Publications (1097)

Flores Alves Dos Santos, J., Tezenas du Montcel, S., Gargiulo, M., Behar, C., Montel, S., Hergueta, T., Navarro, S., Belaid, H., Cloitre, P., Karachi, C., Mallet, L., Welter, M. L. :
Tackling psychosocial maladjustment in Parkinson’s disease patients following subthalamic deep-brain stimulation: A randomised clinical trial PLoS ONE, 2017 ; 12 (4) : e0174512
Dragin, N., Le Panse, R., Berrih-Aknin, S. :
Predisposition aux pathologies auto-immmunes – Les hommes ne manquent pas << d'Aire >> Med Sci (Paris), 2017 ; 33 (2) : 169-175
van Agtmaal, E. L., Andre, L. M., Willemse, M., Cumming, S. A., van Kessel, I. D., van den Broek, W. J., Gourdon, G., Furling, D., Mouly, V., Monckton, D. G., Wansink, D. G., Wieringa, B. :
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
Gargiulo, M., Tezenas du Montcel, S., Jutras, M. F., Herson, A., Cazeneuve, C., Durr, A. :
A liminal stage after predictive testing for Huntington disease J Med Genet, 2017 ; (SP) :
Guimaraes-Costa, R., Iancu Ferfoglia, R., Leonard-Louis, S., Ziegler, F., Magy, L., Fournier, E., Dubourg, O., Bouche, P., Maisonobe, T., Lacour, A., Moerman, A., Latour, P., Stojkovic, T. :
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients Eur J Neurol, 2017 ; 24 (3) : 530-538
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) :
Cerino, M., Gorokhova, S., Laforet, P., Ben Yaou, R., Salort-Campana, E., Pouget, J., Attarian, S., Eymard, B., Deleuze, J. F., Boland, A., Behin, A., Stojkovic, T., Bonne, G., Levy, N., Bartoli, M., Krahn, M. :
Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing Muscle Nerve, 2017 ; (SP) :
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 ; (SP) :
Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., Marini-Bettolo, C., Choquet, K., Dicaire, M. J., Shao, Y. H., Topf, A., O'Ferrall, E., Eymard, B., Straub, V., Blanco, G., Lochmuller, H., Brais, B., Laporte, J., Tetreault, M. :
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion Brain, 2017 ; 140 (Pt 1) : 37-48
Anghelescu, C., Francou, B., Cardas, R., Guiochon-Mantel, A., Aubourg, P., Servais, L., Gidaro, T. :
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype Eur J Neurol, 2017 ; 24 (3) : e15-e16