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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha: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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