Publications (1097)

Bohm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S. G., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J. F., Romero, N., Newman, W. G., Demaurex, N., Laporte, J. :
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Hum Mutat, 2017 ; 38 (4) : 426-438
Guiraud, S., Migeon, T., Ferry, A., Chen, Z., Ouchelouche, S., Verpont, M. C., Sado, Y., Allamand, V., Ronco, P., Plaisier, E. :
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect Am J Pathol, 2017 ; (SP) :
Delstanche, S., Servais, L., Gidaro, T. :
Improved Muscular Weakness During Asthma Exacerbation JAMA Neurol, 2017 ; 74 (3) : 353-354
Sudres, M., Maurer, M., Robinet, M., Bismuth, J., Truffault, F., Girard, D., Dragin, N., Attia, M., Fadel, E., Santelmo, N., Sicsic, C., Brenner, T., Berrih-Aknin, S. :
Preconditioned mesenchymal stem cells treat myasthenia gravis in a humanized preclinical model JCI Insight, 2017 ; 2 (7) : e89665
Matagne, V., Ehinger, Y., Saidi, L., Borges-Correia, A., Barkats, M., Bartoli, M., Villard, L., Roux, J. C. :
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Neurobiol Dis, 2017 ; 99 : 1-11
Lornage, X., Malfatti, E., Cheraud, C., Schneider, R., Biancalana, V., Cuisset, J. M., Garibaldi, M., Eymard, B., Fardeau, M., Boland, A., Deleuze, J. F., Thompson, J., Carlier, R. Y., Bohm, J., Romero, N. B., Laporte, J. :
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods Ann Neurol, 2017 ; (SP) :
Lacourpaille, L., Gross, R., Hug, F., Guevel, A., Pereon, Y., Magot, A., Hogrel, J. Y., Nordez, A. :
Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle contraction: A 12-month follow-up Neuromuscul Disord, 2017 ; 27 (3) : 214-220
Bruneel, A., Habarou, F., Stojkovic, T., Plouviez, G., Bougas, L., Guillemet, F., Brient, N., Henry, D., Dupre, T., Vuillaumier-Barrot, S., Seta, N. :
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation Clin Chim Acta, 2017 ; 470 : 70-74
Belhomme, N., Maamar, A., Le Gallou, T., Minot-Myhie, M. C., Larralde, A., Champtiaux, N., Benveniste, O., Leonard-Louis, S., Decaux, O., Lescoat, A., Le Tulzo, Y. :
Rare myopathy associated to MGUS, causing heart failure and responding to chemotherapy Ann Hematol, 2017 ; (SP) :
Semplicini, C., Ollagnon-Roman, E., Leonard-Louis, S., Piguet-Lacroix, G., Silvestre, M., Latour, P., Stojkovic, T. :
High intra-familiar clinical variability in MORC2 mutated CMT2 patients Brain, 2017 ; (SP) :