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
Publications (1184)
Hervier, B., Benveniste, O. :
Phénotypes cliniques et pronostic du syndrome des antisynthétases Rev Med Interne, 2014 ; 35 (7) : 453-460
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
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
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
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
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
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
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
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
Long-term safety and efficacy of factor IX gene therapy in hemophilia B N Engl J Med, 2014 ; 371 (21) : 1994-2004
