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Page 1
Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.
Cupidi C, Dijkstra AA, Melhem S, Vernooij MW, Severijnen LA, Hukema RK, Rozemuller AJM, Neumann M, van Swieten JC, Seelaar H. Cupidi C, et al. Among authors: severijnen la. J Neuropathol Exp Neurol. 2019 Jul 1;78(7):665-670. doi: 10.1093/jnen/nlz043. J Neuropathol Exp Neurol. 2019. PMID: 31150092
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
Wenzel HJ, Murray KD, Haify SN, Hunsaker MR, Schwartzer JJ, Kim K, La Spada AR, Sopher BL, Hagerman PJ, Raske C, Severijnen LWFM, Willemsen R, Hukema RK, Berman RF. Wenzel HJ, et al. Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7. Acta Neuropathol Commun. 2019. PMID: 30808398 Free PMC article.
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA. Verkerk AJMH, et al. Among authors: severijnen la. Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26. Eur J Hum Genet. 2018. PMID: 29374277 Free PMC article.
Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LW, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC. Hukema RK, et al. Acta Neuropathol Commun. 2016 Dec 9;4(1):129. doi: 10.1186/s40478-016-0401-9. Acta Neuropathol Commun. 2016. PMID: 27938413 Free PMC article. No abstract available.
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
Hukema RK, Buijsen RA, Schonewille M, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Verhagen RF, van Dessel L, Maas A, Charlet-Berguerand N, De Zeeuw CI, Hagerman PJ, Berman RF, Willemsen R. Hukema RK, et al. Among authors: severijnen la. Hum Mol Genet. 2015 Sep 1;24(17):4948-57. doi: 10.1093/hmg/ddv216. Epub 2015 Jun 9. Hum Mol Genet. 2015. PMID: 26060190 Free PMC article.
54 results