Abnormal Neurological Development; Early Diagnosis and Intervention (ANDDI)

Organisational unit: Research programme

  1. 2017
  2. Jinnah, H. A., Albanese, A., Bhatia, K. P., Cardoso, F., Da Prat, G., de Koning, T. J., ... International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders (2017). Treatable inherited rare movement disorders. Movement Disorders. DOI: 10.1002/mds.27140
  3. van de Zande, N. A., Massey, T. H., McLauchlan, D., Pryce Roberts, A., Zutt, R., Wardle, M., ... Peall, K. J. (2017). Clinical characterization of dystonia in adult patients with Huntington's disease. European Journal of Neurology, 24(9), 1140-1147. DOI: 10.1111/ene.13349
  4. Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., ... Vanderver, A. (2017). X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics. DOI: 10.1007/s10048-017-0520-x
  5. Nijmeijer, S. W. R., de Bruijn, E., Verhagen, R., Forbes, P. A., Kamphuis, D. J., Happee, R., ... Koelman, J. H. T. M. (2017). Spectral EMG Changes in Cervical Dystonia Patients and the Influence of Botulinum Toxin Treatment. Toxins, 9(9). DOI: 10.3390/toxins9090256
  6. van Ewijk, H., Bralten, J., van Duin, E. D. A., Hakobjan, M., Buitelaar, J. K., Heslenfeld, D. J., ... Franke, B. (2017). Female-specific association of NOS1 genotype with white matter microstructure in ADHD patients and controls. Journal of Child Psychology and Psychiatry, 58(8), 958-966. DOI: 10.1111/jcpp.12742
  7. Wolf, H., Arabin, B., Lees, C. C., Oepkes, D., Prefumo, F., Thilaganathan, B., ... TRUFFLE Grp (2017). Longitudinal study of computerized cardiotocography in early fetal growth restriction. Ultrasound in Obstetrics & Gynecology, 50(1), 71-78. DOI: 10.1002/uog.17215
  8. de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., ... Brilstra, E. H. (2017). Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics, 18(3), 147-153. DOI: 10.1007/s10048-017-0517-5
  9. van Schendel, R. V., Page-Christiaens, G. C. M. L., Beulen, L., Bilardo, C. M., de Boer, M. A., Coumans, A. B. C., ... Dutch NIPT Consortium (2017). Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results. Journal of genetic counseling. DOI: 10.1007/s10897-017-0118-3
  10. van der Salm, S. M. A., Cath, D. C., van Rootselaar, A-F., Koelman, J. H. T. M., de Haan, R. J., Tijssen, M. A. J., & Meynen, G. (2017). Clinician and patient perceptions of free will in movement disorders: Mind the gap. Journal of Neurology, Neurosurgery and Psychiatry, 88(6), 532-533. DOI: 10.1136/jnnp-2016-315152
  11. Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., ... Zuffardi, O. (2017). Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics, 25(6), 694-701. DOI: 10.1038/ejhg.2017.49
  12. McAllister, J. P., Guerra, M. M., Ruiz, L. C., Jimenez, A. J., Dominguez-Pinos, D., Sival, D., ... Limbrick, D. D. (2017). Ventricular Zone Disruption in Human Neonates With Intraventricular Hemorrhage. Journal of neuropathology and experimental neurology, 76(5), 358-375. DOI: 10.1093/jnen/nlx017
  13. Johansson, L. F., de Boer, E. N., de Weerd, H. A., van Dijk, F., Elferink, M. G., Schuring-Blom, G. H., ... Sikkema-Raddatz, B. (2017). Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing. Scientific Reports, 7(1), [1838]. DOI: 10.1038/s41598-017-02031-5
  14. de Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., ... Voorhoeve, E. (2017). Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands. Journal of Intellectual Disability Research, 61(5), 461-470. DOI: 10.1111/jir.12371
  15. Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, H. J. H., Bisschop, P. H., Vaz, F. M., ... Bosch, A. M. (2017). Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. Annals of nutrition and metabolism, 70(2), 111-121. DOI: 10.1159/000465529
  16. von Rhein, D., Beckmann, C. F., Franke, B., Oosterlaan, J., Heslenfeld, D. J., Hoekstra, P. J., ... Mennes, M. (2017). Network-Level Assessment of Reward-Related Activation in Patients with ADHD and Healthy Individuals. Human brain mapping, 38(5), 2359-2369. DOI: 10.1002/hbm.23522
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