Longitudinal Clinical, Neuropsychological, and Neuroimaging Characterization of a Kindred with a 12-Octapeptide Repeat Insertion in PRNP: The Next Generation

IMPORTANCE: Highly penetrant inherited mutations in the prion protein gene (PRNP) offer a window to study the pathobiology of prion disorders. OBJECTIVE: To characterize the longitudinal clinical features, neuropsychological findings, MRI findings, and FGD-PET scan imaging findings in a subsequent g...

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Gepubliceerd in:Neurocase
Hoofdauteurs: Townley, Ryan A., Polsinelli, Angelina J., Fields, Julie A., Machulda, Mary M., Jones, David T., Graff-Radford, Jonathan, Kantarci, Kejal M., Lowe, Val J., Rademakers, Rosa V., Baker, Matt C., Kumar, Neeraj, Boeve, Bradley F.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7426006/
https://ncbi.nlm.nih.gov/pubmed/32602775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13554794.2020.1787458
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