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The right temporal variant of frontotemporal dementia is not genetically sporadic: A Case Series
Erkoyun, H. U., van der Lee, S. J., Nijmeijer, B., van Spaendonk, R., Nelissen, A., Scarioni, M., Dijkstra, A., Samancı, B., Gürvit, H., Yıldırım, Z., Tepgeç, F., Bilgic, B., Barkhof, F., Rozemuller, A., van der Flier, W. M., Scheltens, P., Cohn-Hokke, P. & Pijnenburg, Y., 2021, In: Journal of Alzheimer s disease. 79, 3, p. 1195-1201 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element
Bouman, A., van Haelst, M. & van Spaendonk, R., 2018, In: Clinical dysmorphology. 27, 2, p. 58-62Research output: Contribution to journal › Article* › Academic › peer-review
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Altered PLP1 splicing causes hypomyelination of early myelinating structures
Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Østergaard, J. R., Friederich, R. L., Fawzi Elsaid, M., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S. & Steenweg, M. E. & 7 others, , 2015, In: Annals of clinical and translational neurology. 2, 6, p. 648-661Research output: Contribution to journal › Article* › Academic › peer-review
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