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mutation patient protein family study disease dementia chromosome sequence region analysis brain marker p 301l mutation transcript frontotemporal dementia antibody genomic family history clone tau protein microtubule frontotemporal 4 r tau tau gene isoform genet alzheimer netherland deletion p 301l protein tau-p onset candidate prevalence c 7orf tau mutations microtubule assembly identi presenilin position family members microtubule-associated protein tau goedert p 301l patients change function assembly table population history library product diagnosis neurol identi fied neuron polymorphic markers individual p 301l tau member cortex c 7orf transcripts control disorder genetic polymorphic contig ppd candidate region primer tau-p 301l antibodies nucleotide chorea fragment filament missense p 301l effect heutink symptom
7 Most Recent Publications
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Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.
(Article)
Rosso, S.M. Donker Kaat, L. Niermeijer, M.F. Verheij, F. Kremer, H.P. Scheltens, P. Duijn, C.M. van Heutink, P. Swieten, J.C. van Baks, T. Joosse, M. Koning, I. de Pijnenburg, Y. Jong, D. de Dooijes, D. Kamphorst, W. Ravid, R. |
2003-09-01
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A novel presenilin 1 mutation (L174M) in a large Cuban family with early onset Alzheimer disease.
(Article)
Marcheco Teruel, B. Llibre Rodriguez, J.J. Gomez Viera, N. Borrajero Martinez, I. Severijnen, E.A. Joosse, M. Duijn, C.M. van Heredero-Baute, L. Heutink, P. Bertoli Avella, A.M. |
2002-10-01
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Mutations in TITF-1 are associated with benign hereditary chorea
(Article)
Breedveld, G.J. Guala, A. Joosse, M. MacDonald, M.E. Krude, H. Grüters, A. Dongen, J.W.F. van Danesino, C. Heutink, P. Oostra, B.A. Percy, A.K. Dure, L.S. Harper, P. Arts, W.F.M. Lazarou, L.P. Linde, H. van der Vries, B.B.A. de |
2002-01-01
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A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
(Article)
Njajou, O.T. Vaessen, N. Dongen, J.W.F. van Heutink, P. Joosse, M. Berghuis, B. Breuning, M.H. Snijders, P.J.L.M. Rutten, W.P.F. Sandkuijl, L.A. Oostra, B.A. Duijn, C.M. van |
2001-07-20
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Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients
(Article)
Rizzu, P. Joosse, M. Ravid, R. Kamphorst, W. Swieten, J.C. van Willemsen, R. Hoogeveen, A.T. Heutink, P. |
2000-01-01
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A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36
(Article)
Heus, H.C. Hing, A. Scherer, S.W. Rommens, J.M. Oostra, B.A. Heutink, P. Baren, M.J. van Joosse, M. Breedveld, G.J. Wang, J.C. Burgess, A. Donnis-Keller, H. Berglund, C. Zguricas, J. |
1999-05-01
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High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
(Article)
Rizzu, P. Hillebrand, M. Tibben, A. Niermeijer, M.F. Heutink, P. Ravid, R. Oostra, B.A. Duijn, C.M. van Goedert, M. Swieten, J.C. van Joosse, M. Hasegawa, M. Stevens, M. |
1999-01-01
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