Allamand, V. :
Genetique
Med Sci (Paris), 2015 ; 31 Spec No 3 : 28-9
Publications (1181)
Cacheux, M., Blum, A., Sebastien, M., Wozny, A. S., Brocard, J., Mamchaoui, K., Mouly, V., Roux-Buisson, N., Rendu, J., Monnier, N., Krivosic, R., Allen, P., Lacour, A., Lunardi, J., Faure, J., Marty, I. :
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein J Neuromuscul Dis, 2015 ; 2 (4) : 421-432
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein J Neuromuscul Dis, 2015 ; 2 (4) : 421-432
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, JakubĂkova, 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
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
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
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
Gali Ramamoorthy, T., Laverny, G., Schlagowski, A. I., Zoll, J., Messaddeq, N., Bornert, J. M., Panza, S., Ferry, A., Geny, B., Metzger, D. :
The transcriptional coregulator PGC-1beta controls mitochondrial function and anti-oxidant defence in skeletal muscles Nat Commun, 2015 ; 6 : 10210
The transcriptional coregulator PGC-1beta controls mitochondrial function and anti-oxidant defence in skeletal muscles Nat Commun, 2015 ; 6 : 10210
