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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:PLoS One
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Public Library of Science 2018
Schlagworte:
Research Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge