Echaniz-Laguna, A., Geuens, T., Petiot, P., Pereon, Y., Adriaenssens, E., Haidar, M., Capponi, S., Maisonobe, T., Fournier, E., Dubourg, O., Degos, B., Salachas, F., Lenglet, T., Eymard, B., Delmont, E., Pouget, J., Morales, R., Goizet, C., Latour, P., Timmerman, V., Stojkovic, T. :
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations
Hum Mutat, 2017 ; 38 (5) : 556-568
Publications (1181)
Fayssoil, A., Behin, A., Ogna, A., Mompoint, D., Amthor, H., Clair, B., Laforet, P., Mansart, A., Prigent, H., Orlikowski, D., Stojkovic, T., Vinit, S., Carlier, R., Eymard, B., Lofaso, F., Annane, D. :
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders J Neuromuscul Dis, 2017 ; (SP) :
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders J Neuromuscul Dis, 2017 ; (SP) :
Possidonio, A. C., Soares, C. P., Fontenelle, M., Morris, E. R., Mouly, V., Costa, M. L., Mermelstein, C. :
Knockdown of Lmo7 inhibits chick myogenesis FEBS Lett, 2016 ; 590 (3) : 317-29
Knockdown of Lmo7 inhibits chick myogenesis FEBS Lett, 2016 ; 590 (3) : 317-29
Fayssoil, A., Lazarus, A., Wahbi, K., Ogna, A., Nardi, O., Lofaso, F., Clair, B., Orlikowski, D., Annane, D. :
Cardiac implantable electronic devices in tracheotomized muscular dystrophy patients: Safety and risks Int J Cardiol, 2016 ; 222 : 975-977
Cardiac implantable electronic devices in tracheotomized muscular dystrophy patients: Safety and risks Int J Cardiol, 2016 ; 222 : 975-977
Cruz, S., Figueroa-Bonaparte, S., Gallardo, E., de Becdelievre, A., Gartioux, C., Allamand, V., Pinol, P., Garcia, M. A., Jimenez-Mallebriera, C., Llauger, J., Gonzalez-Rodriguez, L., Cortes-Vicente, E., Illa, I., Diaz-Manera, J. :
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum J Neuromuscul Dis, 2016 ; 3 (2) : 267-274
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum J Neuromuscul Dis, 2016 ; 3 (2) : 267-274
Seferian, A. M., Malfatti, E., Bosson, C., Pelletier, L., Taytard, J., Forin, V., Gidaro, T., Gargaun, E., Carlier, P., Faure, J., Romero, N. B., Rendu, J., Servais, L. :
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Neuromuscul Disord, 2016 ; 26 (10) : 712-716
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Neuromuscul Disord, 2016 ; 26 (10) : 712-716
Fayssoil, A., Ogna, A., Chaffaut, C., Chevret, S., Guimaraes-Costa, R., Leturcq, F., Wahbi, K., Prigent, H., Lofaso, F., Nardi, O., Clair, B., Behin, A., Stojkovic, T., Laforet, P., Orlikowski, D., Annane, D. :
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D PLoS ONE, 2016 ; 11 (4) : e0153095
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D PLoS ONE, 2016 ; 11 (4) : e0153095
Oestergaard, S. T., Stojkovic, T., Dahlqvist, J. R., Bouchet-Seraphin, C., Nectoux, J., Leturcq, F., Cossee, M., Sole, G., Thomsen, C., Krag, T. O., Vissing, J. :
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Neurol Genet, 2016 ; 2 (6) : e112
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Neurol Genet, 2016 ; 2 (6) : e112
Lacour, F, Vezin, E, Bentzinger, F, Sincennes, M C, Rudnicki, M A, Mitchell, R D, Patel, K, Chaboissier, M C, Chassot, A A, Le Grand, F :
R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669
R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669
Habbout, K., Poulin, H., Rivier, F., Giuliano, S., Sternberg, D., Fontaine, B., Eymard, B., Morales, R. J., Echenne, B., King, L., Hanna, M. G., Mannikko, R., Chahine, M., Nicole, S., Bendahhou, S. :
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Neurology, 2016 ; 86 (2) : 161-9
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Neurology, 2016 ; 86 (2) : 161-9
