<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "Screening for C9ORF72 repeat expansion in FTLD"^^ . "In the present study we aimed to determine the prevalence of {C9ORF72} {GGGGCC} hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral sclerosis ALS) out of 53 patients and 1 neurologically normal control. Interestingly, 2 of the \\{C9ORF72\\} expansion carriers also carried 2 novel missense mutations in \\{GRN\\} (Y294C) and in PSEN-2(I146V). Further, 1 of the \\{C9ORF72\\} expansion carriers, for whom pathology was available, showed amyloid plaques and tangles in addition to \\{TAR\\} (trans-activation response) DNA-binding protein (TDP)-43 pathology. In summary, our findings suggest that the hexanucleotide expansion is probably associated with ALS, FTD, or FTD-ALS and occasional comorbid conditions such as Alzheimer's disease. These findings are novel and need to be cautiously interpreted and most importantly replicated in larger numbers of samples."^^ . "2012" . . "33" . "8" . . "Elsevier"^^ . . . "Neurobiology of Aging"^^ . . . "01974580" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "Stephanie"^^ . "Cosentino"^^ . "Stephanie Cosentino"^^ . . "Raffaele"^^ . "Ferrari"^^ . "Raffaele Ferrari"^^ . . "Michael C."^^ . "Tierney"^^ . "Michael C. Tierney"^^ . . "John"^^ . "Hardy"^^ . "John Hardy"^^ . . "Parastoo"^^ . "Momeni"^^ . "Parastoo Momeni"^^ . . "Gregory A."^^ . "Jicha"^^ . "Gregory A. Jicha"^^ . . "Pietro"^^ . "Pietrini"^^ . "Pietro Pietrini"^^ . . "Jill"^^ . "Goldman"^^ . "Jill Goldman"^^ . . "Kin"^^ . "Mok"^^ . "Kin Mok"^^ . . "Dimitrios"^^ . "Kapogiannis"^^ . "Dimitrios Kapogiannis"^^ . . "Jorge H."^^ . "Moreno"^^ . "Jorge H. Moreno"^^ . . "Bernardino"^^ . "Ghetti"^^ . "Bernardino Ghetti"^^ . . "Jordan"^^ . "Grafman"^^ . "Jordan Grafman"^^ . . "Edward D."^^ . "Huey"^^ . "Edward D. Huey"^^ . . "Eric M."^^ . "Wassermann"^^ . "Eric M. Wassermann"^^ . . "Jill R."^^ . "Murrell"^^ . "Jill R. Murrell"^^ . . "Richard"^^ . "Mayeux"^^ . "Richard Mayeux"^^ . . . . . . "Screening for C9ORF72 repeat expansion in FTLD (PDF)"^^ . . . . . "nihms-419635.pdf"^^ . . . "Screening for C9ORF72 repeat expansion in FTLD (Other)"^^ . . . . . . "lightbox.jpg"^^ . . . "Screening for C9ORF72 repeat expansion in FTLD (Other)"^^ . . . . . . "preview.jpg"^^ . . . "Screening for C9ORF72 repeat expansion in FTLD (Other)"^^ . . . . . . "medium.jpg"^^ . . . "Screening for C9ORF72 repeat expansion in FTLD (Other)"^^ . . . . . . "small.jpg"^^ . . "HTML Summary of #2910 \n\nScreening for C9ORF72 repeat expansion in FTLD\n\n" . "text/html" . . . "RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry"@en . .