Rizzu P - Search Results

1

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.

Miedema SSM, Mol MO, Koopmans FTW, Hondius DC, van Nierop P, Menden K, de Veij Mestdagh CF, van Rooij J, Ganz AB, Paliukhovich I, Melhem S, Li KW, Holstege H, Rizzu P, van Kesteren RE, van Swieten JC, Heutink P, Smit AB. Miedema SSM, et al. Among authors: rizzu p. Acta Neuropathol Commun. 2022 Jul 7;10(1):100. doi: 10.1186/s40478-022-01387-8. Acta Neuropathol Commun. 2022. PMID: 35799292 Free PMC 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

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations.

Houlden H, Rizzu P, Stevens M, de Knijff P, van Duijn CM, van Swieten JC, Heutink P, Perez-Tur J, Thomas V, Baker M, Morris H, Rossor M, Jannsen JC, Petersen RC, Dodd P, Dark F, Boeve B, Dickson D, Davies P, Pickering-Brown S, Mann D, Adamson J, Lynch T, Payami H, Hardy J, et al. Houlden H, et al. Among authors: rizzu p. Neurosci Lett. 1999 Feb 5;260(3):193-5. doi: 10.1016/s0304-3940(98)00931-8. Neurosci Lett. 1999. PMID: 10076900

5

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

6

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

7

A double RING-H2 domain in RNF32, a gene expressed during sperm formation.

van Baren MJ, van der Linde HC, Breedveld GJ, Baarends WM, Rizzu P, de Graaff E, Oostra BA, Heutink P. van Baren MJ, et al. Among authors: rizzu p. Biochem Biophys Res Commun. 2002 Mar 22;292(1):58-65. doi: 10.1006/bbrc.2002.6612. Biochem Biophys Res Commun. 2002. PMID: 11890671

8

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

9

Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22.

Savioz A, Riederer BM, Heutink P, Rizzu P, Tolnay M, Kövari E, Probst A, Riederer Ir, Bouras C, Leuba G. Savioz A, et al. Among authors: rizzu p. Neurobiol Dis. 2003 Feb;12(1):46-55. doi: 10.1016/s0969-9961(02)00011-6. Neurobiol Dis. 2003. PMID: 12609488

10

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes.

Macedo MG, Anar B, Bronner IF, Cannella M, Squitieri F, Bonifati V, Hoogeveen A, Heutink P, Rizzu P. Macedo MG, et al. Among authors: rizzu p. Hum Mol Genet. 2003 Nov 1;12(21):2807-16. doi: 10.1093/hmg/ddg304. Epub 2003 Sep 2. Hum Mol Genet. 2003. PMID: 12952867

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