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 (1181)
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) :
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. :
GĂ©nĂ©tique : IntĂ©rĂŞt du NGS dans un cas atypique de LGMD liĂ©e Ă l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
GĂ©nĂ©tique : IntĂ©rĂŞt du NGS dans un cas atypique de LGMD liĂ©e Ă 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
Hogrel, J. Y., Janssen, J. B., Ledoux, I., Ollivier, G., Behin, A., Stojkovic, T., Eymard, B., Voermans, N. C., Laforet, P. :
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test J Clin Pathol, 2017 ; (SP) :
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test J Clin Pathol, 2017 ; (SP) :
Rendu, J., Montjean, R., Coutton, C., Suri, M., Chicanne, G., Petiot, A., Brocard, J., Grunwald, D., Pietri Rouxel, F., Payrastre, B., Lunardi, J., Dorseuil, O., Marty, I., Faure, J. :
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome Hum Mutat, 2017 ; 38 (2) : 152-159
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome Hum Mutat, 2017 ; 38 (2) : 152-159
CA Araujo, E, Azzabou, N., Vignaud, A., Guillot, G., Carlier, P. G. :
Quantitative ultrashort TE imaging of the short-T2 components in skeletal muscle using an extended echo-subtraction method Magn Reson Med, 2017 ; 78 (3) : 997-1008
Quantitative ultrashort TE imaging of the short-T2 components in skeletal muscle using an extended echo-subtraction method Magn Reson Med, 2017 ; 78 (3) : 997-1008
