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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Article
Sarrera elektronikoa: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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