Harris, E., Bladen, C. L., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F. E., Rufibach, L., Cnaan, A., Bharucha-Goebel, D. X., Blamire, A. M., Bravver, E., Carlier, P. G., Day, J. W., Diaz-Manera, J., Eagle, M., Grieben, U., Harms, M., Jones, K. J., Lochmuller, H., Mendell, J. R., Mori-Yoshimura, M., Paradas, C., Pegoraro, E., Pestronk, A., Salort-Campana, E., Schreiber-Katz, O., Semplicini, C., Spuler, S., Stojkovic, T., Straub, V., Takeda, S., Rocha, C. T., Walter, M. C., Bushby, K., Jain, C. O. S. Consortium :
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Neurol Genet, 2016 ; 2 (4) : e89
Publications (1184)
Chatzifrangkeskou, M., Le Dour, C., Wu, W., Morrow, J. P., Joseph, L. C., Beuvin, M., Sera, F., Homma, S., Vignier, N., Mougenot, N., Bonne, G., Lipson, K. E., Worman, H. J., Muchir, A. :
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene Hum Mol Genet, 2016 ; 25 (11) : 2220-33
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene Hum Mol Genet, 2016 ; 25 (11) : 2220-33
Preusse, C., Allenbach, Y., Hoffmann, O., Goebel, H. H., Pehl, D., Radke, J., Doeser, A., Schneider, U., Alten, R. H., Kallinich, T., Benveniste, O., von Moers, A., Schoser, B., Schara, U., Stenzel, W. :
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis Acta Neuropathol Commun, 2016 ; 4 (1) : 45
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis Acta Neuropathol Commun, 2016 ; 4 (1) : 45
Eymard, B., Camdessanche, J. P. :
Foreword Rev Neurol (Paris), 2016 ; 172 (10) : 537-538
Foreword Rev Neurol (Paris), 2016 ; 172 (10) : 537-538
Beyer, S., Pontis, J., Schirwis, E., Battisti, V., Rudolf, A., Le Grand, F., Ait-Si-Ali, S. :
Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037
Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037
Stergiou, C., Lazaridis, K., Zouvelou, V., Tzartos, J., 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., Gilhus, N. E., Casasnovas Pons, C., Pitha, J., Jakubikova, M., Hanisch, F., Bogomolovas, J., Labeit, D., Labeit, S., Tzartos, S. J. :
Titin antibodies in “seronegative” myasthenia gravis – A new role for an old antigen J Neuroimmunol, 2016 ; 292 : 108-15
Titin antibodies in “seronegative” myasthenia gravis – A new role for an old antigen J Neuroimmunol, 2016 ; 292 : 108-15
Alameddine, H. S., Morgan, J. E. :
Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles J Neuromuscul Dis, 2016 ; 3 (4) : 455-473
Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles J Neuromuscul Dis, 2016 ; 3 (4) : 455-473
Ziat, E., Mamchaoui, K., Beuvin, M., Nelson, I., Azibani, F., Spuler, S., Bonne, G., Bertrand, A. T. :
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy J Neuromuscul Dis, 2016 ; 3 (4) : 497-510
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy J Neuromuscul Dis, 2016 ; 3 (4) : 497-510
Crudele, J. M., Finn, J. D., Siner, J. I., Martin, N. B., Niemeyer, G. P., Zhou, S., Mingozzi, F., Lothrop, C. D., Jr., Arruda, V. R. :
AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561
AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561
Rau, F, Lainé, J, Ramanoudjame, L, Ferry, A, Arandel, L, Delalande, O, Jollet, A, Dingli, F, Lee, K Y, Peccate, C, Lorain, S, Kabashi, E, Athansopoulos, T, Koo, T, Loew, D, Swanson, M, Le Rumeur, E, Dickson, G, Allamand, V, Marie, J, Furling, D :
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205
