Publications (1181)

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
Attarian, S., Vallat, J. M., Magy, L., Funalot, B., Gonnaud, P. M., Lacour, A., Pereon, Y., Dubourg, O., Pouget, J., Micallef, J., Franques, J., Lefebvre, M. N., Ghorab, K., Al-Moussawi, M., Tiffreau, V., Preudhomme, M., Magot, A., Leclair-Visonneau, L., Stojkovic, T., Bossi, L., Lehert, P., Gilbert, W., Bertrand, V., Mandel, J., Milet, A., Hajj, R., Boudiaf, L., Scart-Gres, C., Nabirotchkin, S., Guedj, M., Chumakov, I., Cohen, D. :
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A Orphanet J Rare Dis, 2014 ; 9 (1) : 199
Colomban, C., Micallef, J., Lefebvre, M. N., Dubourg, O., Gonnaud, P. M., Stojkovic, T., Jouve, E., Blin, O., Pouget, J., Attarian, S. :
Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients J Neurol Sci, 2014 ; 336 (1-2) : 155-60
Hervier, B., Benveniste, O. :
Phénotypes cliniques et pronostic du syndrome des antisynthétases Rev Med Interne, 2014 ; 35 (7) : 453-460
Quijano-Roy, S., Khirani, S., Colella, M., Ramirez, A., Aloui, S., Wehbi, S., de Becdelievre, A., Carlier, R. Y., Allamand, V., Richard, P., Azzi, V., Estournet, B., Fauroux, B. :
Diaphragmatic dysfunction in Collagen VI myopathies Neuromuscul Disord, 2014 ; 24 (2) : 125-33
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