Publications (1181)

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) :
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) :
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
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
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
Gallay, L., Streichenberger, N., Benveniste, O., Allenbach, Y. :
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
Barnouin, Y., McPhee, J. S., Butler-Browne, G., Bosutti, A., De Vito, G., Jones, D. A., Narici, M., Behin, A., Hogrel, J. Y., Degens, H. :
Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging J Cachexia Sarcopenia Muscle, 2017 ; 8 (4) : 647-659
Gribling-Burrer, A. S., Leichter, M., Wurth, L., Huttin, A., Schlotter, F., Troffer-Charlier, N., Cura, V., Barkats, M., Cavarelli, J., Massenet, S., Allmang, C. :
SECIS-binding protein 2 interacts with the SMN complex and the methylosome for selenoprotein mRNP assembly and translation Nucleic Acids Res, 2017 ; 45 (9) : 5399-5413
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