Le Dour, C., Macquart, C., Sera, F., Homma, S., Bonne, G., Morrow, J. P., Worman, H. J., Muchir, A. :
Decreased WNT/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene
Hum Mol Genet, 2017 ; 26 (2) : 333-343
Publications (1184)
Robinet, M., Villeret, B., Maillard, S., Cron, M. A., Berrih-Aknin, S., Le Panse, R. :
Use of Toll-Like Receptor Agonists to Induce Ectopic Lymphoid Structures in Myasthenia Gravis Mouse Models Front Immunol, 2017 ; 8 : 1029
Use of Toll-Like Receptor Agonists to Induce Ectopic Lymphoid Structures in Myasthenia Gravis Mouse Models Front Immunol, 2017 ; 8 : 1029
Uruha, A., Benveniste, O. :
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance Curr Opin Neurol, 2017 ; (SP) :
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance Curr Opin Neurol, 2017 ; (SP) :
Flores Alves Dos Santos, J., Tezenas du Montcel, S., Gargiulo, M., Behar, C., Montel, S., Hergueta, T., Navarro, S., Belaid, H., Cloitre, P., Karachi, C., Mallet, L., Welter, M. L. :
Tackling psychosocial maladjustment in Parkinson’s disease patients following subthalamic deep-brain stimulation: A randomised clinical trial PLoS ONE, 2017 ; 12 (4) : e0174512
Tackling psychosocial maladjustment in Parkinson’s disease patients following subthalamic deep-brain stimulation: A randomised clinical trial PLoS ONE, 2017 ; 12 (4) : e0174512
Anghelescu, C., Francou, B., Cardas, R., Guiochon-Mantel, A., Aubourg, P., Servais, L., Gidaro, T. :
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype Eur J Neurol, 2017 ; 24 (3) : e15-e16
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype Eur J Neurol, 2017 ; 24 (3) : e15-e16
Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N. B., Genazzani, A., Bertini, E., Antonini, G. :
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis Clin Genet, 2017 ; 91 (5) : 780-786
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis Clin Genet, 2017 ; 91 (5) : 780-786
Stojkovic, T., Chanut, A., Laforet, P., Madelaine, A., Petit, F., Romero, N. B., Malfatti, E. :
Severe asymmetric muscle weakness revealing Glycogenin-1 polyglucosan body myopathy Muscle Nerve, 2017 ; (SP) :
Severe asymmetric muscle weakness revealing Glycogenin-1 polyglucosan body myopathy Muscle Nerve, 2017 ; (SP) :
Echigoya, Y., Lim, K. R. Q., Trieu, N., Bao, B., Miskew Nichols, B., Vila, M. C., Novak, J. S., Hara, Y., Lee, J., Touznik, A., Mamchaoui, K., Aoki, Y., Takeda, S., Nagaraju, K., Mouly, V., Maruyama, R., Duddy, W., Yokota, T. :
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy Mol Ther, 2017 ; (SP) :
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy Mol Ther, 2017 ; (SP) :
Preisler, N., Laforet, P., Madsen, K. L., Husu, E., Vissing, C., Hedermann, G., Galbo, H., Lindberg, C., Vissing, J. :
Skeletal muscle metabolism during prolonged exercise in Pompe disease Endocr Connect, 2017 ; 6 (6) : 384-394
Skeletal muscle metabolism during prolonged exercise in Pompe disease Endocr Connect, 2017 ; 6 (6) : 384-394
Delstanche, S., Servais, L., Gidaro, T. :
Improved Muscular Weakness During Asthma Exacerbation JAMA Neurol, 2017 ; 74 (3) : 353-354
Improved Muscular Weakness During Asthma Exacerbation JAMA Neurol, 2017 ; 74 (3) : 353-354
