Publications (1184)

Berrih-Aknin, S. :
Myasthenia Gravis: Paradox versus paradigm in autoimmunity J Autoimmun, 2014 ; 52C : 1-28
Drouot, L., Allenbach, Y., Jouen, F., Charuel, J. L., Martinet, J., Meyer, A., Hinschberger, O., Bader-Meunier, B., Kone-Paut, I., Campana-Salort, E., Eymard, B., Tournadre, A., Musset, L., Sibilia, J., Marie, I., Benveniste, O., Boyer, O. :
Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies Arthritis Res Ther, 2014 ; 16 (1) : R39
Lehtokari, V. L., Kiiski, K., Sandaradura, S. A., Laporte, J., Repo, P., Frey, J. A., Donner, K., Marttila, M., Saunders, C., Barth, P. G., den Dunnen, J. T., Beggs, A., Clarke, N. F., North, K. N., Laing, N. G., Romero, N. B., Winder, T. L., Pelin, K., Wallgren-Pettersson, C. :
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies Hum Mutat, 2014 ; 35(12):1418-26 (12) : 1418-26
Servais, L., Aubert, G. :
Images in clinical medicine. Muscular dystrophy N Engl J Med, 2014 ; 371 (23) : e35
Bolocan, A., Quijano-Roy, S., Seferian, A. M., Baumann, C., Allamand, V., Richard, P., Estournet, B., Carlier, R., Cave, H., Gartioux, C., Blin, N., Le Moing, A. G., Gidaro, T., Germain, D. P., Fardeau, M., Voit, T., Servais, L., Romero, N. B. :
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation Neuromuscul Disord, 2014 ; 24(11):993-8 (11) : 993-8
Flanigan, K. M., Voit, T., Rosales, X. Q., Servais, L., Kraus, J. E., Wardell, C., Morgan, A., Dorricott, S., Nakielny, J., Quarcoo, N., Liefaard, L., Drury, T., Campion, G., Wright, P. :
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial Neuromuscul Disord, 2014 ; 24 (1) : 16-24
Nathwani, A. C., Reiss, U. M., Tuddenham, E. G., Rosales, C., Chowdary, P., McIntosh, J., Della Peruta, M., Lheriteau, E., Patel, N., Raj, D., Riddell, A., Pie, J., Rangarajan, S., Bevan, D., Recht, M., Shen, Y. M., Halka, K. G., Basner-Tschakarjan, E., Mingozzi, F., High, K. A., Allay, J., Kay, M. A., Ng, C. Y., Zhou, J., Cancio, M., Morton, C. L., Gray, J. T., Srivastava, D., Nienhuis, A. W., Davidoff, A. M. :
Long-term safety and efficacy of factor IX gene therapy in hemophilia B N Engl J Med, 2014 ; 371 (21) : 1994-2004
Vassilopoulos, S., Gentil, C., Laine, J., Buclez, P. O., Franck, A., Ferry, A., Precigout, G., Roth, R., Heuser, J. E., Brodsky, F. M., Garcia, L., Bonne, G., Voit, T., Pietri-Rouxel, F., Bitoun, M. :
Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization J Cell Biol, 2014 ; 205 (3) : 377-93
Baraibar, M., Hyzewicz, J., Rogowska-Wrzesinska, A., Bulteau, A. L., Prip-Buus, C., Butler-Browne, G., Friguet, B. :
Impaired metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Free Radic Biol Med, 2014 ; 75 Suppl 1 : S23
Avidan, N., Le Panse, R., Harbo, H. F., Bernasconi, P., Poulas, K., Ginzburg, E., Cavalcante, P., Colleoni, L., Baggi, F., Antozzi, C., Truffault, F., Horn-Saban, S., Poschel, S., Zagoriti, Z., Maniaol, A., Lie, B. A., Bernard, I., Saoudi, A., Illes, Z., Casasnovas Pons, C., Melms, A., Tzartos, S., Willcox, N., Kostera-Pruszczyk, A., Tallaksen, C., Mantegazza, R., Berrih-Aknin, S., Miller, A. :
VAV1 and BAFF, via NFkappaB pathway, are genetic risk factors for myasthenia gravis Ann Clin Transl Neurol, 2014 ; 1 (5) : 329-39