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Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.
Dis Model Mech. 2021 Nov 1;14(11):dmm049092. doi: 10.1242/dmm.049092. Epub 2021 Dec 1.
Dis Model Mech. 2021.
PMID: 34693978
Free PMC article.
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.
Buijsen RA, et al.
Acta Neuropathol Commun. 2014 Nov 26;2:162. doi: 10.1186/s40478-014-0162-2.
Acta Neuropathol Commun. 2014.
PMID: 25471011
Free PMC article.
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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.
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.
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Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates.
Haify SN, Mankoe RSD, Boumeester V, van der Toorn EC, Verhagen RFM, Willemsen R, Hukema RK, Bosman LWJ.
Haify SN, et al. Among authors: verhagen rfm.
Front Mol Biosci. 2020 Dec 14;7:599101. doi: 10.3389/fmolb.2020.599101. eCollection 2020.
Front Mol Biosci. 2020.
PMID: 33381520
Free PMC article.
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Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice.
Riemslagh FW, van der Toorn EC, Verhagen RFM, Maas A, Bosman LWJ, Hukema RK, Willemsen R.
Riemslagh FW, et al. Among authors: verhagen rfm.
Dis Model Mech. 2021 Jan 11;14(2):dmm044842. doi: 10.1242/dmm.044842. Online ahead of print.
Dis Model Mech. 2021.
PMID: 33431483
Free PMC article.
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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A.
Lecoquierre F, et al.
Genet Med. 2024 Mar 7;26(6):101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print.
Genet Med. 2024.
PMID: 38465576
Free article.
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