Willemsen R - Search Results

1

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.

Seelaar H, Schelhaas HJ, Azmani A, Küsters B, Rosso S, Majoor-Krakauer D, de Rijk MC, Rizzu P, ten Brummelhuis M, van Doorn PA, Kamphorst W, Willemsen R, van Swieten JC. Seelaar H, et al. Among authors: willemsen r. Brain. 2007 May;130(Pt 5):1375-85. doi: 10.1093/brain/awm024. Epub 2007 Mar 14. Brain. 2007. PMID: 17360763 Free article.

2

Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.

Rizzu P, Joosse M, Ravid R, Hoogeveen A, Kamphorst W, van Swieten JC, Willemsen R, Heutink P. Rizzu P, et al. Among authors: willemsen r. Hum Mol Genet. 2000 Dec 12;9(20):3075-82. doi: 10.1093/hmg/9.20.3075. Hum Mol Genet. 2000. PMID: 11115852

3

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.

Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, Spillantini MG, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: willemsen r. Brain. 2001 Oct;124(Pt 10):1948-57. doi: 10.1093/brain/124.10.1948. Brain. 2001. PMID: 11571213 Free article.

4

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: willemsen r. Ann Neurol. 2002 Mar;51(3):373-6. doi: 10.1002/ana.10140. Ann Neurol. 2002. PMID: 11891833

5

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

van Herpen E, Rosso SM, Serverijnen LA, Yoshida H, Breedveld G, van de Graaf R, Kamphorst W, Ravid R, Willemsen R, Dooijes D, Majoor-Krakauer D, Kros JM, Crowther RA, Goedert M, Heutink P, van Swieten JC. van Herpen E, et al. Among authors: willemsen r. Ann Neurol. 2003 Nov;54(5):573-81. doi: 10.1002/ana.10721. Ann Neurol. 2003. PMID: 14595646

6

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: willemsen r. Brain. 2005 Nov;128(Pt 11):2645-53. doi: 10.1093/brain/awh591. Epub 2005 Jul 13. Brain. 2005. PMID: 16014652

7

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.

Bergink S, Severijnen LA, Wijgers N, Sugasawa K, Yousaf H, Kros JM, van Swieten J, Oostra BA, Hoeijmakers JH, Vermeulen W, Willemsen R. Bergink S, et al. Among authors: willemsen r. Neurobiol Dis. 2006 Sep;23(3):708-16. doi: 10.1016/j.nbd.2006.06.005. Epub 2006 Jul 24. Neurobiol Dis. 2006. PMID: 16860562

8

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: willemsen r. J Neuropathol Exp Neurol. 2007 Jan;66(1):17-25. doi: 10.1097/nen.0b013e31802c39a4. J Neuropathol Exp Neurol. 2007. PMID: 17204933

9

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Among authors: willemsen r. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753

10

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Among authors: willemsen r. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876

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