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

2

Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families.

Heutink P, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC. Heutink P, et al. Among authors: rizzu p. Ann Neurol. 1997 Feb;41(2):150-9. doi: 10.1002/ana.410410205. Ann Neurol. 1997. PMID: 9029063

3

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.

Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, Niermeijer MF, Hillebrand M, Ravid R, Oostra BA, Goedert M, van Duijn CM, Heutink P. Rizzu P, et al. Am J Hum Genet. 1999 Feb;64(2):414-21. doi: 10.1086/302256. Am J Hum Genet. 1999. PMID: 9973279 Free PMC article.

4

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Koning I, Kamphorst W, Ravid R, Spillantini MG, Niermeijer, Heutink P. van Swieten JC, et al. Among authors: rizzu p. Ann Neurol. 1999 Oct;46(4):617-26. doi: 10.1002/1531-8249(199910)46:4<617::aid-ana10>3.0.co;2-i. Ann Neurol. 1999. PMID: 10514099

5

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. Hum Mol Genet. 2000 Dec 12;9(20):3075-82. doi: 10.1093/hmg/9.20.3075. Hum Mol Genet. 2000. PMID: 11115852

6

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Bonifati V, et al. Among authors: rizzu p. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21. Science. 2003. PMID: 12446870

7

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.

Bonifati V, Rizzu P, Squitieri F, Krieger E, Vanacore N, van Swieten JC, Brice A, van Duijn CM, Oostra B, Meco G, Heutink P. Bonifati V, et al. Among authors: rizzu p. Neurol Sci. 2003 Oct;24(3):159-60. doi: 10.1007/s10072-003-0108-0. Neurol Sci. 2003. PMID: 14598065

8

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. Ann Neurol. 2004 Jan;55(1):113-8. doi: 10.1002/ana.10782. Ann Neurol. 2004. PMID: 14705119

9

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.

Rizzu P, van Mil SE, Anar B, Rosso SM, Donker Kaat L, Heutink P, van Swieten JC. Rizzu P, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):944-6. doi: 10.1002/ajmg.b.30410. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16941655

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: rizzu p. 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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