Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort

BACKGROUND: The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the frequency of C9orf72 repeat expansions in a...

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Bibliografiske detaljer
Udgivet i:PLoS One
Main Authors: Mehrabian, Shima, Thonberg, Håkan, Raycheva, Margarita, Lilius, Lena, Stoyanova, Katya, Forsell, Charlotte, Cavallin, Lena, Nesheva, Desislava, Westman, Eric, Toncheva, Draga, Traykov, Latchezar, Winblad, Bengt, Graff, Caroline
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2018
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6294384/
https://ncbi.nlm.nih.gov/pubmed/30550541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0208383
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