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Items: 16

1.

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.

Zeidler S, Pop AS, Jaafar IA, de Boer H, Buijsen RAM, de Esch CEF, Nieuwenhuizen-Bakker I, Hukema RK, Willemsen R.

Brain Behav. 2018 Jun;8(6):e00991. doi: 10.1002/brb3.991. Epub 2018 Apr 26.

2.

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.

Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.

3.

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Castro H, Kul E, Buijsen RAM, Severijnen LWFM, Willemsen R, Hukema RK, Stork O, Santos M.

Hum Mol Genet. 2017 Jun 1;26(11):2133-2145. doi: 10.1093/hmg/ddx108.

4.

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N.

Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5.

5.

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.

Hum Reprod. 2016 Jan;31(1):158-68. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3.

6.

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.

Hum Mol Genet. 2015 Sep 1;24(17):4948-57. doi: 10.1093/hmg/ddv216. Epub 2015 Jun 9.

7.

Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test.

de Esch CE, van den Berg WE, Buijsen RA, Jaafar IA, Nieuwenhuizen-Bakker IM, Gasparini F, Kushner SA, Willemsen R.

Neurobiol Dis. 2015 Mar;75:31-9. doi: 10.1016/j.nbd.2014.12.021. Epub 2015 Jan 3.

PMID:
25562659
8.

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.

Cell Cycle. 2014;13(16):2600-8. doi: 10.4161/15384101.2014.943112.

9.

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.

Buijsen RA, Sellier C, Severijnen LA, Oulad-Abdelghani M, Verhagen RF, Berman RF, Charlet-Berguerand N, Willemsen R, Hukema RK.

Acta Neuropathol Commun. 2014 Nov 26;2:162. doi: 10.1186/s40478-014-0162-2. No abstract available.

10.

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.

Berman RF, Buijsen RA, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema RK.

J Neurodev Disord. 2014;6(1):25. doi: 10.1186/1866-1955-6-25. Epub 2014 Jul 30. Review.

11.

Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant.

Pop AS, Levenga J, de Esch CE, Buijsen RA, Nieuwenhuizen IM, Li T, Isaacs A, Gasparini F, Oostra BA, Willemsen R.

Psychopharmacology (Berl). 2014 Mar;231(6):1227-35. doi: 10.1007/s00213-012-2947-y. Epub 2012 Dec 21.

PMID:
23254376
12.

Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice.

Gantois I, Pop AS, de Esch CE, Buijsen RA, Pooters T, Gomez-Mancilla B, Gasparini F, Oostra BA, D'Hooge R, Willemsen R.

Behav Brain Res. 2013 Feb 15;239:72-9. doi: 10.1016/j.bbr.2012.10.059. Epub 2012 Nov 6.

PMID:
23142366
13.

The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.

Vinueza Veloz MF, Buijsen RA, Willemsen R, Cupido A, Bosman LW, Koekkoek SK, Potters JW, Oostra BA, De Zeeuw CI.

Genes Brain Behav. 2012 Apr;11(3):325-31. doi: 10.1111/j.1601-183X.2011.00763.x. Epub 2012 Jan 19.

14.

Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice.

Levenga J, de Vrij FM, Buijsen RA, Li T, Nieuwenhuizen IM, Pop A, Oostra BA, Willemsen R.

Neurobiol Learn Mem. 2011 May;95(4):467-72. doi: 10.1016/j.nlm.2011.02.009. Epub 2011 Mar 1.

PMID:
21371563
15.

AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.

Levenga J, Hayashi S, de Vrij FM, Koekkoek SK, van der Linde HC, Nieuwenhuizen I, Song C, Buijsen RA, Pop AS, Gomezmancilla B, Nelson DL, Willemsen R, Gasparini F, Oostra BA.

Neurobiol Dis. 2011 Jun;42(3):311-7. doi: 10.1016/j.nbd.2011.01.022. Epub 2011 Feb 21.

PMID:
21316452
16.

Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.

Levenga J, Buijsen RA, Rifé M, Moine H, Nelson DL, Oostra BA, Willemsen R, de Vrij FM.

Neurobiol Dis. 2009 Aug;35(2):241-50. doi: 10.1016/j.nbd.2009.05.004. Epub 2009 May 21.

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