Search Results - "van Herpen, Esther"

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17 by van Swieten, John C, Rosso, Sonia M, van Herpen, Esther, Kamphorst, Wouter, Ravid, Rivka, Heutink, Peter

“…Hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) caused by mutations in the tau gene shows a wide range in age at onset,…”
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Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations by Rosso, Sonia M, van Herpen, Esther, Pijnenburg, Yolande A L, Schoonenboom, Niki S M, Scheltens, Philip, Heutink, Peter, van Swieten, John C

“…Frontotemporal dementia (FTD) is a pathologically heterogeneous group of presenile neurodegenerative disorders, with or without the deposition of…”
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Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R by Van Herpen, Esther, Rosso, Sonia M., Serverijnen, Lies-Anne, Yoshida, Hirotaka, Breedveld, Guido, Van De Graaf, Raoul, Kamphorst, Wouter, Ravid, Rivka, Willemsen, Rob, Dooijes, Dennis, Majoor-Krakauer, Daniëlle, Kros, Johan M., Crowther, R. Anthony, Goedert, Michel, Heutink, Peter, Van Swieten, John C.

“…Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here, we describe two Dutch families with familial…”
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A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease by Rosso, Sonia M., Van Herpen, Esther, Deelen, Wout, Kamphorst, Wouter, Severijnen, Lies-Anne, Willemsen, Rob, Ravid, Rivka, Niermeijer, Martinus F., Dooijes, Dennis, Smith, Michael J., Goedert, Michel, Heutink, Peter, Van Swieten, John C.

“…Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. In this article, we describe a novel missense…”
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