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Article

The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD

13 Feb 2017

Abstract excerpt

Expansion of a hexanucleotide (GGGGCC) repeat in the gene C9ORF72 is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Three non-exclusive mechanisms have been proposed to contribute to the pathology initiated by this genetic insult. First, it was suggested that decreased expression of the C9orf72 protein product may contribute to disease. Second, the recognition that...

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Amyotrophic Lateral Sclerosis Research
Genetic Neurodegenerative Diseases
Neurogenetic and Muscular Disorders Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28243191
DOI: 10.3389/fnmol.2017.00035

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