Research output per year
Research output per year
Search results
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2021
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype
van der Weijden, M. C. M., Rodriguez-Contreras, D., Delnooz, C. C. S., Robinson, B. G., Condon, A. F., Kielhold, M. L., Stormezand, G. N., Ma, K. Y., Dufke, C., Williams, J. T., Neve, K. A., Tijssen, M. A. J. & Verbeek, D. S., Mar-2021, In: Movement Disorders. 36, 3, p. 729-739 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Citations (Scopus)95 Downloads (Pure) -
Reply to: "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant": "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant"
van der Weijden, M. C. M., Rodriguez-Contreras, D., Neve, K. A., Verbeek, D. S. & Tijssen, M. A. J., Jun-2021, In: Movement Disorders. 36, 6, p. 1473-1474 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile2 Citations (Scopus)93 Downloads (Pure) -
2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)
Gregory, A., Lotia, M., Jeong, S. Y., Fox, R., Zhen, D., Sanford, L., Hamada, J., Jahic, A., Beetz, C., Freed, A., Kurian, M. A., Cullup, T., van der Weijden, M. C. M., Vy Nguyen, Setthavongsack, N., Garcia, D., Krajbich, V., Thao Pham, Woltjer, R. & George, B. P. & 5 others, , Jul-2019, In: Molecular genetics & genomic medicine. 7, 7, 11 p., 736.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile43 Citations (Scopus)226 Downloads (Pure) -
Cortical pencil lining on SWI MRI in NBIA and healthy aging
van der Weijden, M. C. M., van Laar, P. J., Lambrechts, R. A., Verbeek, D. S. & Tijssen, M. A. J., 14-Oct-2019, In: BMC NEUROLOGY. 19, 1, 8 p., 233.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)159 Downloads (Pure)