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) :
Publications (1184)
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
Brockhoff, M., Rion, N., Chojnowska, K., Wiktorowicz, T., Eickhorst, C., Erne, B., Frank, S., Angelini, C., Furling, D., Ruegg, M. A., Sinnreich, M., Castets, P. :
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I J Clin Invest, 2017 ; 127 (2) : 549-563
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I J Clin Invest, 2017 ; 127 (2) : 549-563
Allamand, V. :
Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
Lopomo, A., Berrih-Aknin, S. :
Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169
Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169
Schoser, B., Eymard, B., Datt, J., Mantegazza, R. :
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer + ERRATUM J Neurol, 2017 ; (SP) :
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer + ERRATUM J Neurol, 2017 ; (SP) :
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 ; 81 (3) : 467-473
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods Ann Neurol, 2017 ; 81 (3) : 467-473
Mercier, S., Lornage, X., Malfatti, E., Marcorelles, P., Letournel, F., Boscher, C., Caillaux, G., Magot, A., Bohm, J., Boland, A., Deleuze, J. F., Romero, N., Pereon, Y., Laporte, J. :
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; 88 (4) : 414-416
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A Neurology, 2017 ; 88 (4) : 414-416
