Bouchereau, J., Barrot, S. V., Dupre, T., Moore, S. E., Cardas, R., Capri, Y., Gaignard, P., Slama, A., Delanoe, C., de Baulny, H. O., Seta, N., Schiff, M., Servais, L. :
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants
JIMD Rep, 2016 ; :
Publications (1184)
Richard, I., Laurent, J. P., Cirak, S., Vissing, J., Brown, S, Campbell, K, Cirak, S, Gicquel, E, Hogrel, J Y, Honnet, G, Koelma, N, Laurent, J P, Mathews, K, Muntoni, F, Quijano-Roy, S, Richard, I, Robertson, A, Stevenson, H, Stojkovic, T, Straub, V, Topaloglu, H, Vajsar, J, Vissing, J, Walter, M :
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands Neuromuscul Disord, 2016 ; 26 (10) : 717-724
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands Neuromuscul Disord, 2016 ; 26 (10) : 717-724
Maggio, I., Stefanucci, L., Janssen, J. M., Liu, J., Chen, X., Mouly, V., Goncalves, M. A. :
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations Nucleic Acids Res, 2016 ; 44 (3) : 1449-70
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations Nucleic Acids Res, 2016 ; 44 (3) : 1449-70
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
The Clinical Outcome Study for dysferlinopathy: An international multicenter study Neurol Genet, 2016 ; 2 (4) : e89
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
