 2017 : 6950308
Gargiulo, M., Tezenas du Montcel, S., Jutras, M. F., Herson, A., Cazeneuve, C., Durr, A. :
A liminal stage after predictive testing for Huntington disease J Med Genet, 2017 ; 54 (8) : 511-520