Publications (1181)

Pollanen, E., Kangas, R., Horttanainen, M., Niskala, P., Kaprio, J., Butler-Browne, G., Mouly, V., Sipila, S., Kovanen, V. :
Intramuscular sex steroid hormones are associated with skeletal muscle strength and power in women with different hormonal status Aging Cell, 2015 ; 14 (2) : 236-248
Tanguy,Y, Biferi,M G, Besse,A, Astord,S, Cohen-Tannoudji,M, Marais,T, Barkats,M :
Systemic AArh10 provides higher transgene expression than AAV9, in the brain and the spinal cord of neonatal mice Frontiers in Molecular Neuroscience, 2015 ; 8 (article 36) :
Chamova, T., Guergueltcheva, V., Gospodinova, M., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H. H., Bahlo, M., Kalaydjieva, L., Tournev, I. :
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation Neuromuscul Disord, 2015 ; 25 (9) : 713-8
Allamand, V. :
Genetique Med Sci (Paris), 2015 ; 31 Spec No 3 : 28-9
Cacheux, M., Blum, A., Sebastien, M., Wozny, A. S., Brocard, J., Mamchaoui, K., Mouly, V., Roux-Buisson, N., Rendu, J., Monnier, N., Krivosic, R., Allen, P., Lacour, A., Lunardi, J., Faure, J., Marty, I. :
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein J Neuromuscul Dis, 2015 ; 2 (4) : 421-432
Goyenvalle, A., Griffith, G., Babbs, A., Andaloussi, S. E., Ezzat, K., Avril, A., Dugovic, B., Chaussenot, R., Ferry, A., Voit, T., Amthor, H., Buhr, C., Schurch, S., Wood, M. J., Davies, K. E., Vaillend, C., Leumann, C., Garcia, L. :
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers Nat Med, 2015 ; 21 (3) : 270-275
Tsonis, A I, Zisimopoulou, P, Lazaridis, K, Tzartos, J, Matsigkou, E, Zouvelou, V, Mantegazza, R, Antozzi, C, Andreetta, F, Evoli, A, Deymeer, F, Saruhan-Direskeneli, G, Durmus, H, Brenner, T, Vaknin, A, Berrih-Aknin, S, Behin, A, Sharshar, T, De Baets, M, Losen, M, Martinez-Martinez, P, Kleopa, K A, Zamba-Papanicolaou, E, Kyriakides, T, Kostera-Pruszczyk, A, Szczudlik, P, Szyluk, B, Lavrnic, D, Basta, I, Peric, S, Tallaksen, C, Maniaol, A, Casasnovas Pons, A, Pitha, J, JakubĂ­kova, M, Hanisch, F, Tzartos, S J :
MuSK autoantibodies in myasthenia gravis detected by cell based assay – a multinational study J Neuroimmunol, 2015 ; 284 : 10-17
Hervier, B., Benveniste, O. :
Le rituximab au cours des myopathies inflammatoires : << une revolution neolithique >> Rev Med Interne, 2015 ; 36 (8) : 505-8
Trochet, D, Prudhon, B, Vassilopoulos, S, Bitoun, M :
Therapy for dominant inherited diseases by Allele-Specific RNA Interference: Successes and Pitfalls Curr Gene Ther, 2015 ; 15 (5) : 503-10
Mercier, S., Kury, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N., Bou-Hanna, C., Breheret, F., Brunelle, P., Caillon, F., Chabrol, B., Cormier-Daire, V., David, A., Eymard, B., Faivre, L., Figarella-Branger, D., Fleurence, E., Ganapathi, M., Gherardi, R., Goldenberg, A., Hamel, A., Igual, J., Irvine, A. D., Israel-Biet, D., Kannengiesser, C., Laboisse, C., Le Caignec, C., Mahe, J. Y., Mallet, S., MacGowan, S., McAleer, M. A., McLean, I., Meni, C., Munnich, A., Mussini, J. M., Nagy, P. L., Odel, J., O'Regan, G. M., Pereon, Y., Perrier, J., Piard, J., Puzenat, E., Sampson, J. B., Smith, F., Soufir, N., Tanji, K., Thauvin, C., Ulane, C., Watson, R. M., Khumalo, N. P., Mayosi, B. M., Barbarot, S., Bezieau, S. :
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations Orphanet J Rare Dis, 2015 ; 10 : 135