Abnormal Neurological Development; Early Diagnosis and Intervention (ANDDI)

University of Groningen > Faculty of Medical Sciences > Research Institute for Neurosciences and Healthy Ageing (BCN-BRAIN) > Abnormal Neurological Development; Early Diagnosis and Intervention (ANDDI)

  1. 2018
  2. 2017
  3. Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., ... Waterham, H. R. (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. American Journal of Human Genetics, 101(6), 965-976. DOI: 10.1016/j.ajhg.2017.11.007
  4. Groen, Y., Althaus, M., Oosterhoff, M., van Balkom, I., & Hoekstra, P. J. (2017). The effects of oxytocine in autism: De werking van oxytocine bij autisme. Poster session presented at Symposium on Interpersonal Dynamics, Zwolle, Netherlands.
  5. van Rootselaar, A-F., Groffen, A. J., de Vries, B., Callenbach, P. M. C., Santen, G. W. E., Koelewijn, S., ... van den Maagdenberg, A. M. J. M. (2017). δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. NEUROLOGY, 89(23), 2341-2350. DOI: 10.1212/WNL.0000000000004709
  6. Wortmann, S. B., Timal, S., Venselaar, H., Wintjes, L. T., Kopajtich, R., Feichtinger, R. G., ... Rodenburg, R. J. (2017). Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Human Mutation, 38(12), 1786-1795. DOI: 10.1002/humu.23340
  7. Marchi, L., Gaini, C., Franchi, C., Mecacci, F., Bilardo, C., & Pasquini, L. (2017). Intraobserver and interobserver reproducibility of third trimester uterine artery pulsatility index. Prenatal Diagnosis, 37(12), 1198-1202. DOI: 10.1002/pd.5163
  8. 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, 26(6), 1348-1356. DOI: 10.1007/s10897-017-0118-3
  9. 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, 18(4), 185-194. DOI: 10.1007/s10048-017-0520-x
  10. Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., ... Verbeek, D. S. (2017). Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain, 140(11), 2860-2878. DOI: 10.1093/brain/awx251
  11. Noordermeer, S. D. S., Luman, M., Greven, C. U., Veroude, K., Faraone, S. V., Hartman, C. A., ... Oosterlaan, J. (2017). Structural Brain Abnormalities of Attention-Deficit/Hyperactivity Disorder With Oppositional Defiant Disorder. Biological Psychiatry, 82(9), 642-650. DOI: 10.1016/j.biopsych.2017.07.008
  12. Tamás, G., Abrantes, C., Valadas, A., Radics, P., Albanese, A., Tijssen, M. A. J., & Ferreira, J. J. (2017). Quality and reporting of guidelines on the diagnosis and management of dystonia. European Journal of Neurology. DOI: 10.1111/ene.13488
  13. Stankiewicz, P., Khan, T. N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., ... Deciphering Developmental Disorders Study (2017). Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American Journal of Human Genetics, 101(4), 503-515. DOI: 10.1016/j.ajhg.2017.08.014
  14. De Bruijn, E., Nijmeijer, S. W. R., Forbes, P. A., Koelman, J. H. T. M., Van Der Helm, F. C. T., Tijssen, M. A. J., & Happee, R. (2017). Dystonic neck muscles show a shift in relative autospectral power during isometric contractions. Clinical Neurophysiology, 128(10), 1937-1945. DOI: 10.1016/j.clinph.2017.06.258
  15. Guadalupe, T., Mathias, S. R., Vanerp, T. G. M., Whelan, C. D., Zwiers, M. P., Abe, Y., ... Francks, C. (2017). Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex. Brain Imaging and Behavior, 11(5), 1497-1514. DOI: 10.1007/s11682-016-9629-z
  16. 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
  17. 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
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