Urtizberea, J. A., Behin, A. :
Myopathie GNE
Med Sci (Paris), 2015 ; 31 Spec No 3 : 20-7
Publications (1184)
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
Hervier, B., Benveniste, O. :
Le rituximab au cours des myopathies inflammatoires : << une revolution neolithique >> Rev Med Interne, 2015 ; 36 (8) : 505-8
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
Therapy for dominant inherited diseases by Allele-Specific RNA Interference: Successes and Pitfalls Curr Gene Ther, 2015 ; 15 (5) : 503-10
Algalarrondo, V., Wahbi, K., Sebag, F., Gourdon, G., Beldjord, C., Azibi, K., Balse, E., Coulombe, A., Fischmeister, R., Eymard, B., Duboc, D., Hatem, S. N. :
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1 Neuromuscul Disord, 2015 ; 25 (4) : 308-320
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1 Neuromuscul Disord, 2015 ; 25 (4) : 308-320
Mauhin, W., Lidove, O., Masat, E., Mingozzi, F., Mariampillai, K., Ziza, J. M., Benveniste, O. :
Innate and Adaptive Immune Response in Fabry Disease JIMD Rep, 2015 ; 22 : 1-10
Innate and Adaptive Immune Response in Fabry Disease JIMD Rep, 2015 ; 22 : 1-10
Heslop, E., Csimma, C., Straub, V., McCall, J., Nagaraju, K., Wagner, K. R., Caizergues, D., Korinthenberg, R., Flanigan, K. M., Kaufmann, P., McNeil, E., Mendell, J., Hesterlee, S., Wells, D. J., Bushby, K., Laforet, P. :
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development Orphanet J Rare Dis, 2015 ; 10 : 49
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development Orphanet J Rare Dis, 2015 ; 10 : 49
Casar-Borota, O., Jacobsson, J., Libelius, R., Oldfors, C. H., Malfatti, E., Romero, N. B., Oldfors, A. :
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres Neuromuscul Disord, 2015 ; 25 (4) : 345-348
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres Neuromuscul Disord, 2015 ; 25 (4) : 345-348
Portilho, D. M., Alves, M. R., Kratassiouk, G., Roche, S., Magdinier, F., de Santana, E. C., Polesskaya, A., Harel-Bellan, A., Mouly, V., Savino, W., Butler-Browne, G., Dumonceaux, J. :
miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies PLoS ONE, 2015 ; 10 (2) : e0116853
miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies PLoS ONE, 2015 ; 10 (2) : e0116853
