The neuroinvasiveness, neurotropism, and neurovirulence of SARS-CoV-2

por Bauer, Lisa, Laksono, Brigitta M., de Vrij, Femke M.S., Kushner, Steven A., Harschnitz, Oliver, van Riel, Debby
Publicado 2022

Mutant ubiquitin found in neurodegenerative disorders is a ubiquitin fusion degradation substrate that blocks proteasomal degradation

por Lindsten, Kristina, de Vrij, Femke M.S., Verhoef, Lisette G.G.C., Fischer, David F., van Leeuwen, Fred W., Hol, Elly M., Masucci, Maria G., Dantuma, Nico P.
Publicado 2002

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function

por Okray, Zeynep, de Esch, Celine EF, Van Esch, Hilde, Devriendt, Koen, Claeys, Annelies, Yan, Jiekun, Verbeeck, Jelle, Froyen, Guy, Willemsen, Rob, de Vrij, Femke MS, Hassan, Bassem A
Publicado 2015

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

por de Esch, Celine E.F., Ghazvini, Mehrnaz, Loos, Friedemann, Schelling-Kazaryan, Nune, Widagdo, W., Munshi, Shashini T., van der Wal, Erik, Douben, Hannie, Gunhanlar, Nilhan, Kushner, Steven A., Pijnappel, W.W.M. Pim, de Vrij, Femke M.S., Geijsen, Niels, Gribnau, Joost, Willemsen, Rob
Publicado 2014

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

por Bouwkamp, Christian G., Afawi, Zaid, Fattal-Valevski, Aviva, Krabbendam, Inge E., Rivetti, Stefano, Masalha, Rafik, Quadri, Marialuisa, Breedveld, Guido J., Mandel, Hanna, Tailakh, Muhammad Abu, Beverloo, H. Berna, Stevanin, Giovanni, Brice, Alexis, van IJcken, Wilfred F.J., Vernooij, Meike W., Dolga, Amalia M., de Vrij, Femke M.S., Bonifati, Vincenzo, Kushner, Steven A.
Publicado 2018

Novel genetic loci affecting facial shape variation in humans

por Xiong, Ziyi, Dankova, Gabriela, Howe, Laurence J, Lee, Myoung Keun, Hysi, Pirro G, de Jong, Markus A, Zhu, Gu, Adhikari, Kaustubh, Li, Dan, Li, Yi, Pan, Bo, Feingold, Eleanor, Marazita, Mary L, Shaffer, John R, McAloney, Kerrie, Xu, Shu-Hua, Jin, Li, Wang, Sijia, de Vrij, Femke MS, Lendemeijer, Bas, Richmond, Stephen, Zhurov, Alexei, Lewis, Sarah, Sharp, Gemma C, Paternoster, Lavinia, Thompson, Holly, Gonzalez-Jose, Rolando, Bortolini, Maria Catira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Uitterlinden, André G, Ikram, M Arfan, Wolvius, Eppo, Kushner, Steven A, Nijsten, Tamar EC, Palstra, Robert-Jan TS, Boehringer, Stefan, Medland, Sarah E, Tang, Kun, Ruiz-Linares, Andres, Martin, Nicholas G, Spector, Timothy D, Stergiakouli, Evie, Weinberg, Seth M, Liu, Fan, Kayser, Manfred
Publicado 2019