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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Publicat a:PLoS One
Autors principals: 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
Idioma:Inglês
Publicat: Public Library of Science 2018
Matèries:
Research Article
Accés en línia: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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