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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Enregistré dans:
Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: 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
Langue:Inglês
Publié: Public Library of Science 2018
Sujets:
Research Article
Accès en ligne: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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