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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
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Hutton M, et al. Among authors: rizzu p. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
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
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
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.
Bonifati V, Joosse M, Nicholl DJ, Vanacore N, Bennett P, Rizzu P, Fabbrini G, Marconi R, Colosimo C, Locuratolo N, Stocchi F, Bonuccelli U, De Mari M, Wenning G, Vieregge P, Oostra B, Meco G, Heutink P. Bonifati V, et al. Among authors: rizzu p. Neurosci Lett. 1999 Oct 15;274(1):61-5. doi: 10.1016/s0304-3940(99)00669-2. Neurosci Lett. 1999. PMID: 10530520
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
152 results