The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Protein aggregation is a hallmark of neurodegenerative diseases. However, the mechanism
that induces pathogenic aggregation is not well understood. Recently, it has emerged that …

C9ORF72 hexanucleotide repeat expansion is the most common genetic cause of both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic …

Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …

CGG repeat expansions in the FMR1 5'UTR cause the neurodegenerative disease Fragile X-
associated tremor/ataxia syndrome (FXTAS). These repeats form stable RNA secondary …

The most common inherited cause of two genetically and clinico-pathologically overlapping
neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal …

Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a hexanucleotide expansion in the chromosome 9 open reading frame 72 …

Toxic dipeptide-repeat (DPR) proteins are produced from expanded G4C2 repeats in the
C9ORF72 gene, the most common genetic cause of amyotrophic lateral sclerosis (ALS) and …

Abstract GGGGCC (G 4 C 2) hexanucleotide repeat expansion in the C9ORF72 gene is the
most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral …