Urtizberea, J. A., Behin, A. :
Myopathie GNE
Med Sci (Paris), 2015 ; 31 Spec No 3 : 20-7
Publications (1184)
Carlier, P. G., Azzabou, N., de Sousa, P. L., Hicks, A., Boisserie, J. M., Amadon, A., Carlier, R. Y., Wary, C., Orlikowski, D., Laforet, P. :
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients J Inherit Metab Dis, 2015 ; 38 (3) : 565-572
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients J Inherit Metab Dis, 2015 ; 38 (3) : 565-572
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
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
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
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
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
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