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A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.
Jansen C, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ. Jansen C, et al. Among authors: baas f. Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3. Acta Neuropathol. 2011. PMID: 20198483 Free PMC article. Review.
Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.
Jansen C, Parchi P, Capellari S, Ibrahim-Verbaas CA, Schuur M, Strammiello R, Corrado P, Bishop MT, van Gool WA, Verbeek MM, Baas F, van Saane W, Spliet WG, Jansen GH, van Duijn CM, Rozemuller AJ. Jansen C, et al. Among authors: baas f. PLoS One. 2012;7(4):e36333. doi: 10.1371/journal.pone.0036333. Epub 2012 Apr 30. PLoS One. 2012. PMID: 22558438 Free PMC article.
Phenotypes and genetic architecture of focal primary torsion dystonia.
Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA. Groen JL, et al. Among authors: baas f. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1006-11. doi: 10.1136/jnnp-2012-302729. Epub 2012 Jul 8. J Neurol Neurosurg Psychiatry. 2012. PMID: 22773857
417 results