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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: ravid r. J Neuropathol Exp Neurol. 2007 Jan;66(1):17-25. doi: 10.1097/nen.0b013e31802c39a4. J Neuropathol Exp Neurol. 2007. PMID: 17204933
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.
Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: ravid r. Brain. 2003 Sep;126(Pt 9):2016-22. doi: 10.1093/brain/awg204. Epub 2003 Jul 22. Brain. 2003. PMID: 12876142
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: ravid r. 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
216 results