Ontology highlight
ABSTRACT:
SUBMITTER: Dobson-Stone C
PROVIDER: S-EPMC3577667 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Dobson-Stone Carol C Hallupp Marianne M Loy Clement T CT Thompson Elizabeth M EM Haan Eric E Sue Carolyn M CM Panegyres Peter K PK Razquin Cristina C Seijo-Martínez Manuel M Rene Ramon R Gascon Jordi J Campdelacreu Jaume J Schmoll Birgit B Volk Alexander E AE Brooks William S WS Schofield Peter R PR Pastor Pau P Kwok John B J JB
PloS one 20130220 2
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' p ...[more]