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mutation patient disease family protein brain study dementia analysis frontotemporal dementia frontotemporal sample control ftd þ mnd cohort antibody association region inclusion netherland haplotype expression chromosome group motor neuron disease table neuron frontotemporal lobar degeneration onset family history population effect result alzheimer neurol neurology isoform 4 r tau microtubule p 301l mutation genet allele parkinson dutch k 280 mutation university tau protein figure factor locus -43 cortex degeneration polymorphism motor signi variant pathology history ubap 1 pathway department change parkinsonism tau gene ratio goedert staining variation linkage block lobar sequence ubiquitin tau-p sclerosis hemangioblastoma p 301l protein autosomal tdp -43
10 Most Recent Publications
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Blood-brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: Effect of polymorphisms in the ABCB1 gene
(Article)
Assema, D.M.E. van Lubberink, M. Rizzu, P. Swieten, J.C. van Schuit, R.C. Eriksson, J. Scheltens, P. Koepp, M. Lammertsma, A.A. Berckel, B.N.M. van |
2012-12-01
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Genome-wide association study confirms extant PD risk loci among the Dutch
(Article)
Simón-Sánchez, J. Hilten, J.J. van Bloem, B. Dijk, K.D. van Rivadeneira Ramirez, F. Hofman, A. Uitterlinden, A.G. Rizzu, P. Bochdanovits, Z. Singleton, A.B. Heutink, P. Warrenburg, B. van de Post, B. Berendse, H.W. Arepalli, S. Hernandez, D.G. Bie, R.M.A. de Velseboer, D. Scheffer, H. |
2011-06-01
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Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways
(Article)
Bronner, I.F. Bochdanovits, Z. Rizzu, P. Kamphorst, W. Ravid, R. Swieten, J.C. van Heutink, P. |
2009-08-28
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Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration
(Article)
Rollinson, S. Rizzu, P. Mead, S. Collinge, J. Rossor, M. Akay, E. Guerreiro, R. Rademakers, R. Morrison, K.E. Pastor, P. Alonso, E. Martinez-Lage, P. Sikkink, S. Graff-Radford, N.R. Neary, D. Heutink, P. Mann, D.M.A. Swieten, J.C. van Pickering-Brown, S. Baker, M.C. Halliwell, N. Snowden, J. Traynor, B.J. Ruano, D. Cairns, N.J. Rohrer, J.D. |
2009-04-01
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A functional polymorphism under positive evolutionary selection in ADRB2 is associated with human intelligence with opposite effects in the young and the elderly
(Article)
Bochdanovits, Z. Gosso, F.M. Deary, I.J. Geus, E.J.C. de Boomsma, D.I. Heutink, P. Posthuma, D. Berg, L. van den Rizzu, P. Polderman, T.J.C. Pardo Cortes, L.M. Houlihan, L.M. Luciano, M. Starr, J.M. Harris, S.E. |
2009-01-01
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Distinct genetic forms of frontotemporal dementia.
(Article)
Seelaar, H. Kamphorst, W. Dooijes, D. Rozemuller, J.M. Bronner, I.F. Rizzu, P. Swieten, J.C. van Rosso, S.M. Azmani, A. Masdjedi, R. Koning, I. de Maat-Kievit, A.A. Anar, B. Donker Kaat, L. Breedveld, G.J. |
2008-10-14
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TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations
(Article)
Seelaar, H. Jurgen Schelhaas, H. Kamphorst, W. Willemsen, R. Swieten, J.C. van Azmani, A. Küsters, B. Rosso, S.M. Majoor-Krakauer, D.F. Rijik, M.C. de Rizzu, P. Brummelhuis, M. ten Doorn, P.A. van |
2007-05-01
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Progranulin mutations in Dutch familial frontotemporal lobar degeneration
(Article)
Bronner, I.F. Rizzu, P. Seelaar, H. Mil, S.E. van Anar, B. Azmani, A. Donker Kaat, L. Rosso, S.M. Heutink, P. Swieten, J.C. van |
2007-03-01
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The ΔK280 mutation in MAP tau favors exon 10 skipping in vivo
(Article)
Swieten, J.C. van Bronner, I.F. Azmani, A. Severijnen, L.A. Kamphorst, W. Ravid, R. Rizzu, P. Willemsen, R. Heutink, P. |
2007-01-01
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DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
(Article)
Bonifati, V. Squitieri, F. Rizzu, P. Krieger, E. Vanacore, N. Swieten, J.C. van Brice, A. Duijn, C.M. van Meco, G. Heutink, P. Oostra, B.A. |
2003-10-01
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