Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in ALS

Hexanucleotide repeat expansions in C9ORF72 are a common cause of familial and apparently sporadic amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The mechanism by which expansions cause neurodegeneration is unknown, but current evidence supports both loss-of-function and ga...

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Autores principales: Harms, Matthew B., Cady, Janet, Zaidman, Craig, Cooper, Paul, Bali, Taha, Allred, Peggy, Cruchaga, Carlos, Baughn, Michael, Pestronk, Alan, Goate, Alison, Ravits, John, Baloh, Robert H.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3679344/
https://ncbi.nlm.nih.gov/pubmed/23597494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.03.006
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