Articles dans des revues avec comité de lecture (79)
  1. 20. Johnson, K., Bertoli, M., Phillips, L., Töpf, A., Van Den Bergh, P., Vissing, J., Witting, N., Nafissi, S., Jamal-Omidi, S., Łusakowska, A., Kostera-Pruszczyk, A., Potulska-Chromik, A., Deconinck, N., Wallgren-Pettersson, C., Strang-Karlsson, S., Colomer, J., Claeys, K. G., De Ridder, W., Baets, J., von der Hagen, M., Fernández-Torrón, R., Zulaica Ijurco, M., Espinal Valencia, J. B., Hahn, A., Durmus, H., Willis, T., Xu, L., Valkanas, E., Mullen, T. T., Lek, M., MacArthur, D. D., & Straub, V. (2018). Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal Muscle, 8(1), 23. doi:10.1186/s13395-018-0170-1
  2. 21. Oates, E. E., Coppens, S., & Deconinck, N. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Annals of neurology, 83(6), 1105-1124. doi:10.1002/ana.25241
  3. 22. Paternoster, L., Baijot, S., Deliens, G., Goemans, N., Servais, L., & Deconinck, N. (2018). Cognitive assessment in spinal muscular atrophy type 1-2 using eye tracking system. Neuromuscular disorders, 28(2), 55-56.
  4. 23. Baijot, S., Cevallos Barragan, C., Zarka, D., Leroy, A., Slama, H., Colin, C., Deconinck, N., Danna, B., & Chéron, G. (2017). EEG Dynamics of a Go/Nogo Task in Children with ADHD. Brain sciences, 7(12), 167-182. doi:10.3390/brainsci7120167
  5. 24. Victor, R. G., Sweeney, L. H., Finkel, R. R., Deconinck, N., Byrne, B., Eagle, M., Goemans, N., Vandenborne, K., Dubrovsky, A. A., Topaloglu, H., Miceli, C. M., Furlong, P., Landry, J., Elashoff, R., Cox, D. A., & Tadalafil DMD Study Group, (2017). A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology, 89(17), 1811-1820. doi:10.1212/WNL.0000000000004570
  6. 25. Soblet, J., Dimov, I., Graf von Kalckreuth, C., Cano-Chervel, J., Baijot, S., Pelc, K., Sottiaux, M., Vilain, C., Smits, G., & Deconinck, N. (2017). BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. American journal of medical genetics. Part A, 176(1), 201-208. doi:10.1002/ajmg.a.38479
  7. 26. Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., & Smits, G. (2017). Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome medicine, 9(1), 67. doi:10.1186/s13073-017-0452-y
  8. 27. Bertini, E., Dessaud, E., Mercuri, E., Muntoni, F., Kirschner, J., Reid, C., Lusakowska, A., Deconinck, N., Cuisset, J. M., Abitbol, J.-L., Scherrer, B., Ducray, P. S., Buchbjerg, J., Vianna, E., van der Pol, L. W., Vuillerot, C., Blaettler, T., Fontoura, P., & Olesoxime SMA Phase 2 Study Investigators, (2017). Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet neurology, 16(7), 513-522. doi:10.1016/S1474-4422(17)30085-6
  9. 28. Deconinck, N., Dewulf, L., & Aeby, A. (2017). Prematurity and neurodevelopmental outcome: what do we know ? Prématurité et devenir neurologique. Journal du Pédiatre Belge, 19(2), 37-40.
  10. 29. Palmigiano, A., Jaeken, J., Sturiale, L., Bua, R. O., Barone, R., Rymen, D., Régal, L., Deconinck, N., Dionisi-Vici, C., Fung, C.-W., & Garozzo, D. (2017). MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG. Journal of mass spectrometry, 52(6), 372-377. doi:10.1002/jms.3936
  11. 30. Wolff, M., Deconinck, N., et al. (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140(5), 1316-1336. doi:10.1093/brain/awx054
  12. 31. Verhelst, H., De Waele, L., Deconinck, N., Ceulemans, B., Willekens, B., & Van Coster, R. (2017). Multiple sclerosis in Belgian children: A multicentre retrospective study. European journal of paediatric neurology, 21(2), 358-366. doi:10.1016/j.ejpn.2016.10.005
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