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
Publications (1181)
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
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, Jakubíkova, 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
MuSK autoantibodies in myasthenia gravis detected by cell based assay – a multinational study J Neuroimmunol, 2015 ; 284 : 10-17
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
VAV1 and BAFF, via NFkappaB pathway, are genetic risk factors for myasthenia gravis Ann Clin Transl Neurol, 2014 ; 1 (5) : 329-39
Couvrat-Desvergnes, G., Masseau, A., Benveniste, O., Bruel, A., Hervier, B., Mussini, J. M., Buob, D., Hachulla, E., Remy, P., Azar, R., Namara, E. M., MacGregor, B., Daniel, L., Lacraz, A., De Broucker, T., Rouvier, P., Carli, P., Laville, M., Dantan, E., Hamidou, M., Moreau, A., Fakhouri, F. :
The spectrum of renal involvement in patients with inflammatory myopathies Medicine (Baltimore), 2014 ; 93 (1) : 33-41
The spectrum of renal involvement in patients with inflammatory myopathies Medicine (Baltimore), 2014 ; 93 (1) : 33-41
Hogrel, J. Y., Allenbach, Y., Canal, A., Leroux, G., Ollivier, G., Mariampillai, K., Servais, L., Herson, S., Decostre, V., Benveniste, O. :
Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: Implications for therapeutic trials Neuromuscul Disord, 2014 ; 24 (7) : 604-610
Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: Implications for therapeutic trials Neuromuscul Disord, 2014 ; 24 (7) : 604-610
Quijano-Roy, S., Rivier, F, Romero, N. B. :
Myopathies congénitales Lettre du Neurologue, 2014 ; 18 (7) : 263-266
Myopathies congénitales Lettre du Neurologue, 2014 ; 18 (7) : 263-266
Berrih-Aknin, S. :
Cortactin: A new target in autoimmune myositis and Myasthenia Gravis Autoimmun Rev, 2014 ; 13 (10) : 1001-2
Cortactin: A new target in autoimmune myositis and Myasthenia Gravis Autoimmun Rev, 2014 ; 13 (10) : 1001-2
Echaniz-Laguna, A., Dubourg, O., Carlier, P., Carlier, R. Y., Sabouraud, P., Pereon, Y., Chapon, F., Thauvin-Robinet, C., Laforet, P., Eymard, B., Latour, P., Stojkovic, T. :
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy Neurology, 2014 ; 82 (21) : 1919-26
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy Neurology, 2014 ; 82 (21) : 1919-26
Leshansky, L., Aberdam, D., Itskovitz-Eldor, J., Berrih-Aknin, S. :
Human Embryonic Stem Cells Prevent T-Cells Activation by Suppressing Dendritic Cells Function Via TGF-Beta Signaling Pathway Stem Cells, 2014 ; 32 (12) : 3137-49
Human Embryonic Stem Cells Prevent T-Cells Activation by Suppressing Dendritic Cells Function Via TGF-Beta Signaling Pathway Stem Cells, 2014 ; 32 (12) : 3137-49
