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scopus: 6603723634

Capellari, S.

( S. Capellari)


disease prion patient mutation protein amyloid position prion protein cortex brain prion disease prpsc neuro fibrillary tangles plaque neuropathol deposit creutzfeldt-jakob disease creutzfeldt-jakob antibody prion protein gene analysis genotype prion diseases amyloid angiopathy cerebellum codon allele netherland polymorphism fragment accumulation dementia phenotype neuro duration residue fibrillary association cathepsin alzheimer y 226x mutation q 227x mutation month ??? patient 2 tangle angiopathy disease duration frontotemporal dementia result survival neurol study change deposition neurology number fi ndings centre prp-caa copyright © 2011 g 131v mutation blood vessels nding american association parchi gss disease sample distribution pathology signi tau accumulations novel amyloid depositions examination illness american codon mutations university neuropathologist




4 Most Recent Publications

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient (Article)
Jansen, C. Parchi, P. Capellari, S. Strammiello, R. Dopper, E.G.P. Swieten, J.C. van Kamphorst, W. Rozemuller, A.J.M.
2011-08-01
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP (Article)
Jansen, C. Parchi, P. Capellari, S. Vermeij, A.J. Corrado, P. Baas, F. Strammiello, R. Gool, W.A. van Swieten, J.C. van Rozemuller, A.J.M.
2010-02-01
Cathepsin D (C224T) polymorphism in sporadic and genetic creutzfeldt-jakob disease (Article)
Kovacs, G.G. Sanchez-Juan, P. Parchi, P. Gelpi, E. Gal, A. Bakos, A. Molnar, M.J. Heinemann, U. Zerr, I. Knight, R.S.G. Mitrová, E. Tikka-Kleemola, P. Ströbel, T. Budka, H. Schuur, M. Poleggi, A. Nocentini, S. Giannattasio, C. Belay, G. Bishop, M. Capellari, S.
2010-01-01
Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology (Article)
Jansen, C. Swieten, J.C. van Capellari, S. Strammiello, R. Parchi, P. Rozemuller, A.J.M.
2009-12-01