Fernandez-Marmiesse, A., Carrascosa-Romero, M. C., Alfaro Ponce, B., Nascimento, A., Ortez, C., Romero, N., Palacios, L., Jimenez-Mallebrera, C., Jou, C., Gouveia, S., Couce, M. L. :
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Neuromuscul Disord, 2017 ; 27 (2) : 188-192
Publications (1184)
Heller, F., Dabaj, I., Mah, J. K., Bergounioux, J., Essid, A., Bonnemann, C. G., Rutkowski, A., Bonne, G., Quijano-Roy, S., Wahbi, K. :
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care Cardiol Young, 2017 ; 27 (6) : 1076-1082
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care Cardiol Young, 2017 ; 27 (6) : 1076-1082
Sayah, S., Rotge, J. Y., Francisque, H., Gargiulo, M., Czernecki, V., Justo, D., Lahlou-Laforet, K., Hahn, V., Pandolfo, M., Pelissolo, A., Fossati, P., Durr, A. :
Personality and Neuropsychological Profiles in Friedreich Ataxia Cerebellum, 2017 ; (SP) :
Personality and Neuropsychological Profiles in Friedreich Ataxia Cerebellum, 2017 ; (SP) :
Gauci, M. L., Laly, P., Sarah, L. L., Behin, A., Gottlieb, J., Madelaine-Chambrin, I., Baroudjian, B., Da-Meda, L., Mourah, S., Battistella, M., Basset Seguin, N., Bagot, M., Pages, C., Vercellino, L., Maisonobe, T., Lebbe, C. :
Focal necrotizing myopathy with ‘dropped-head syndrome’ induced by cobimetinib in metastatic melanoma Melanoma Res, 2017 ; (SP) :
Focal necrotizing myopathy with ‘dropped-head syndrome’ induced by cobimetinib in metastatic melanoma Melanoma Res, 2017 ; (SP) :
Bruneel, A., Habarou, F., Stojkovic, T., Plouviez, G., Bougas, L., Guillemet, F., Brient, N., Henry, D., Dupre, T., Vuillaumier-Barrot, S., Seta, N. :
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation Clin Chim Acta, 2017 ; 470 : 70-74
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation Clin Chim Acta, 2017 ; 470 : 70-74
Godfrey, C., Desviat, L. R., Smedsrod, B., Pietri-Rouxel, F., Denti, M. A., Disterer, P., Lorain, S., Nogales-Gadea, G., Sardone, V., Anwar, R., El Andaloussi, S., Lehto, T., Khoo, B., Brolin, C., van Roon-Mom, W. M., Goyenvalle, A., Aartsma-Rus, A., Arechavala-Gomeza, V. :
Delivery is key: lessons learnt from developing splice-switching antisense therapies EMBO Mol Med, 2017 ; 9 (5) : 545-557
Delivery is key: lessons learnt from developing splice-switching antisense therapies EMBO Mol Med, 2017 ; 9 (5) : 545-557
Birnbaum, S., Ghout, I., Demeret, S., Bolgert, F., Eymard, B., Sharshar, T., Portero, P., Hogrel, J. Y. :
Translation, cross-cultural adaptation, and validation of the French version of the Myasthenia Gravis Quality of Life Scale (MG-QOL 15) Muscle Nerve, 2017 ; 55 (5) : 639-645
Translation, cross-cultural adaptation, and validation of the French version of the Myasthenia Gravis Quality of Life Scale (MG-QOL 15) Muscle Nerve, 2017 ; 55 (5) : 639-645
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) :
Gallay, L., Streichenberger, N., Benveniste, O., Allenbach, Y. :
Myosite focale : une maladie méconnue Rev Med Interne, 2017 ; (SP) :
Myosite focale : une maladie méconnue Rev Med Interne, 2017 ; (SP) :
Stojkovic, T :
Myopathie de Bethlem : l’imagerie musculaire est la clé du diagnostic Cah. Myol., 2017 ; (15) : 13-16
Myopathie de Bethlem : l’imagerie musculaire est la clé du diagnostic Cah. Myol., 2017 ; (15) : 13-16
