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
Publications (1184)
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
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) :
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
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
Malfatti, E., Romero, N. B. :
Diseases of the skeletal muscle Handb Clin Neurol, 2017 ; 145 : 429-451
Diseases of the skeletal muscle Handb Clin Neurol, 2017 ; 145 : 429-451
