Severijnen LA - Search Results

1

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

Rosso SM, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: severijnen la. Ann Neurol. 2002 Mar;51(3):373-6. doi: 10.1002/ana.10140. Ann Neurol. 2002. PMID: 11891833

2

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.

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. Castro H, et al. Hum Mol Genet. 2017 Jun 1;26(11):2133-2145. doi: 10.1093/hmg/ddx108. Hum Mol Genet. 2017. PMID: 28369393 Free PMC article.

4

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.

Cid-Samper F, Gelabert-Baldrich M, Lang B, Lorenzo-Gotor N, Ponti RD, Severijnen LWFM, Bolognesi B, Gelpi E, Hukema RK, Botta-Orfila T, Tartaglia GG. Cid-Samper F, et al. Cell Rep. 2018 Dec 18;25(12):3422-3434.e7. doi: 10.1016/j.celrep.2018.11.076. Cell Rep. 2018. PMID: 30566867 Free PMC article.

5

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.

6

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.

Riemslagh FW, Lans H, Seelaar H, Severijnen LWFM, Melhem S, Vermeulen W, Aronica E, Pasterkamp RJ, van Swieten JC, Willemsen R. Riemslagh FW, et al. Acta Neuropathol Commun. 2019 Mar 13;7(1):39. doi: 10.1186/s40478-019-0694-6. Acta Neuropathol Commun. 2019. PMID: 30867060 Free PMC article.

7

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

Haify SN, Buijsen RAM, Verwegen L, Severijnen LWFM, de Boer H, Boumeester V, Monshouwer R, Yang WY, Cameron MD, Willemsen R, Disney MD, Hukema RK. Haify SN, et al. Hum Mol Genet. 2021 Aug 12;30(17):1632-1648. doi: 10.1093/hmg/ddab143. Hum Mol Genet. 2021. PMID: 34077515 Free PMC article.

8

Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology.

Bronner IF, ter Meulen BC, Azmani A, Severijnen LA, Willemsen R, Kamphorst W, Ravid R, Heutink P, van Swieten JC. Bronner IF, et al. Among authors: severijnen la. Brain. 2005 Nov;128(Pt 11):2645-53. doi: 10.1093/brain/awh591. Epub 2005 Jul 13. Brain. 2005. PMID: 16014652

9

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.

Rizzu P, Hinkle DA, Zhukareva V, Bonifati V, Severijnen LA, Martinez D, Ravid R, Kamphorst W, Eberwine JH, Lee VM, Trojanowski JQ, Heutink P. Rizzu P, et al. Among authors: severijnen la. Ann Neurol. 2004 Jan;55(1):113-8. doi: 10.1002/ana.10782. Ann Neurol. 2004. PMID: 14705119

10

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.

van Swieten JC, Bronner IF, Azmani A, Severijnen LA, Kamphorst W, Ravid R, Rizzu P, Willemsen R, Heutink P. van Swieten JC, et al. Among authors: severijnen la. J Neuropathol Exp Neurol. 2007 Jan;66(1):17-25. doi: 10.1097/nen.0b013e31802c39a4. J Neuropathol Exp Neurol. 2007. PMID: 17204933

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