Ontology highlight
ABSTRACT:
SUBMITTER: Suh E
PROVIDER: S-EPMC4545720 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Suh EunRan E Lee Edward B EB Neal Donald D Wood Elisabeth M EM Toledo Jon B JB Rennert Lior L Irwin David J DJ McMillan Corey T CT Krock Bryan B Elman Lauren B LB McCluskey Leo F LF Grossman Murray M Xie Sharon X SX Trojanowski John Q JQ Van Deerlin Vivianna M VM
Acta neuropathologica 20150529 3
We investigated whether chromosome 9 open reading frame 72 hexanucleotide repeat expansion (C9orf72 expansion) size in peripheral DNA was associated with clinical differences in frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) linked to C9orf72 repeat expansion mutations. A novel quantification workflow was developed to measure C9orf72 expansion size by Southern blot densitometry in a cross-sectional cohort of C9orf72 expansion carriers with FTD (n = 39), ALS (n = 33), b ...[more]