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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: berman rf. 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.
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, Sherman SL, Berman RF, Willemsen R, Hukema RK. Buijsen RA, et al. Among authors: berman rf. Hum Reprod. 2016 Jan;31(1):158-68. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3. Hum Reprod. 2016. PMID: 26537920 Free PMC article.
Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.
Hukema RK, Buijsen RA, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Minneboo M, Maas A, de Crom R, Kros JM, Hagerman PJ, Berman RF, Willemsen R. Hukema RK, et al. Among authors: berman rf. Cell Cycle. 2014;13(16):2600-8. doi: 10.4161/15384101.2014.943112. Cell Cycle. 2014. PMID: 25486200 Free PMC article.
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. Among authors: berman rf. 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.
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
Cunningham CL, Martínez Cerdeño V, Navarro Porras E, Prakash AN, Angelastro JM, Willemsen R, Hagerman PJ, Pessah IN, Berman RF, Noctor SC. Cunningham CL, et al. Among authors: berman rf. Hum Mol Genet. 2011 Jan 1;20(1):64-79. doi: 10.1093/hmg/ddq432. Epub 2010 Oct 8. Hum Mol Genet. 2011. PMID: 20935171 Free PMC article.
154 results