Kamphorst W - Search Results

1

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.

Jansen C, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ. Jansen C, et al. Among authors: kamphorst w. J Neuropathol Exp Neurol. 2011 Aug;70(8):698-702. doi: 10.1097/NEN.0b013e3182270c54. J Neuropathol Exp Neurol. 2011. PMID: 21760536

2

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

3

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank; Bakker EB; International Parkinsonism Genetics Network; Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J. Wong TH, et al. Among authors: kamphorst w. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Brain. 2014. PMID: 24722252

4

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: kamphorst w. Brain. 2007 May;130(Pt 5):1375-85. doi: 10.1093/brain/awm024. Epub 2007 Mar 14. Brain. 2007. PMID: 17360763 Free article.

5

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

6

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: kamphorst w. Brain. 2003 Sep;126(Pt 9):2016-22. doi: 10.1093/brain/awg204. Epub 2003 Jul 22. Brain. 2003. PMID: 12876142

7

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.

van Swieten JC, Rosso SM, van Herpen E, Kamphorst W, Ravid R, Heutink P. van Swieten JC, et al. Among authors: kamphorst w. Dement Geriatr Cogn Disord. 2004;17(4):261-4. doi: 10.1159/000077150. Dement Geriatr Cogn Disord. 2004. PMID: 15178932 Review.

8

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: kamphorst w. Ann Neurol. 2003 Nov;54(5):573-81. doi: 10.1002/ana.10721. Ann Neurol. 2003. PMID: 14595646

9

Survival in progressive supranuclear palsy and frontotemporal dementia.

Chiu WZ, Kaat LD, Seelaar H, Rosso SM, Boon AJ, Kamphorst W, van Swieten JC. Chiu WZ, et al. Among authors: kamphorst w. J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):441-5. doi: 10.1136/jnnp.2009.195719. J Neurol Neurosurg Psychiatry. 2010. PMID: 20360166

10

Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways.

Bronner IF, Bochdanovits Z, Rizzu P, Kamphorst W, Ravid R, van Swieten JC, Heutink P. Bronner IF, et al. Among authors: kamphorst w. PLoS One. 2009 Aug 28;4(8):e6826. doi: 10.1371/journal.pone.0006826. PLoS One. 2009. PMID: 19714246 Free PMC article.

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