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

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 B...

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Main Authors: Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0208383

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https://doi.org/10.1371/journal.pone.0208383

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