| Title: |
C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population |
| Authors: |
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.; Illarioshkin, Sergey N.; Skvortsova, Veronika I.; Ninkina, Natalia |
| Publisher Information: |
Elsevier |
| Publication Year: |
2015 |
| Collection: |
Cardiff University: ORCA (Online Research @ Cardiff) |
| Subject Terms: |
RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry |
| Description: |
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 |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://orca.cardiff.ac.uk/id/eprint/76309/1/C9ORF72%20NBA%202015%20R1%20post-print.pdf; 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. https://orca.cardiff.ac.uk/view/cardiffauthors/A050654U.html orcid:0000-0002-7631-8352 orcid:0000-0002-7631-8352, Illarioshkin, Sergey N., Skvortsova, Veronika I. and Ninkina, Natalia https://orca.cardiff.ac.uk/view/cardiffauthors/A0661964.html orcid:0000-0001-8570-5648 orcid:0000-0001-8570-5648 2015. C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population. Neurobiology of Aging 36 (10) , 2908.e5-2908.e9. 10.1016/j.neurobiolaging.2015.07.004 https://doi.org/10.1016/j.neurobiolaging.2015.07.004 file https://orca.cardiff.ac.uk/id/eprint/76309/1/C9ORF72%20NBA%202015%20R1%20post-print.pdf |
| DOI: |
10.1016/j.neurobiolaging.2015.07.004 |
| Availability: |
https://orca.cardiff.ac.uk/id/eprint/76309/; https://doi.org/10.1016/j.neurobiolaging.2015.07.004 |
| Accession Number: |
edsbas.B9ABC16B |
| Database: |
BASE |