HDDD2 Is a Familial Frontotemporal Lobar Degeneration with Ubiquitin-Positive, Tau-Negative Inclusions Caused by a Missense Mutation in the Signal Peptide of Progranulin

OBJECTIVE: Familial autosomal dominant frontotemporal dementia with ubiquitin-positive, tau-negative inclusions in the brain linked to 17q21-22 recently has been reported to carry null mutations in the progranulin gene (PGRN). Hereditary dysphasic disinhibition dementia (HDDD) is a frontotemporal de...

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Hoofdauteurs: Mukherjee, Odity, Pastor, Pau, Cairns, Nigel J., Chakraverty, Sumi, Kauwe, John S. K., Shears, Shantia, Behrens, Maria I., Budde, John, Hinrichs, Anthony L., Norton, Joanne, Levitch, Denise, Taylor-Reinwald, Lisa, Gitcho, Michael, Tu, P.-H., Grinberg, Lea Tenenholz, Liscic, Rajka M., Armendariz, Javier, Morris, John C., Goate, Alison M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2006
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2803024/
https://ncbi.nlm.nih.gov/pubmed/16983685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.20963
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