Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease

BACKGROUND: We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson Disease (PD) in a clinically- diagnosed dataset. As 10-25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized this may reflect phenotypic heterogeneity o...

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Hauptverfasser: NUYTEMANS, KAREN, INCHAUSTI, VANESSA, BEECHAM, GARY W., WANG, LIYONG, DICKSON, DENNIS W., TROJANOWSKI, JOHN Q., LEE, VIRGINIA M.-Y., MASH, DEBORAH C., FROSCH, MATTHEW P., FOROUD, TATIANA M., HONIG, LAWRENCE S., MONTINE, THOMAS J., DAWSON, TED M., MARTIN, EDEN R., SCOTT, WILLIAM K., VANCE, JEFFERY M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4022044/
https://ncbi.nlm.nih.gov/pubmed/24573903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.25838
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