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 FTLD patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-FTD and 2 FTD-ALS) out of 53 patients and one ne...

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Bibliographic Details
Main Authors:	Ferrari, Raffaele, Mok, Kin, Moreno, Jorge H., Cosentino, Stephanie, Goldman, Jill, Pietrini, Pietro, Mayeux, Richard, Tierney, Michael C., Kapogiannis, Dimitrios, Jicha, Gregory A., Murrell, Jill R, Ghetti, Bernardino, Wassermann, Eric M, Grafman, Jordan, Hardy, John, Huey, Edward D., Momeni, Parastoo
Format:	Artigo
Language:	Inglês
Published:	2012
Subjects:	Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3743244/ https://ncbi.nlm.nih.gov/pubmed/22459598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2012.02.017
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Screening for C9ORF72 repeat expansion in FTLD

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