Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72

BACKGROUND: The hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the pathogenic mechanism underlying many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the...

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Главные авторы: Savica, Rodolfo, Adeli, Anahita, Vemuri, Prashanthi, Knopman, David S., DeJesus-Hernandez, Mariely, Rademakers, Rosa, Fields, Julie A., Whitwell, Jennifer, Jack, Clifford R., Lowe, Val, Petersen, Ronald C., Boeve, Bradley F.
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3625860/
https://ncbi.nlm.nih.gov/pubmed/22637471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2012.772
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