Abramycheva, Natalya Y., Lysogorskaia, Elena V., Stepanova, Maria S., Zakharova, Maria N., Kovrazhkina, Elena A., Razinskaya, Olga D., Smirnov, Andrey P., Maltsev, Andrey V., Ustyugov, Alexey A., Kukharsky, Michail S., Khritankova, Inna V., Bachurin, Sergey O., Cooper-Knock, Johnathan, Buchman, Vladimir L. ![]() ![]() |
Preview |
PDF
- Accepted Post-Print Version
Download (416kB) | Preview |
Official URL: http://dx.doi.org/10.1016/j.neurobiolaging.2015.07...
Abstract
Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) and 2.5% of sporadic ALS cases (6 of 238) but in none of control cases. These results suggest that the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European
Item Type: | Article |
---|---|
Date Type: | Publication |
Status: | Published |
Schools: | Biosciences |
Subjects: | R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry |
Uncontrolled Keywords: | Amyotrophic lateral sclerosis; Mutation; Repeat expansion |
Additional Information: | Available online 9 July 2015 |
Publisher: | Elsevier |
ISSN: | 0197-4580 |
Date of First Compliant Deposit: | 30 March 2016 |
Date of Acceptance: | 4 July 2015 |
Last Modified: | 29 Nov 2024 13:15 |
URI: | https://orca.cardiff.ac.uk/id/eprint/76309 |
Citation Data
Cited 10 times in Scopus. View in Scopus. Powered By Scopus® Data
Actions (repository staff only)
![]() |
Edit Item |