Dynamic mutations are on the rise and many recent News & Views and editorials have
addressed the growing list of diseases associated with dynamic mutations due to repeat …

Trinucleotide repeat expansions have been shown to cause a number of neurodegenerative
diseases1–6. A hallmark of most of these diseases is the presence of anticipation, a …

The expansion in the identification of repeat expansion neurodegenerative diseases is
leading to an increase in our understanding of their molecular mechanisms. Neuronal cell …

Trinucleotide repeat expansions are now a well‐established mutational mechanism in
human genetic disease. An unstable CAG repeat is known to be responsible for three …

The expansion of trinucleotide repeat sequences has now been shown to be the underlying
cause of at least ten human disorders. Unifying features among these diseases include the …

There are a variety of different types of mutations in the human genome and many diverse
mechanisms for their generation. Single-base-pair substitutions account for the majority of …

Triplet repeats are the sites of mutation in three human heritable disorders, spinal and
bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These …

Genetic recombination is a robust mechanism for expanding CTG· CAG triplet repeats
involved in the etiology of hereditary neurological diseases (Jakupciak, JP, and Wells, RD …

A mounting number of inherited human disorders, including Huntington disease, myotonic
dystrophy, fragile X syndrome, Friedreich ataxia and several spinocerebellar ataxias, have …

Expansions of polyglutamine repeats are known to cause a variety of human
neurodegenerative diseases. More recently, expansions of alanine tracts, particularly in …